Professional Documents
Culture Documents
NEONATOLOGY
Medical care should be humane, and painless;
ideally promotive, preferably preventive, desirably
curative, at times rehabilitative and always
reassuring and consoling
ML Kulkarni
An Atlas of
NEONATOLOGY
ML Kulkarni
MD (Ped), FIAP, FAMS, FIMSA, FRCPCH (UK), FCPCC (LON),
FICP (USA), PhD (Gen. Anthr.), MNAS (NY)
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An Atlas of Neonatology
2005, ML Kulkarni
All rights reserved. No part of this publication should be reproduced, stored in a retrieval system, or transmitted
in any form or by any means: electronic, mechanical, photocopying, recording, or otherwise, without the prior
written permission of the author and the publisher.
This book has been published in good faith that the material provided by author is original. Every effort is made
to ensure accuracy of material, but the publisher, printer and author will not be held responsible for any
inadvertent error(s). In case of any dispute, all legal matters to be settled under Delhi jurisdiction only.
First Edition: 2005
ISBN
81-8061-518-9
Dedicated to
My parents
Late Sri Laxmanrao B Kulkarni
and
Late Smt Sharadabai L Kulkarni
who are with God
Preface
The value of a picture cannot be underestimated. The popular sayings like a picture is worth thousand words
and seeing is believing are the testimony for it. Unlike in textual material, the pictures in an atlas hardly need
updating. Older the picture, more value it has like an old wine and an old friendship. Further, very old pictures
may even attain antique values and deserve to be only preserved and protected.
At one end, a collection of only pictures makes an attractive album. Whereas, at the other extreme, a long
text results in monotonous monogram. In an atlas, a blend of believing beauty of a picture and authentic
account of the text give it a unique place in educational tools. It is the general tendency of an average student
to skip reading of pictures and tables, when reading a textbook not realizing their importance. In an atlas, the
very name invites or may even compel the student to read the picture. This we feel is a special advantage of
possessing and reading an atlas, especially in a subject like neonatology, where few atlases are available.
Neonatology is a speciality with a large visual content in it. Some topics like congenital malformation,
dysmorphic syndromes, birth injuries, normal variants in newborn, physical characters of preterm and small for
date babies are largely visual. Whereas, topics like neonatal sepsis, congenital heart diseases etc have less visual
content. To overcome this problem we have incorporated few line diagrams, flow charts and tables to emphasize
the content. More than one photograph of the same condition (of course from different patients) is given in
chapters on congenital malformations and genetic syndromes to help the reader to develop better mental picture.
ML Kulkarni
Acknowledgements
Several postgraduates who have intellectually-interacted with me over the last 29 years need special
acknowledgement. Shri JP Vij, Chairman and Managing Director of Jaypee Brothers Medical Publishers (P) Ltd,
New Delhi who mooted the idea of producing the Atlas of Neonatology and his team for the excellent work.
I also thank the following postgraduate students who helped in the preparation of this book.
(Drs) Sarfraz Navaz, Anuj Sehegal, Prem Alva, Abdul Manaf, AS Savadi, Chidanada, Apporva, Mayi Gowda,
Ram Gopal Shastri, Shankar, Zaheerudin Mohamed, Anant Gupta, Thippeswamy, Nagendra, Naveen, Jaggannath,
Girish Hadli, Anoop Damodar, Vani, Praveen Prabhu and Sredhar.
Contents
1. Nomenclature ....................................................................................................................... 1
2. Labor Room Procedures ....................................................................................................... 4
3. NALS .................................................................................................................................... 8
4. Routine Care of the Newborn ............................................................................................. 16
5. Neonatal Immunization ....................................................................................................... 22
6. Traditional Practices .......................................................................................................... 27
7. Physical Examination of the Newborn ................................................................................ 31
8. Normal Variants ................................................................................................................. 43
9. Stool Cycle in Newborn ..................................................................................................... 52
10. Neonatal Reflexes .............................................................................................................. 54
11. Gestational Age Assessment .............................................................................................. 59
12. Anthropometry .................................................................................................................... 67
13. Classification of Newborns and Problems of Low Birth Weight ........................................ 80
14. Clinical Assessment of Nutrition Status (CANS) at Birth .................................................. 84
15. Feeding of Newborns.......................................................................................................... 89
16. Neonatal Jaundice ............................................................................................................ 102
17. Birth Injuries .................................................................................................................... 114
18. Neonatal Sepsis ............................................................................................................... 125
19. Common Neonatal Infections ........................................................................................... 128
20. Intrauterine Infections ...................................................................................................... 135
21. Perinatal HIV Infection ..................................................................................................... 140
22. Hypoxic Ischemic Encephalopathy ................................................................................... 148
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An Atlas of Neonatology
Nomenclature
An Atlas of Neonatology
Fetal
Maternal age
<18> 35 yrs
High parity
SGA
Asphyxia
Maternal anemia
Twins
Toxemia
Congenital malformations
Poor spacing
Hypothermia
Perinatal Period
From 28 weeks of gestation to first 7 completed days
(168 hours) of life.
Neonatal Period
First 28 days of life. Early neonatal period refers to the
first 7 days (168 hours) of life, while late neonatal
period signifies the period from more than 7 days to
28 days of life.
Perinatal Mortality Rate (PMR)
Perinatal mortality rate (PMR) is defined as late fetal plus
early neonatal (first week) deaths of babies weighing
more than 1000 g (or 28th weeks of gestation or more)
at birth per 1000 total births weighing over 1000 g.
Important causes are listed in Table 1.1.
Stillbirths (>1000 g) + early
neonatal deaths (>1000 g)
Perinatal = 1000
mortality rate Total births weighing >1000 g
Table 1.1: Causes of perinatal mortality and their
percentage
Causes of death
Asphyxia
Prematurity, low birth weight
Congenital malformations
Septicemia
Respiratory distress syndrome
Anemia
Birth trauma
Multiple factors
Undetermined
Percentage
41.6
17.9
6.7
2.4
2.2
1.5
1.2
11.0
15.5
Infants
Prediabetes or
diabetes
Present perinatal mortality is 44.3 per 1000 births (1993)
(Shanti Ghosh) and is 3-4 times more in LBW babies.
Immaturity
Birth asphyxia
Infections
Congenital malformations
Others like birth trauma
Nomenclature
Causes
1.
2.
3.
4.
ARI.
Diarrhea.
Under nutrition.
Infections.
An Atlas of Neonatology
STEPS
1. Head is the first part to be delivered in vertex
presentation. Immediately after head is born,
finger should be slipped in to detect presence of
cord round the neck. If a loop of cord is found
it should be either slipped over the head or cut
between clamps (Figs 2.1a to c).
Fig. 2.1b: Cord round the neck. Note three loops of cord
around the neck. Twisted cord is also seen
Fig. 2.1c: Loop of cord around neck, slipped over the head
Fig. 2.3: Cutting the cord. Note cord being cut in between
the clamps
An Atlas of Neonatology
INTERPRETATION
1. Apgar scores are used to assess the severity of birth
asphyxia at birth. It helps in planning management
after the resuscitation is accomplished.
Heart rate
Respiratory effort
Muscle tone
Respons to catheter in
nostril
Color
Absent
Absent
Limp
No response
Below 100
Slow, irregular
Some flexion of extremities
Grimace
Over 100
Good crying
Active motion
Cough or sneeze
Blue pale
Completely pink
A total score of 10 indicates that an infant is in the best possible condition. An infant with a score of 0 to 3 requires immediate
resuscitation.
An Atlas of Neonatology
NALS
NALS
factors are well known to be associated with it.
The attending pediatrician should carefully review
antepartum and intrapartum history before hand.
Preparation for high-risk delivery is often the key to a
successful outcome. Co-operation between the obstetric
staff and pediatric staff is important.
The problem can be anticipated before birth in the
following situations.
Maternal Factors
1. Maternal age <16 years or >30 years.
2. Maternal illnesses like preeclamptic toxemia (PET),
rheumatic heart disease (RHD), diabetes mellitus,
renal diseases, maternal hypotension, antepartum
hemorrhage (APH), severe anemia and infections.
3. Sedatives, analgesics or general anesthesia given to
mother in the preceding few hours.
4. Maternal drug/alcohol abuse.
5. Placental insufficiencytoxemia, postmaturity.
6. Obstetric disorders like Rh disease, antepartum
hemorrhage (APH), polyhydramnios, oligohydramnios and PET.
7. Abnormal presentations, cord prolapse, prolonged
rupture of membranes.
8. Precipitate labor.
9. Obstetric procedures like lower-segment cesarean
section (LSCS), forceps delivery.
Fetal Factors
1.
2.
3.
4.
Preterm birth.
LBW babies.
Multiple pregnancy.
Ultrasound evidence of fetal anomalies.
Table 3.1: Some high-risk situations for which resuscitation may be anticipated
High-risk situation
Primary intervention
Preterm delivery
Thick meconium
Maternal hemorrhage
Use of narcotics in labor
Hydrops fetalis
Polyhydramnios,gastrointestinal obstruction
Oligohydramnios, pulmonary hypoplasia
Maternal infection
Maternal diabetes
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An Atlas of Neonatology
Table 3.2: Equipments for neonatal resuscitation
Suction equipment:
Bulb syringe
Mechanical suction
Suction catheters (5 or 6), 8, 10 Fr.
8 Fr feeding tube and 20 cc syringe.
Meconium aspirator
Bag and Mask Equipment (Fig. 3.2a)
Laryngoscope with straight blades (Fig. 3.2b)
No. 0 and No. 1
Extra bulbs and batteries for layngoscope
Endotracheal tubessizes 2.5, 3, 3.5, 4 mm (Fig 3.2c)
Stylet
Scissors
Gloves
Medications
Epinephrine 1:10,000
Naloxone
Volume expander:
Normal saline,
Ringer lactate,
5% Albumin solution
Sodium bicarbonate
10% dextrose
Radiant warmer
Stethoscope
Syringes
Adhesive tapes
Umbilical catheters 3, 5 Fr
Needles 25, 21, 18 G
NALS
11
OXYGEN
After the 5th step, evaluate the infants respiration and
heart rate if ventilation is adequate and the heart rate
is above 100 beats/min, but there is central cyanosis,
give 100 percent free flow oxygen by tube or mask.
12
An Atlas of Neonatology
seconds) is less than 60 beats/min or between 60 and
80 beats/min and not increasing. Since bradycardia is
usually a result of hypoxemia, chest compressions
should always be performed in conjunction with PPV
at a ratio of 3:1 with 120 compressions and 40 breaths/
min. Two techniques are used to give chest compressions: two fingers technique and two thumb technique
as shown in the figure.
Choice of ET Tube
Based on the weight of the infant the ET tube is selected
as follows.
Fig. 3.8a: Giving chest compression
Weight
Tube size
<1000 gm
2.5
1000-2000 gm
3.0
2000-3000 gm
3.5
>3000 gm
4.0
NALS
13
Indication
Dosage
Route
Epinephrine (1:10,000)
Volume expander
(Normal saline or Ringer lactate)
Sodium bicarbonate
10% dextrose
Naloxone
IV or ET
IV
Documented acidosis
Documented hypoglycemia
Maternal narcotic analgesia
2 mEq/kg
2 ml/kg
0.1 mg/Kg
IV
IV
IV, ET, IM, SC
Medications
Administration of medications is rarely needed in
neonatal resuscitation. Indications for use of medication
is heart rate remaining less than 60 beats/min, despite
adequate ventilation with 100 percent oxygen and chest
compression.
The list of medications, dosage, route and indications
are given in Table 3.3.
RESUSCITATION IN SPECIAL
SITUATIONS
Meconium Stained Amniotic Fluid (MSAF)
It is a commonly encountered problem in both term
and preterm babies, which if not handled carefully may
lead to severe asphyxia aspiration pneumonia,
pneumothorax and pulmonary hypertension. The
obstetrician attending the labor should suction oral
cavity and throat once the babys head is delivered to
prevent aspiration into the lungs with the onset of first
cry. Meconium stained amniotic fluid is seen in about
10 to 15 percent of all deliveries. Infants born with
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An Atlas of Neonatology
Hydranencephaly
Anencephaly
Holoprosencephaly
13 Trisomy syndrome
18 Trisomy syndrome
Triploidy
Renal agenesis
Sirenomelia
Short limb dwarfism syndromes
Achondrogenesis types 1a and 1b
Type II achondrogenesis hypochondrogenesis
Fibrochondrogenesis
Atelosteogenesis
Short-rib polydactyly syndrome, Saldino Noonan type
Thanatophoric dysplasia
Osteogenesis imperfecta type II
Miscellaneous Syndromes
Lethal multiple pterygium syndrome
Neu-laxova syndrome
Meckel-Gruber syndrome
Goldsmith JP, Ginsberg HG, McGettiigan MC. Ethical decisions
in the delivery room. Clin Perinatol 1996;23:529-550.
NALS
Central venous catheterizationfluid and electrolyte
monitoring.
If there is massive pleural effusion leading to
respiratory distress, pleural tapping is done.
15
16
An Atlas of Neonatology
Routine Care
of the Newborn
17
18
An Atlas of Neonatology
Refusal of feeds.
Central cyanosis (Fig. 4.3d).
Distention of abdomen (Fig. 4.3a).
Convulsions.
Vomiting/diarrhea.
Bleeding (Fig. 4.3e).
Hypotonia.
Sudden fall or rise of temperature.
19
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An Atlas of Neonatology
Table 4.1: Newborn screening program
Intervention
Remarks
Congenital hypothyroidism
1:3600-5000 multiple
causes
Thyroxine supplementation
Excellent response to
replacement therapy soft
signs prolonged jaundice,
constipation, umbilical
hernia
MSUD 1:170,000 to
1:400,000
21
BIBLIOGRAPHY
1. Brown ER. Metabolic screening. Clin Perinatl 1998;25:
371-388.
22
An Atlas of Neonatology
Neonatal Immunization
Fig. 5.1a
BCG Vaccine
It is recommended to give BCG vaccine at birth for all
institutional deliveries. It is given intradermally over left
upper arm over deltoid insertion using tuberculin
syringe. If BCG is given subcutaneously instead of
intradermally, the complications are more likely to occur
Neonatal Immunization
23
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An Atlas of Neonatology
Complications of BCG
The local complications that may follow BCG vaccination are ulcer, abscess, regional suppurative lymphadenitis and Kochs phenomenon.
BCG Adenitis (Fig. 5.2g)
The incidence of this complication is estimated to be
1 to 3 percent; usually, only axillary nodes are involved.
This complication occurs within 4 to 6 weeks of
vaccination Initially, lymph nodes are firm in consistency
but may become soft and form abscess later. The
infection may spread to supraclavicular, and cervical
nodes. This condition needs to be treated and the drug
used is isoniazid for 3 months.
Neonatal Immunization
25
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An Atlas of Neonatology
Vaccine Carriers
These are used to carry small quantities of vaccines (1620 vials).
These carriers are made of special material which
do not allow heat to pass through it. Four fully frozen
ice packs are used for lining the sides and lid should
be closed tightly. Deep fridge (Fig. 5.5c; left) is used
to prepare ice packs and ice-lined refrigerator (Fig. 5.5c;
right) is used for vaccine storage. At vaccination center,
vaccines are kept in slots of ice packs (Fig. 5.5d).
Traditional Practices
27
Traditional Practices
Harmful Practices
1. Food fads and taboos to pregnant women.
2. Prelacteal feeds for newborns (Figs 6.4 and 6.5a
and b)
a. Discarding colostrum.
b. Rooming in a mother and baby in a dark room
with dirty clothes.
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An Atlas of Neonatology
Traditional Practices
29
Indifferent Practices
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An Atlas of Neonatology
Fig. 6.11b: Wrist bands and ankle bands to ward off evil eyes
31
Physical Examination
of the Newborn
Manifestations
Choanal atresia
Diaphragmatic hernia
Tracheoesophageal fistula
Intestinal obstruction:
Volvolus, duodenal atresia,
Ileal atresia
Gastroschisis, omphalocele
From Stall BJ, Keligman RM in Behrman RE, Kligman RM, Jenson HB Eds Nelson Textobook of Pediatrics 17th edn. Saunders
Philadelphia.
32
An Atlas of Neonatology
WASHING HANDS
Handwashing is the simplest and most cost-effective
way to prevent skin colonization and interrupt
nosocomial transmission. Following guidelines are
recommended.
Use a mild, alkaline to neutral pH, nonantimicrobial
skin cleanser for soiled hands, although routine use
of plain soap may result in dispersal of bacterial
colonies and increase the risk for transmission.
Handwashing after each patient contact is
recommended, even when wearing examination
gloves, because of frequent hand contamination by
undetected leaks in the gloves.
Chlorhexidine and a waterless, alcohol-based
product are agents of choice for hand decontamination of bacteria. In situations in which candida
infection is problematic, 10% povidone-iodine may
be preferable.
Surgical scrubbing may increase skin shedding of
bacteria and is not recommended.
General Examination
Before disturbing a sleeping or a quiet infant, spend
some time to assess his general appearance. Assess his
state of arousal, cry, activity and color. This simple
exercise gives invaluable amount of information about
infants well being (Fig. 7.1).
Vital Signs (Figs 7.2a to d)
Temperature, heart rate, respiratory rate, pulse, blood
pressure and capillary filling time [CFT] will confirm the
general impression had from preliminary inspection.
Temperature can be measured at several sites; oral
cavity rectum, axilla, tympanic membrane or skin.
Rectal temperatures are 1F higher than oral where as
axillary temperatures are 1F lower. Temperature should
be checked at least twice a day. Applying pressure and
noting the time taken for blanching to disappear, check
CFT. Normally it should be less than 3 sec. Heart rate
is counted by auscultation. Normal heart rate is between
110 and 160. Pulses are checked for their presence and
volume. Blood pressure is checked in special situations
only.
Anthropometry: Routinely weight, length, head
circumference, chest circumference and mid-arm
circumference are measured. Special measurements are
taken in the presence of any dysmorphic features. The
details are described in chapter 33.
Assessment of gestational age: Using a combination
of neuromuscular and physical criteria gestational age
can be estimated. This is usually done by scoring system
described by Dubowitz with later modification by
Ballard. Further details are described in chapter 11.
Head to Foot Examination
Posture (Figs 7.3a and b): Posture reflects general
neurological status and degree of maturity. Normal
posture of a healthy neonate is that of universal flexion
Fig. 7.3b: Posture in prone position. Note buttocks being lifted and weight
borne by the knees compare with that of a preterm baby
33
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An Atlas of Neonatology
Normal variants
Birth marks
Rashes
Abrasions, ecchymosis
Tache cerebrale may indicate autonomic disturbance
of cutaneous vasculature (Fig. 7.4b).
General
Caput
Fracture sites
Superior vena cava syndrome
Turner syndrome
Vit E deficiency
Congenital lymphedema
Physiologic
Anemia
Rh isoimmunization
Cardiac failure
Intrauterine infection
Congenital nephrosis
Over-hydration
SIADH
Renal causes
Respiratory distress
syndrome
Superficial injuries
Scalp, defects, hair, whorl pattern
Size
Shape
Localized swelling
Skull fractures
Sutures
Fontanellae
Craniotabes
Transillumination
35
Craniosynostosis
Microcephaly
Third fontanel:
Down syndrome
Hypothyroidism
(From Avery)
Sutures should be examined for the gap between
them. Separation upto 1cm may be considered as
normal. Premature closure also termed as craniosynostosis can impart various abnormal shapes to the skull
depending on the suture affected. It should be
differentiated from overriding, a normal finding in first
48 hours. This is done by noting ridging at suture lines
in craniosynostosis and step up feel in overriding.
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An Atlas of Neonatology
Edema of lids
Slant abnormality
Buphthalmos
Proptosis
Subconjunctival hemorrhage
Conjunctivitis
Cataracts
Corneal opacities
Colobomas
White pupil
Blue sclera
Ophthalmoscopic Examination
Ophthalmoscopic examination provides useful information. Inspection of retina requires a dilated pupil. By
direct ophthalmoscopy, two important abnormalities
should be looked for: pre-retinal hemorrhages and
chorioretinitis. The former is associated with intracranial
hemorrhage and the latter suggests intracranial
infection.
The infant is placed supine and to examine the right
eye head is turned with left side of the face resting on
the surface the examiner without touching the baby
should bend over and use the right eye to look at the
childs right eye, similarly the process is repeated with
the left eye.
Ears: General shape, size, position and setting of the
ears should be noted. Presence of accessory ears, tags,
37
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An Atlas of Neonatology
For palpating kidney, unimanual method is advocated. Presence of any abnormally palpable mass
should prompt further investigation. List of common
congenital abdomen masses is given in Table 7.6 (Figs
7.9a and b).
Genitalia: Look for the following features in males
Length of penis
Position of urethral opening
Urinary stream
Rugosity of scrotum
Feel for both testes
Benign conditions causing parental anxiety are
phimosis, apparently small penis, hydrocele and
retractile testes.
39
40
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41
42
An Atlas of Neonatology
(b)
(a)
(c)
Fig. 7.11i: (a) Opisthotonus, (b) Decerebrate, (c) Decorticate
Normal Variants
43
Normal Variants
Mongolian spots
Erythema toxicum
Epstein pearls
Milia
Hemangiomas of skin
Peeling of skin
Harlequin color changes
Cutis marmorata
Sucking blisters
Sebaceous gland hyperplasia
Transient pustular melanosis
Miliaria rubra/crystallina
Subconjunctival hemorrhage
Breast engorgement
Vaginal bleed
Vaginal mucous discharge
Hymenal tags
Non-retractile prepuce
Hydrocele
Neonatal teeth
Phimosis
Accessory nipple
Prominent xiphisternum
Frontal baldness
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An Atlas of Neonatology
No systemic effect
Lesions disappear spontaneously within 3 days.
Differential diagnosis:
Milia rubra
Transient pustular melanosis
Herpes simplex
Bacterial folliculitis.
Normal Variants
45
46
An Atlas of Neonatology
Normal Variants
47
Table 8.2: Differences between erythema toxicum and transient pustular melanosis
Incidence
Age of onset
Type of lesion
Contents on microscopy
Erythema toxicum
Very common
After 2 days
Vesico-papule or pustule
with surrounding erythema
Eosinophils predominate
Relatively rare
Present at birth
Vesico-pustule with no surrounding
erythema
Neutrophils predominate
48
An Atlas of Neonatology
the extremities during first week of life. In extreme cases,
a congenital ichthyosis has to be considered. But
absence of ectropion, eclobian and gloved appearance
helps in differentiation. Another condition that should
be differentiated is X-linked recessive hypohidrotic
dysplasia.
Normal Variants
49
50
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Normal Variants
51
BIBLIOGRAPHY
52
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10
Neonatal Reflexes
(a)
(b)
Figs 10.2a and b: Moros reflex
Neonatal Reflexes
Normal Response
Method of Eliciting
55
Abnormal Response
Incomplete: Prematurity (only abduction and
extension)
Less prominent: Asphyxia, meningitis, hypothermia,
kernicterus.
Asymmetrical: Erbs palsy, fracture of clavicle or
humerus, hemiplegia.
Exaggerated: Hypoxic ischemic encephalopathy
Abnormal Response
Method
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An Atlas of Neonatology
Normal Response
Method
Abnormal Response
Normal Response
Neonatal Reflexes
57
Normal Response
Is automatic walking. It is present at birth in full term
babies and disappears by 6 weeks.
Tonic Neck Reflex (Fig. 10.9)
This reflex differs from others in being less prominent
in the newborn period but becomes marked at a few
weeks of age
Abnormal
Absent in depressed and anencephalic babies.
Stepping (Fig. 10.8)
Fig. 10.9: Asymmetric tonic neck reflex
Method
Elicited by holding the baby upright with forward
inclination and bringing the feet in contact with the
surface.
Method
Elicited by rotating the head slowly from midline
position towards one side.
Normal Response
Consists of extension of upper limb on the side to which
the face is rotated and flexion of the limb on the other
side. Similar but variable of response is seen in lower
limbs.
Abnormal
The TNR is an important indicator of neurological
abnormality if the responses are excessive and
obligatory. When unilateral, it indicates brain damage
in the hemisphere opposite to the extended limbs.
Gallants Reflex (Fig. 10.10)
Method
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An Atlas of Neonatology
Normal Response
Abnormal Response
11
59
PHYSICAL PARAMETERS
1. Skin (Figs 11.1a and b)
Look for translucency over the abdominal wall and score
1
Sticky
Friable
Transparent
Gelatinous
Red
Translucent
Smooth
Pink
Visible veins
Superficial
peeling
and/or rash
Few veins
Cracking
Pale areas
Rare veins
Parchment
Deep crack
No veins
Lethargy
Cracked
Wrinkled
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An Atlas of Neonatology
None
Sparse
Abundant
Thinning
Bald areas
Mostly bald
61
Heal-toe
40-50 mm: 1
<40 mm: 2
>50 mm
No crease
Anterior transverse
crease only
Creases anterior
2/3
Creases over
entire sole
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An Atlas of Neonatology
Imperceptible
Barely perceptible
Flat areola
No bud
Stippled areola
1-2 mm bud
Raised areola
3-4 mm bud
Full areola
5-10 mm bud
Lids fused
loosely (1)
Tightly (2)
Lids open,
pinna flat, stays
folded
Slightly curved
pinna, soft,
slow recoil
Well-curved
pinna, soft
but ready recoil
Thick
cartilage, ear
stiff
63
Scrotum flat,
smooth
Scrotum empty,
faint rugae
Testes in upper
canal, rare rugae
Testes descending,
few rugae
Clitoris prominent,
labia flat
Prominent clitoris,
small labia minora
Prominent clitoris,
enlarging minora
Majora large,
minora small
Majora cover
clitoris and
minora
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NEUROLOGICAL PARAMETERS
Posture (Figs 11.7a and b)
Infant should be quiet and lie supine.
Infant supine
Take both hands
Flex forearms
Extend parallel to the body and release
Observe recoil at elbow.
Infant supine
Approximate knee and thigh to abdomen
Extend leg by gentle pressure with index finger behind ankle
Estimate the angle.
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Anthropometry
12
67
Anthropometry
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Anthropometry
or homes, in clinics and hospitals, small weighing scale
with a dial gives fairly good reading. Such a scale can
be hung from a hook (Figs 12.1g and h) Use a sling
made from cloth or nylon to hold the child. Fix the
scale at eye level for correct reading.
The beam balance scale is used in permanent clinics.
It is accurate, must be kept clean and correctly
adjusted. The other precautions to be taken while
weighing children include:
i. Naked baby should be kept on a clean towel or
paper on the scale pan.
ii. The sick or premature infant can sometimes be
weighed in an incubator using a spring balance.
iii. In home delivery, weight should be taken by
placing the baby in a sling using a simple spring
balance.
Other scales used in the community (color-coded
weighing scale): It is a simple instrument to find out birth
weight. It is a cylindrical instrument with a hook at lower
end and a bar to hold the scale at the upper end. The
weights are marked up to 5 kg with 100 gm divisions.
A newborn weighing less than 2.5 kg is low birth weight
(LBW) and hence the scale is colored yellow and red
to indicate LBW.
Before using the scale, ensure that the pointer is at
zero if possible check against known weights. Fold the
corners of a clean piece of cloth into a hammock.
Place the baby in the hammock, keeping your left
hand underneath if baby slips. Hold the weighing scale
by the right hand with the help of the bar. Check the
weight by the color now visible on the color-coded scale.
If the weight falls in red or yellow color zone, the baby
is of LBW and should be at your special attention.
Always keep the scale at eye level while measuring the
weight. Never hang weights heavier than 5kg.
An important point to be remembered is that birth
weight falls in the first five days (not >10% of birth
weight) and is regained on the 10th day. Subsequently,
in a term baby daily weight gain is around 25 to
30 g.
Other uses of recording weight in newborn are:
i. Monitoring of weight is a sensitive parameter for
assessment of nutrition status and its progress.
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Anthropometry
Mid-arm Circumference (MAC) (Fig. 12.5)
Overgrowth
Cerebral gigantism (Sotos syndrome)
Marshall syndrome
71
Skeletal
Pyknodysostosis
Achondroplasis
Facial genital defects
G syndrome (Opitz-Frias)
Smith-Lemli-Opitz syndrome
Others
X-linked hydrocephalus
Oto-palato-digital syndrome (Taybi)
Marfan syndrome
Short Biparietal Diameter
Sagittal craniosynostosis
Wide Biparietal Diameter
SPECIAL MORPHOMETRY
Head
The measurements of the neonatal head are useful to
diagnose syndromes, which include short anteroposterior diameter, long anteroposterior diameter, short
biparietal diameter, wide biparietal diameter, microcephaly, and macrocephaly. Some of the common
syndromes associated are listed below.
Short Anteroposterior Diameter of the Head
Craniosynostosis
Acrocephalosyndactyly type I (Apert syndrome)
Acrocephalosyndactyly type III (Saethre-Chotzen
syndrome)
Cranio-oculo-dental syndrome
Craniofacial dysostosis (Crouzon syndrome)
Chromosomal syndromestrisomy 21
Syndromes9q+
Craniosynostosis
Craniofacial dysostosis (Crouzon syndrome)
Cranio-oculodental syndrome
Others
X-linked hydrocephalus
Thanatophoric dwarfism
HallermannStreiff syndrome
KBG syndrome
Eyes
Eye measurements in the newborn are useful in
determining hypotelorism, hypertelorism, dystopia
canthorum (increased distance between outer canthi),
and short and long palpebral fissures. Common
conditions associated with abnormalities of these
measurements are listed below.
Inner Canthal Distance (Fig. 12.6)
The distance between the medial canthi of the left and
right eye is measured. The measurement is taken by
placing the Vernier calipers edges one on either side of
the medial canthi. It should be taken when the child
is relaxed.
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Anthropometry
GMl gangliosidosis, type 1
Larsen
Meckel
Median cleft face
Mucopolysaccharidosis 1-H
Noonan
Multiple cartilaginous
exostosis
Oculodentosseous dysplasis
Potter
Robinow
Duplication
Duplication
Duplication
Duplication
Duplication
Duplication
Duplication
Duplication
Duplication
Duplication
14 q
Saethre-Chotzen
Duplication
15p
Stickler
Trisomy 9
Craniometaphyseal dysplasia XXY
2q3q
3q
4q
7q
10q
9p
11p
11q
of proximal
Eyes
Others
of proximal
9q +
10q +
18q+
14 q proximal partial
trisomy
Blepharophimosis
syndrome
Ankyloblepharon
Fetal alcohol
syndrome
Dubowitz syndrome
Williams syndrome
G syndrome (OpitzFrias)
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Small Ears
Skeletal
Auriculo-osteodysplasia
Klippel-Feil syndrome
Cleidocranial dysplasia (dysostosis)
Fanconi anemia
Craniofacial defects
Craniofacial dysostosis (Crouzon syndrome)
Chromosomal syndromes
Trisomy 21
Anthropometry
Trisomy 13
18pDrugs
Thalidomide syndrome
Infections
Rubella syndrome
Others
C syndrome
Renal, genital, and middle ear anomalies
Congenital heart disease (transposition of the great
vessels and hydroureter)
Long Ears
Chromosomal syndrome
XXY syndrome
Monosomy G
Trisomy 18
Trisomy 13
Leprechaunism
Potter sequence
Deafness, peripheral pulmonary stenoses and
brachytelephalangy
Marfan syndrome
Low-set ears
Craniofacial defects
Acrocephalosyndactyly type II (carpenter syndrome)
(occasional)
Cranio-oculo-dental syndrome
Facial defects
Mandibulofacial dysostosis (Treacher Collins
syndrome)
Oculo-auriculo-vertebral dysplasia (Goldenhar
syndrome)
Frontonasal dysplasia (occasional)
Drugs
Fetal hydantoin syndrome
Fetal aminopterin syndrome
Chromosomal syndromes
Trisomy 8+
4p 4p+
5p 7q+
8+
9+
10q+
trisomy 13
13q+
14q+
15q+
18+
18p 18q 21q 22+
22q Penta X
XXXXY
Others
Osteodysplasty (Melnick-needles syndrome)
Others
Potter sequence
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Camptomelic dwarfism
Iris coloboma and anal atresia syndrome
(occasional)
Cutis laxa-growth deficiency (occasional)
Leprechaunism
Philtrum (Fig. 12.11)
This is the nasolabial groove above the upper lip. The
upper limit is the groove where it joins the tip of the
nose, and the lower limit, were it joins the lip.
Anthropometry
77
Prader-Willi
Robinow
Smith-Lemli-Opitz
Achondroplasia
Asphyxiating thoracic
dysplasia
Fetal hydantoin
Ellis-Van Creveld
Fetal warfarin
Cranioectodermal dysplasia
Focal dermal hypoplasia Diastrophic dysplasia
GMI gangliosidosis type 1
Hypoglosis-hypodactylia Pseudoachondroplasia
Mucolipidosis II
Thanatophoric dysplasia
Mucopolysaccharidosis,
1H, I-S, II, III
Duplication 2q
Orofaciodigial 1
Duplication 8 mosaicism
Otopalatodigital
Trisomy 21
Pfieffer
Internipple Distance (Fig. 12.15)
The distance between the two nipples is taken using the
medial side of the nipples as end points.
Widely spaced nipples are noted in Turners,
Noonans, 4 p+, 18 p -, 18 q-, fetal hydantoin, Trisomy
18 and Fraser syndromes, whereas narrowly spaced
nipples are seen in asphyxiating thoracic dystrophy.
Penile Length (Fig. 12.16)
Penile length in the newborn infant is determined from
the pubic ramus to the tip of the glans penis. The
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Anthropometry
crease to the top of the 2nd toe is measured. These
are added to get total foot length. Foot breadth is
sometimes measured to determine small or large feet
along with other measurements (Fig. 12.17c).
Foot length measurements are useful in evaluation
of skeletal dysplasia as well as nonskeletal syndromes.
A large foot is seen in cerebral gigantism, Cockayne
syndrome and leprechaunism. Long metatarsals,
resulting in long feet are seen in Marden-Walker
syndrome and Trevor disease. Short feet are seen in
Prader-Willi syndrome, 15q+ syndrome, various types
of brachydactyly and other syndromes with short
metatarsals like Cohens syndrome, Coffin-Siris
syndrome, Roberts syndrome, Weaver syndrome, etc.
BIBLIOGRAPHY
1. Feingold M, Bossert WH. Normal values for selected
physical parameters; An aid for syndrome delineation.
2.
3.
4.
5.
6.
7.
8.
9.
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13
Classification of
Newborns and Problems of
Low Birth Weight
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b. AGA
c. LGA
III. Postterm
a. SGA
b. AGA
c. LGA
Low Birth Weight Babies
The term low birth weight (LBW) baby refers to any
infant born with a weight of less than 2500 g irrespective
of his gestational age. Low birth weight could be due
to prematurity or growth retardation (IUGR), or a
combination of both. In developing countries growth
retardation accounts for a larger proportion of LBW.
One-third of the babies born in India are LBW and
among them one-third are preterm and two-third are
growth retarded. The problems of both types of LBW
babies are listed in the following table, separately,
though overlapping is common (Table 13.1).
Preterm
Modified and adapted from Behrman RE, Kleigman RM, Jenson HB eds. Nelson
Textbook of Pediatrics, 16th edn, 479, W.B. Saunders company Philadelphia.
Age of onset
Pattern of retardation
Head size
Ponderal index
Catch up growth
Genetic growth potential
Causes
Symmetric
Asymmetric
Early
Symmetric
Decreased
Normal
Less
Not attainable
Congenital viral infections
Chromosomal disorders
Single gene deletions and
other genetic disorder
Anomalad syndromes
Late
Asymmetric
Normal
Decreased
More
Attainable
Chronic fetal distress
Pre- eclampsia
Chronic hypertension
Diabetes mellitus
Poor maternal nutrition
Extrinsic
Constitutional
Chromosomal disorders
Congenital anomalies
Fetal infections
Teratogenic drugs/chemicals
Ionizing radiation
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14
Clinical Assessment of
Nutrition Status (CANS)
at Birth
CANSCORE
A scoring system has been devised by Metcoff to
clinically assess the nutritional status of a newborn infant.
The system has nine components with each component
rated from 4 (best) to 1 (worst). The sum of rating of
each of the nine CANS signs is the CANSCORE. This
can range from 9 (lowest) to 36 (highest). After studying
1382 singleton term babies, scores less than or equal
to 24 were taken as clinical evidence of malnutrition.
Significance: About half of SGA and 5% of AGA
babies have been shown to be malnourished and about
40% of fetally malnourished infants will develop
neurologic and intellectual handicaps later in life. Thus,
assessment of nutritional status is more important than
CANS
Nine signs for assessing nutritional status in
newborn term-infants: Each of the signs is rated from
4 (best) or 1 (worst). The CANSCORE is the sum of
nine CANS signs (Fig. 14.1).
Hair (Figs 14.1a and b): Large amount, smooth,
silky, easily groomed (4 points); thinner, some straight
staring hair (3 points); still thinner, more straight, with
depigmented hair that does not respond to brushing
(2 points); and straight staring hair with depigmented
stripe (flag sign).
Cheeks (Figs 14.2a and b): Progression from full
buccal pads and round face (4 points); to significantly
reduced buccal fat with narrow, flat face (1 point).
Neck and chin (Figs 14.3a and b): Double or triple
chin fat folds, neck not evident (4 points); to thin chin,
no fat folds, neck with loose, wrinkled skin very evident
(1 point).
Arms (Figs 14.4a and b): Full, round, cannot elicit
accordion folds or lift folds of skin from elbow or
triceps area (4 points); to striking accordion folding of
lower arm elicited when examiners thumb and fingers
of the left hand grasp the arm just below the elbow
of the baby and thumb and fingers of the examiners
right hand circling the wrist of the baby are moved
toward each other; skin is loose and easily grasped and
pulled away from the elbow (1 point).
85
Chest (Figs 14.8a and b): Full; round ribs not seen
(4 points), to progressive prominence of the ribs with
obvious loss of intercostal tissue (1 point).
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Fig. 14.3a: Double chin fat fold with not so evident chin
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BIBLIOGRAPHY
1. Metcoff J. Clinical assessment of nutritional status at birth.
Pediatr Clin North Am 1994;41:875.
Feeding of Newborns
15
Feeding of Newborns
BREASTFEEDING
Devine blessing
Oh! Lucky woman,
Let all the four oceans,
Through your breast milk,
Impart strength to your child
Just like God became immortal
By drinking Amrutha, let your
Child become healthy and
strong by drinking nectar (Amrutha) of your breast milk!
Kashyap Samhita
3000 years ago
Breastfeeding is encouraged in Indian culture from
time immemorial and people have accepted it as a
natural way of infant feeding. But, there are still a large
proportion of babies who are not exclusively breastfed
in the first six months and practices like discarding
colostrum, offering prelacteal feeds continue to cause
great morbidity and mortality. It is the responsibility of
all health care providers to make everyone understand
that human milk is for human infants.
BENEFITS OF BREASTFEEDING
Benefits to the Baby
Complete food
Species specific
Individual specific
Easily digested
Well absorbed
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TYPES OF BREASTFEEDING
This is depicted in the following Flow chart 15.1.
PHYSIOLOGY OF LACTATION
Lactation is the physiologic completion of the
reproductive cycle. Many hormones interplay in the
physiology of lactation, and are described as four
hormonal reflexes below.Three more neonatal reflexes
that are involved in breastfeeding are shown in the
picture (Fig. 15.2a)
Flow chart 15.1: Types of breastfeeding. (Scheme for breastfeeding definition from
Ruth A. Lawrence Breastfeeding 4th edition Mosby yearbook inc).
Feeding of Newborns
91
Release of oxytocin
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Factors promoting
Sound and sight of baby
Mothers confidence
Pleasant thought and sensation in mother
Factors inhibiting
Worry
Feeling of embarrassment
Lack of confidence
Stress
Two Intramammary Reflexes (Fig. 15.4)
Feeding of Newborns
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Feeding of Newborns
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Breast Abscess
It occurs as a complication of mastitis. Clinical features
are fever, pain and fluctuant mass in affected breast.
The milk remains clean unless the abscess ruptures into
the ductal system. Usually it drains to outside. Nursing
can be continued if the abscess opening is far from
areola. A true abscess always requires surgical drainage
along with antibiotics. Analgesics, rest, warm soaks and
frequent emptying are helpful. Baby should be carefully
watched for systemic illness when fed from the affected
breast.
Fig. 15.8a: Engorged breast with dilated veins and
inverted nipple
Feeding of Newborns
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Feeding of Newborns
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inserted through the nose. During insertion the head
is slightly raised and a wet tube is gently pushed into
the stomach. Correct position of tube is checked by
either auscultating bubbling of injected air over the
epigastrium or by aspirating the stomach contents. Milk
is taken in a 20 ml syringe attached to the end of tube
and allowed to trickle by gravity. Baby should be placed
in the right lateral position for 15-20 minutes to avoid
regurgitation.
Colostrum
It is the milk secreted in the first week after delivery.
It is yellow, thick and contains more antibodies and
WBCs. Owing to its antiinfective property, giving
colostrum to the baby has been often called first
immunization of the baby. It has many important
functions apart from nutrition. Which are summarized
in the following Table.
Antibody richProtects against infection and allergy
WBCsAntiinfective (Fig. 15.14)
PurgativeClears meconium helps to prevent jaundice
Growth factorsHelp intestine to mature, prevents allergy,
intolerance.
Vit A richReduces severity of infection prevention eye
disease
Feeding of Newborns
101
Fig. 15.15b: Mature milk, foremilk and hind milk. Fore milk
has more lactose acts as an appetizer and quenches thirst!
Hind milk has high fat and gives satity at the end of each
feed-like a dessert after a meal!
BIBLIOGRAPHY
1. Ruth A. Lawrence Breastfeeding 4th edition Mosby Year-cbook
Inc.
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16
Neonatal Jaundice
Neonatal Jaundice
103
Causes
Pathological Jaundice
Features
5-7 mg/dl
10 mg/dl
12 mg/dl
>15 mg/dl
MINOLTA TRANSCUTANEOUS
BILIRUBINOMETER
This instrument estimates serum bilirubin concentration
with the help of a photoprobe. The probe is pressed
against forehead or sternum. The light passes through
in built fiber optics and reflectometre and is analyzed
by computerized spectrophotometer to provide digital
display of total bilirubin immediately.
Classification (Tables 16.1 and 16.2)
Jaundice in newborns can be physiological and
pathologic. They are summarized below.
Physiologic Jaundice
Features
Appears after 24 hours
Maximum level by 4th or 5th day in term and 7th
day in preterms
Serum level <15 mg/dl
Disappears before 14 days
Disappears without treatment
Appears late and persists little longer in preterms.
1)
2)
3)
4)
24-72 hrs : 1)
2)
3)
4)
>72 hrs :
1)
2)
3)
4)
5)
Hemolytic disease
Intrauterine infections
Crigler-Najjar syndrome
LuceyDriscoll syndrome
Physiological
Sepsis
Polycythemia
Concealed hemorrhage
Septicemia
Neonatal hepatitis syndrome
Breast milk jaundice
Metabolic diseases
Bowel obstructions
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Table 16.2: Etiological classification of jaundice in newborns
Conjugated:
I. Obstruction to biliary flow
Ex: Biliary atresias
Choledochal cyst etc.
II. Hepatic cell injury
Infections: bacterial, viral, parasitic
Idiopathic neonatal hepatitis syndrome
Toxic
Bacterial sepsis
Metabolic
Galactosemia
Fructosemia
Tyrosinemia
Alpha -1-antitrypsin deficiency
Infantile Gauchers disease
Wolman disease
Glycogenosis IV
Neimann-Pick disease
Zellweger syndrome
Byler disease
Immunologic
Lupus erythematosus
Chromosomal disorders
Trisomy 17-18
Trisomy 21
Unconjugated type:
Excessive production of bilirubin
Hemolytic diseases
Extravasation of blood
Polycythema
Swallowed maternal blood
Impaired conjugation or excretion
Hypothyroidism
Hypopituitarism
Crigler-Najjar syndrome I and II
Gilberts disease
Lucey-Driscoll syndrome
Enhanced entero-hepatic circulation
Various types of gut obstructions
I. Chronic bilirubin overload
Erythroblastosis fetalis
Erythrocyte enzyme defects
Congenital erythropoietic porphyria
Spherocytosis elliptocytosis
Pyknocytosis
Approach to a jaundiced neonate: Following maternal and perinatal history is helpful in the evaluation (Tables
16.3 to 16.5).
Table 16.3: Maternal and perinatal history in evaluation of jaundice
Previous sibling with neonatal jaundice
Family history of jaundice, splenectomy,
Mothers blood group information
Maternal illness with fever and rash during pregnancy
Probably history of malaria
Labor and delivery (traumatic delivery)
Delayed cord clamping
PROM, oxytocin, delayed feeding
Delayed passage of meconium and delayed breastfeeding
Maternal drugs
Liver diseases in family
Neonatal Jaundice
105
Treatment of Hyperbilirubinemia
Hydration
Phototherapy
Exchange transfusion
Drugs to increase conjugation
Inhibiting reabsorption in the gut
Inhibiting bilirubin production.
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Table 16.5: Investigation for specific cause of jaundice in infants
Neonatal Jaundice
Table 16.6: Kernicterus
Acute form
Phase I
(First 1-2 days)
Phase II
(Middle of I week)
Phase III
Chronic form
Ist year
After 1 year
Decreased activity
Lethargy
Poor suckling
Hypotonia
Change in infants cry
Hypertonia
Fever
High pitched cry
Opisthotonus
Seizures
Spasticity is decreased
Hypotonia
Active DTR
Obligatory TNR
Delayed motor skills
Movement disorder
Fixed upward gaze
High frequency hearing loss
Mental retardation
Indications
1. Hydrops
2. History of previous sibling requiring exchange
transfusion because of Rh-isoimmunization in a
baby for with pallor hepatosplenomegaly and
positive direct Coombs test.
3. Cord Hb <11 gm/dl
4. Cord total serum bilirubin(TSB) >5 mg/dl
5. Rise of TSB >1 mg/dl/hr despite phototherapy
6. Rate of rise of TSB >0.5 mg/dl/hr despite phototherapy, if Hb is between 11-13 gm/dl
7. Any TSB >12 mg/dl in first 24 hrs and any TSB
>20 gm/dl in neonatal periods.
Technique
107
Perform handwashing
Place the baby naked
Fix eye shields
Keep baby at 45 cm from the source
Start phototherapy
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Technique
1. Scrub and put on a sterile gown and gloves.
2. Place the infant in the supine position and evacuate
the stomach.
3. Perform the umbilical vein catheterization. Prepare
the area. Put sterile drapes on, leaving the umbilical
area exposed. Cut off the excess umbilical cord with
a scalpel, leaving a stump of about 0.5-1cm. Identify
the umbilical vein. The umbilical vein is thin walled,
larger than the 2 arteries and is close to the
periphery of the stump. Take the curved hemostat
and grasp the end of the umbilicus to hold it upright
and steady. Use the forceps to open and dilate the
umbilical vein. Once the vein is sufficiently dilated,
insert the catheter (Figs 16.4c and d).
Neonatal Jaundice
109
Aliquot (ml)
More than 3 kg
2-3 kg
1-2 kg
850 g-1kg
Less than 850 g
20
15
10
5
1-3
Fig. 16.5a: Anti-D immunoglobulin
Maternal antibodies
Hemoglobin level
Serum bilirubin estimation
Hydrops Fetalis (Figs 16.6a to c)
This is the most severe form of Rh-incompatibility.
As a result of destruction of red cells extramedullary
erythropoiesis takes place resulting in hepatosplenomegaly. But worsening of anemia causes hypoxic
damage to liver leading to hypoproteinemia, which
causes severe anasarca and other features.
The typical blown-up appearance of hydrops fetalis
is unmistakable in the postnatal period. The important
features in postnatal period include subcutaneous
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Neonatal Jaundice
Dosage
At 28 weeks: 300 mg of Rh-immunoglobulin and
repeat same dose after delivery.
After C.V.S.: the dosage is 50 mg
In large placental hemorrhage and mismatched
transfusion the dosage is more than 300 mg.
Causes of Nonimmune Hydrops
Causes prolonged unconjugated jaundice
Crigler-Najjar syndrome
Breast milk jaundice
Hypothyroidism
Pylroric stenosis
Ongoing hemolysis
Malaria
111
Etiology
Listed earlier in the Table 16.2.
All conditions causing conjugated hyperbilirubinemia
are pathologic and have a component of cholestasis.
The features of chronic cholestasis are given in the Table
16.9.
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Table 16.10: Difference between neonatal hepatitis syndrome and extrahepatic biliary atresia (Figs 16.9a and b)
Neonatal hepatitis syndrome
Clinical Features
Deep jaundice
Dark urine
Pale stools
Growth retardation
Failure to thrive poor-feeding
Dysmorphic features (trisomy 21, 18, Alagille,
Zellweger, IUI)
Hepatosplenomegaly
Ascites
Cardiac murmur, neurological abnormality
Bleeding (vit K deficiency, platelet deficiency)
Cholestatic features
Neonatal Jaundice
113
Laboratory Findings
Conjugated hyperbilirubinemia
ALT, AST
Alkaline phosphatase later
GGT may
Hypoglycemia
Serum albumin usually normal
Prothrombin time increased
Ultrasoundgallbladder present
Isotope scans
Liver biopsy
Giant cells
Paucity of bile ducts
Bile plugs
Mononuclear cell infiltration
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17
Birth Injuries
Birth Injuries
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Birth Injuries
117
SKULL FRACTURES
Fractures of the skull during labor are relatively
uncommon as the bones are less mineralized and, the
membranous sutures that separate individual bones
Cephal hematoma
Seen at birth
Crosses sutures and midline
Discoloration of overlying skin
Resolves early
Not associated with fracture
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BONE FRACTURES
Fig. 17.3b: Intraventricular bleed
Birth Injuries
119
Predisposing factors
Manifestations
1. Subdural
2. Subarachnoid
3. Periventricular
and intraventricular
More in preterms
a. <32 wks GA
b. <1500 g birth weight
c. With H/O birth asphyxia
4. Intracerebral
Prematurity
<32 wks. GA
<1500 g, birth weight, birth trauma
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should make one suspect a fracture. Careful examination may reveal swelling and pain on passive
movement. They are treated by splinting, the limb.
Closed reduction and casting is needed only when bony
fragments are displaced. Radial nerve injury may occur
in fracture of humerus. Sometimes multiple fractures
may be feature of Battered baby syndrome.
Birth Injuries
121
Clinical features:
Paralysis apparent on 1st or 2nd day
When complete, entire side of face affected
Obliteration of nasolabial fold
Drooping of corner of mouth
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Treatment:
Protect the eye
Observe, as 90% will resolve spontaneously
Surgical intervention after 1 year
Differentiate from CNS causes, nuclear agenesis, and
congenital hypoplasia of depressor muscle of angle
of mouth.
Internal Organ Injury (17.9)
Rupture of the liver, suprarenal gland, spleen and
kidney occurs in that order of frequency. Important
features are given below.
Scrotal Injury (Fig. 17.10)
Soft tissue injury involving scrotum occurs after breech
deliveries and in large babies. Edema, ecchymosis and
Birth Injuries
hematoma secondary to intraperitoneal hemorrhage
due to rupture of solid organs, which requires urgent
attention.
Breech Deformation (Fig. 17.11)
Approximately 3% of babies are born by breech
presentation. Babies born by breech are at increased
risk of developing asphyxia, traumatic birth injuries, soft
tissue injuries, ecchymosis and subcutaneous fat
necrosis. A common deformation seen in newborn of
complete breech includes lower limbs kept flexed at hip
and extended at knee joint that usually resolves after
a few days. Fractures of clavicle and femur are not
uncommon. Brachial palsy, sternomastoid tumors are
common due to difficulties in delivering the aftercoming
head. Major visceral damage like spleen, liver, kidney
rupture can occur during breech extraction and so also
traumatic intracranial hemorrhages. Many fetal and
maternal factors predispose to breech presentation.
Large fetal head, congenital hip dislocation (CHD),
neuromuscular dysfunction (Down syndrome, PraderWilli, Zellweger, Trisomy 13-18. Smith Lemli-Opitz,
Fetal alcohol syndrome, Werdnig-Hoffmann syndrome,
123
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wide spectrum of acts of commission or omission by
the care gives that results in morbidity or death. The
acts can be physical or psychological. The former
category includes acts of omission like not providing
adequate food, clothing, safety, medical care and
schooling and acts of commission like burns, bruises,
and fractures. The psychological maltreatment
encompasses lack of support, love and recognition
insulting, comparing and terrorizing. These abuses have
short and long-term psychological consequences.
BIBLIOGRAPHY
Neonatal Sepsis
18
Neonatal Sepsis
Escherichia coli
Staphylococcus aureus
Klebsiella pneumoniae
Group B streptococci
Table 18.2: Risk factors for neonatal sepsis
Neonatal
Maternal
Hyperthermia
Hypothermia
Lethargy
Irritability
Respiratory distress
Apnea
Cyanosis
Jaundice
Hepatomegaly
Anorexia
Vomiting
Abdominal distention (Fig. 18.1)
Diarrhea
Laboratory Studies
Table 18.4: Laboratory evidence
of sepsis
125
Direct evidence
Indirect evidence
126
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Neonatal Sepsis
127
128
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19
3.
Etiology
Common Bacteria in Neonatal Infection
1. Early-onset sepsis (in the first 48 hours after birth)
Group B Streptococcus
Listeria monocytogenes
Gram-negative bacilli
Streptococcus pneumoniae
Haemophilus influenzae
Anaerobes
Staphylococcus epidermidis
2. Late-onset sepsis (after 48 hours of age)
Staphylococcus epidermidis
Enterococci Klebsiella pneumoniae
Pseudomonas aeruginosa
Escherichia coli
Other Gram-negative bacilli
Staphylococcus aureus
Anaerobes
4.
5.
6.
1. Immunological
Reduced transplacental transfer of maternal IgG
Relative immaturity of all immune mechanisms
2. Exposure to micro-organisms from maternal genital
tract. Preterm labor may be precipitated by infection
(choriamnionitis).
129
Lethargy
Poor feeds
Altered temperature
Seizures
Vomiting
Abdominal distention
Respiratory distress
Bulging fontanel
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Table 19.2: Ophthalmia neonatorum
Causative agent
Diagnosis
Treatment
Chemical
Silver nitrate
Bacterial
Gram-positive-erythromycin oint.
Gram-negative gentamicin
N. gonorrhoeaeIV Penicillin G
Chlamydial
Chlamydia trachomatis
Viral
None
Adapted from O Hara MA: Ophthalmia neonatorum. Pediatr Clin North Am 40:715, 1993.
131
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133
134
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Fig. 19.9c: Septic arthritis of both knee joints. Note soft tissue
swelling of both knees. Periosteal reaction along shaft of
right tibia and left femur. Note erosion of upper tibia and
lower end of femur on right side
Fig. 19.9d: Septic arthritis. X-ray right knee showing soft tissue swelling and widening of
joint space suggestive of joint effusion
Intrauterine Infections
20
135
Intrauterine Infections
Growth retardation
Hepatosplenomegaly
Jaundice
Hemolytic anemia
Petechiae/ecchymoses
Microcephaly/hydrocephaly
Intracranial calcification
Pneumonitis
Myocarditis
Cardiac abnormalities
Choreoretinitis
Keratoconjunctivitis
Cataracts
Glaucoma
Non-immune hydrops
Genital sore, partner with sexual transmitted disease, previous history of II trimester abortion, stillbirth, affected child.
Contact with cats, eating raw meat, flu-like illness, titer values if available.
Fever with or without rash, often asymptomatic, vaccination status for rubella. (MMR, or rubella
alone), Rubella serum titer values if available
Jaundice in mother, HBsAg carrier status
Genital sores, serum titer values if available
Flow chart 20.1: Serological and viral approach in suspected intrauterine infections
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Intrauterine Infections
137
Toxoplasmosis: Triad of
Hydrocephalus
Stippled intracranial calcification (Figs 20.1a and b)
Chorioretinitis
Rubella
Bilateral central cataract (Fig. 20.2), glaucoma,
pigmented retina.
Blue berry Muffin syndrome
Bones showing vertical striatia
Herpes
Vesicular skin lesions and scarring
Curvilinear intracranial calcification
Seizures
Syphilis
Joint swellings
Snuffles
Hepatosplenomegaly
Skin rash (Figs 20.4a and b)
Jaundice, anemia
Metaphyseal osteochondritis, periostitis (Figs 20.4c
to e): VDRL, FTB-ABS, TPI
138
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Intrauterine Infections
139
140
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21
Intrapartum Transmission
141
Fig. 21.1: Three positive tests using three different kits of different manufacturers is considered confirmatory evidence
for HIV-positivity western blot test which is a confirmatory test is not available easily and is expensive and as per the new
guidelines not necessary for confirmation. DNA, RNA, PCRs and viral cultures are other confirmatory tests used commonly
in developed world
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Flow chart 21.1: Diagnostic algorithm
Table 21.2: Treatment regimens for HIV-positive pregnant woman (Fig. 21.2)
Pregnant woman
with no prior ART
Antepartum
Intrapartum
Postpartum to newborn
Infant-feeding
Exclusive breastfeeding.
143
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Fig. 21.6: Waste should be disposed off in appropriate containers. Blue bin: Syringes, IV dripsets, catheters, Ryles tube
and other plastic wastes. White bin: Sharp objects like blades,
needle, and glass pieces. Yellow bin: Body fluids, dressing
material like gauze pieces contaminated with blood, or pus
145
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Basic regimen: Four weeks (28 days) of both Zidovudine 600 mg/day in
2-3 divided doses and Lamivudine 150 mg twice a day.
Expanded regimen: Basic regimen plus either Indinavir 800 mg every 8 hrs or
Nelfinavir 750 mg three times a day.
Indinavir should be taken on empty stomach (i.e. without food or with a light meal)
and with increased fluid consumption.
Nelfinavir should be taken with meals.
147
HIV SC
1
1
1
2
1 or 2
UNKNOWN
PEP recommendation
PEP may not be warranted
Consider basic regimen.
Exposure type poses a negligible risk for HIV transmission
Recommended basic regimen
Most HIV exposures are in this category ; no increased risk for HIV
transmission has been observed but use of PEP is appropriate
Recommended expanded regimen.
Exposure type represents an increased HIV transmission risk.
Recommended expanded regimen.
Exposure type represents an increased HIV transmission risk.
If the source (in the case of an unknown source), the setting where the
exposure occurred suggests a possible risk for HIV exposure and the EC
is 2 or 3, consider PEP basic regimen.
BIBLIOGRAPHY
1. Diagnosis of HIV infection in children. Pediatr Clin N Am
2000: 47:39-63.
148
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22
Hypoxic Ischemic
Encephalopathy
Stage 2:
Stage 3:
Hyper-alert
Normal muscle tone
Weak suck
Low threshold Moro
Mydriasis
No seizures
Lethargic or obtunded
Mild hypotonia
Weak or absent suck
Weak Moro
Miosis
Focal or multifocal seizures
Stuporous, responds to strong stimuli only
Flaccid
Intermittent decerebration
Absent suck
Poor pupillary light response
Adapted from: Sarnat HB, Surnat MS. Neonatal encephalopathy following fetal distress. Arch Neurol 1976; 33:696.
Mild:
Consciousness:
Tone:
Seizures:
Time course:
Prognosis:
Moderate:
Consciousness:
Tone:
Seizures:
Time course:
Prognosis:
Severe:
Consciousness:
Tone:
Seizures:
Time course:
Prognosis:
149
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23
Problems of
Temperature Regulation
THERMONEUTRAL TEMPERATURE
For a particular gestational and postnatal age, there is
a narrow range of temperatures in which oxygen
requirement by the baby is at the lowest. This narrow
range is termed as thermoneutral temperature. If the
ambient temperature fall above or below this, metabolic
rate increases interfering with growth.
NONSHIVERING THERMOGENESIS
As said above, newborn do not shiver and produce
heat. Instead heat is produced by the breakdown
of metabolically-active adipose tissue called brown
fat. Blood gets warmed as it passes through brown fat
and rewarms rest of the body. The distribution of brown
fat is shown in the Figure 23.2 and important
differentiating features form ordinary fat are shown
in Table 23.1.
151
White fat
Thin skin
Increased body surface area to weight ratio
Decreased subcutaneous fat
Decreased amount of brown fat
Extended posture, which exposes more skin surface
Under developed autonomic regulation of cutaneous
vasculature
Clinical Features
Management
Rewarming: slow rewarming by keeping the ambient
temperature 1.5C higher than skin temperature is
recommended.
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Administer oxygen
Monitor blood glucose
Correct metabolic acidosis by sodium bicarbonate.
Prevention of Hypothermia in Newborn
In Delivery Room
Use prewarmed sheets to receive the baby
Dry the baby well, with warm towels with special
attention to dry up the scalp
Remove moist, soiled linen and wrap the baby in
fresh, warm sheets
Practice kangaroo care as soon as feasible.
In the Nursery
Incubator (Fig. 23.4a): It is a closed system of maintaining euthermia. When a baby is kept inside an
incubator, convective heat losses are reduced by
reducing air currents. Radiation losses are controlled by
hood or canopy (single or double walled). Conductive
losses are also reduced by maintaining a warm
microenvironment. In India most intensive care units
have single walled incubators. If the room temperature
is low the infant looses heat to cold incubator wall.
Thus, double walled incubators in which the
temperature of the inner wall is not affected by a cooler
room temperature should be preferred.
Main parts of an incubator:
Humidity tank
Hood or canopy
A servo control system for automatic adjustment in
the ambient temperature. This has two types of
control systems: air mode (Fig. 23.4b) and baby
mode (Fig. 23.4c) as shown in the picture.
Advantages: (Table 23.3)
Good thermal regulation
Use is preferred in extremely small or sick babies.
Readily cleanable.
Disadvantages: Access to infants difficult
Not suitable for undertaking prolonged procedures
like exchange transfusion
Increased risk of infection
Costly.
153
Disadvantages:
Not preferable in extremely small or gravelly sick
neonates
Temperature control less optimal due to heat loss
Room Heaters (Fig. 23.6)
Skin sensor
Control panel
Temperature display
Alarms for safety.
Incubator
Modified and adapted from: Deodari AK, Paul VK. Neonatal equipment 2001, 2nd edn Sagar Publications: New Delhi.
154
An Atlas of Neonatology
If baby is in incubator or on ventilator care, start
with short duration and extend progressively.
Infants should be naked except for diaper and cap
Put the infant with flexed limb on mothers bare
chest, between her breasts and inside her clothing.
Extend babies neck to prevent obstructive apnea.
Monitor vital signs including temperature
Benefits of KMC:
Has popular appeal
Promotes breastfeeding
Babies remain physiologically more stable including
thermally.
Boosts maternal confidence and bonding.
Decreases risk of infection
Cheaper and safer than any other warming device
Warm chain:
The warm chain is a concept introduced to describe a
set of interlinked procedures, which will minimize the
likelihood of development of hypothermia. Any breach
in the chain of procedures increases the risk of
hypothermia. The links of warm chain are given in the
information box:
1. Training all persons involved in the birth and
subsequent care of the baby.
2. Preparing the place of delivery by ensuring a warm,
draught free room.
3. Immediate drying of the newborn baby.
4. Wrapping the baby and giving it to the mother
quickly after birth.
5. Putting the baby to the mothers breast
6. Putting a warm cap on the babys head
7. Ensuring a warm, safe transport if necessary.
BIBLIOGRAPHY
1. Klaus MH, Fannroff AA. In Klaus MH, Fanaroff AA (eds).
Care of the High Risk Neonate. 5th edn W.B. Saunders
Company 2001.
2. Kirsten GF et al. Kangaroo mother care in the nursery.
Pediatr Clin N Am 2001; 48; 443-445.
Neonatal Convulsions
24
Neonatal Convulsions
155
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An Atlas of Neonatology
Table 24.3: Differences between seizure and jitteriness
Features
Seizure
Jitteriness
Present
No
Clonic jerking
No
Abnormal
Absent
Yes
Tremor
Yes
No change
Neonatal Convulsions
157
Uncommon
Anoxia, IVH
Hypernatremia, hyponatremia, hypomagnesemia
hypocalcemia, anomalies CNS infection, accidental injection of local anesthetic
Birth trauma
Sepsis, TORCH
Hypoglycemia, sepsis
Drug withdrawal e.g., (pyridoxine)
Sepsis or meningitis, hypocalcemia, Kernicterus
Zinc deficiency
158
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Neonatal Convulsions
159
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25
Bleeding Neonate
Clinical Presentation
Etiology
The causes are listed in the Table 25.1.
Bleeding Neonate
Figs 25.1a and b: Umbilical bleed. This is how this baby who
was brought to the hospital. A diagnosis of Factor 13
deficiency was made by family history, bleeding despite
receiving vit K, and urea dissolution test
161
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An Atlas of Neonatology
Well
Platelets
PT
APTT
N
N
N
N
N
N
N
N
N
N
N
Diagnosis
DIC
Platelet consumption
Liver disease
Vascular hypoxia, acidosis, prematurity
Immune thrombocytopenia marrow aplasia
HDN
Inherited coagulopathy
Trauma factor XIII deficiency Glanzmanns syndrome
Classical
Late
Age
<24 hr
2-7 days
2-8 wks
Causes/risk factors
Medications during
pregnancy-INH, RMP
Anticonvulsants
V K content in breast
milk, sterile gut
Treatment
Discontinue offending
agent, maternal vit K
prophylaxis
Manifestations
Cephal hematoma
Subgaleal hemorrhage
Intracranial hemorrhage
Gastrointestinal
Umbilicus
Intra-abdominal
Gastrointestinal
ENT bleed
Intracranial
Circumcision
Cutaneous
Gastrointestinal
Injection site
Intracranial
Gastrointestinal
Cutaneous
ENT Bleed
Injection site
Thoracic
26
Macrosomia
Congenital anomalies
Hypoglycemia
Hypocalcemia/hypomagnesemia
Polycythemia/hyperbilirubinemia
Respiratory distress syndrome
Transient tachypnea of the newborn
Hypertrophic cardiomyopathy
Small left colon (Fig. 26.1)
Renal vein thrombosis
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Table 26.3: Diabetic embryopathy
Location
Malformations
CNS
Open neural tube defects, holoprosencephaly absent corpus callosum, Arnold-Chiari anomaly,
schizencephaly, microcephaly, macrocephaly, agenesis of olfactory tracts, hydrocephaly, bizarre
undergrowth or overgrowth of brain
Transposition of great vessels, VSD, ASD, TOF, CoA, SUA, hypoplastic left heart, cardiomegaly
Pyloric stenosis, duodenal atresia, microcolon, anorectal atresia, omphalo-enteric cyst/fistula, hernias
Renal agenesis, renal cysts, hydronephrosis, duplication of ureter, ureterocele, uterine agenesis, hypoplastic
vagina, micropenis, hypospadias, cryptorchidism, hypoplastic testes, ambiguous genitals
Caudal dysgenesis/deficiency (Fig. 26.2), craniosynostosis, costovertebral anomalies, limb reduction, cleft
palate, club foot, contractures, polysyndactyly
Situs inversus, microphthalmia, colobomas of iris or chorioretina, anterior chamber dysgenesis,
diaphragmatic hernia, bronchial arch anomalies, choanal atresia, aplasia cutis, cutaneous vascular dysplasia
Cardiovascular
Gastrointestinal
Urogenital
Musculoskeletal
Others
Results
Carbohydrate
Hyperglycemia
Hyperglycemia in rats>humans
Lipid metabolism
Protein metabolism
Trace metals metabolism
Sorbitol
Nonenzymatic glycosylation of proteins
Radical O2 species
Collagen
Uptake of myoinositol
Arachidonic acid
Uptake of vitamin C
Prostaglandins
Superoxide dismutase
Ketones (hydroxybutyrate and keto-isocaproic acid)
Somatomedin inhibitors
Insulin
Zinc
Fig. 26.3c: Infant of diabetic mother. Note macrosomia. Also note characteristic hairy pinna
166
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27
Neonatal Anemia
Pallor
Pallor is the external manifestation of severe anemia,
but pallor may be seen in other condition like shock,
asphyxia, and hypothermia etc. Preterm babies may
not look pale despite anemia due to presence of thin
skin.
Hemolysis
1. Immune
Rh/blood group incompatibility
maternal autoimmune hemolytic
anemia
2. Infection
Bacterial sepsis
Congenital infection including
malaria
3. DIC
4. Macro or micro-angiopathic
anemia
5. Red cell membrane disorders
6. Red cell enzyme deficiencies
7. Thalassemias - and
8. Structural abnormality of and
chains
9. Galactosemia
10. Pyknocytosis
11. Prolonged acidosis
Decreased production
1. Diamond-Blackfan syndrome
2. Pearsons syndrome
3. Congenital infections
Human parvovirus
Adenovirus
CMV
Rubella
Hemangiomas (Fig. 27.4)
Congenital Leukemia
(Fig. 27.5)
4. Down syndrome
5. Osteoporosis
Modified and adapted from: Nathan and Oskis Hematology of Infancy and Childhood 5th edn. W.B. Saunders Company.
Neonatal Anemia
167
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Neonatal Anemia
Flow chart 27.1: Algorithm for lab evaluation of neonatal anemia
169
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Table 27.2: Clinical evaluation of anemia in newborn
Respiratory Distress
28
171
Respiratory Distress
Surgical
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Terms
RDS
Pneumonia
Asphyxia
TTNB
MAS
Pneumonia
TTNB
Malformations
Acidosis
Others
None
None
Good
60-80
None with
40% FiO2
Mild
Minimal
Decreased
>80
Needs > 40%
FiO2
Severe
Obvious
Very poor
Respiratory Distress
Flow chart 28.1: Pathophysiology of HMD
173
Clinical Features
Radiologic Features
Predisposing
Prematurity
Protective
Cesarean section
Asphyxia
Maternal diabetes
PROM
IUGR
Steroid
TRH
Hyperinflation
Patchy atelectasis
Air leaks:
Pulmonary interstitial emphysema
Pneumothorax (Fig. 28.3d)
1.
2.
3.
4.
5.
6.
7.
8.
9.
10.
Pneumonia
Tracheo-esophageal fistula
Pulmonary hypoplasia
MAS, TTNB
Polycythemia, asphyxia
HMD, polycythemia, CHD, hypoglycemia
TTNB
Nasal stuffiness
HMD
Pneumothorax
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Pneumomediastinum
Pneumopericardium (Figs 28.3e and f)
Pneumoperitonium
Subcutaneous emphysema
Respiratory Distress
175
2. Nosocomial pneumonia
3. Aspiration pneumonia
Diffuse involvement on X-ray is suggestive of
congenital pneumonia. Where as bronchopneumonic
pattern is suggestive of transnatally-acquired infections.
Aspiration pneumonias as in esophageal artesia usually
involve right upper, lower lobes of lungs.
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29
Cyanosis
Cyanosis is the external manifestation of presence of
excessive deoxygenated hemoglobin, which is clinically
detected by blue mucous membranes, nailbeds and
skin. It becomes clinically apparent when the absolute
concentration of deoxygenated hemoglobin exceeds
5 g/dl. Cyanosis due to hypoxemia i.e. central cyanosis
(Fig. 29.1a) should not be confused with acrocyanosis
(Fig. 29.1b), which is blueness of the extremities and
perioral region. This is caused by peripheral
Pulmonary
Neurologic
Hematologic
177
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179
Typical lesions
50
99
90
50
67
40
>50
35
20
40
25
>50
<50
14
-
VSD, CAVC
VSD, CAVC, DORV
VSD
VSD
ASD
TAPVR
VSD
COA, Bicuspid aortic valve
VSD
ASD
VSD
PDA
VSD
PDA
VSD
Trisomy 21
Trisomy 18
Trisomy 13
Trisomy 8
Trisomy 22
Trisomy 22 (partial)
Trisomy 9
45 x (Turner)
5 P (Cri du chat)
4 P (Wolf)
13 q
Partial trisomy 14 q
18 q
XXXXY
Triploidy
Modified and adapted from: Copel JA, et al. Congenital heart disease and extra cardiac anomalies:
Associations and indications for fetal echocardiography. Am J Obstet Gynecol 1986; 154: 11211132
VSDventricular septal defect; CAVCcomplete atrioventricular canal; DORVdouble outlet right
ventricle; ASDatrial septal defect; TAPVRtotal anomalous pulmonary venous return; COA
coarctation of aorta
Flow chart 29.1: Differentiation of cardiac and
noncardiac cyanosis
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Table 29.3: Recurrence risks after an isolated defect
Population incidence
10,000
Sibs
Recurrence % Offspring
21
7
5.5
5
4
3.5
3.5
3
4
1.5
1.2
2
1.5
1.7
2
3
2.3
2.2
1.4
1.7
3.1
1.5
2
1.7-8 (?3)
1
1
1
1
5
1
1.9-3
2.5
3
2.3
?
3.9
2.7
4
5-10
Abnormality
% of associated CHD
CNS
Hydrocephalus
Dandy-Walker malformation
Agenesis of corpus callosum
Meckel-Gruber syndrome
Neural tube defects
Microcephaly
Holoprosencephaly
5-15
2-4
15
14
-
GIT
34
15-40
17
5
22
12
20-32
8
10-22
Genitourinary
43
17
39
5
2
1.
2.
3.
4.
5.
6.
7.
8.
9.
10.
11.
12.
13.
14.
15.
16.
17.
Syndromes
Features
181
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An Atlas of Neonatology
30
Twins are always viewed with interest and sometimes
in the past with superstition. Some such superstitions
are given below.
Twins were believed to have magical power over
nature.
In South-East Asian countries, the mother of twins
was considered impure.
Some Indian tribes believed that twins were derived
from fish and hence were not allowed to go near
water.
In some African and South American countries, a
woman consuming two bananas growing from a
single head or double grain of millet was believed
to give birth to twins.
Siamese Twins
Chang (meaning left) and Eng (meaning right) were
born as conjoined twins in Siam (now Thailand). They
learnt to stand at 12 years and were taken to USA at
17 years. Chang and Eng married two sisters. Chang
had ten children and Eng had nine. Both died at the
age of 63 within a few hours of each other.
Twins
Incidence of Twins
Twins
183
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Twins
185
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Twins
187
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An Atlas of Neonatology
Incidence
1% of monozygotic twins
70% of affected pairs are females
Classification
Fig. 30.6k: Infantogram of conjoined twins
thoracopagus type
Twins
1. Thoracopagus including xiphopagusjoined at
chest
2. Omphalopagusanterior abdominal wall
3. Pygopagusat the buttocks
4. Ischiopagusat the ischium
5. Craniopagusat the head
6. Heteropagus or asymmetricalthis can be:
An externally-attached parasitic twin
An enclosed fetus in fetus
An internal teratoma
An acardia connected via the placenta.
Antenatal diagnosis is possible by ultrasonography. Most of these twins are still born. In live
borns, prognosis depends on the extent of
shared organs.
189
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BIBLIOGRAPHY
1. Bryan EM. The nature and nurture of twins. Bailliere
Tindall. Am J Obstet Gynecol 1973; 116: 358-365.
2. Kulkarni ML et al. Conjoined twins. Indian Pediatrics 1994,
31: 1017-1024.
3. Kulkarni ML et al. Hetrophagus conjoined twins: Pediatrics
Today 2003: VI, 259-267.
4. Spellacy WN. Antepartum complications in twin
pregnancies. Clin Perinatol 1988; 15: 79-86.
5. Quintero RA. Twin-Twin transfusion syndrome. Clin
Perinatol 2003; 30: 591-600.
Examination of Placenta
31
Examination of Placenta
IMPORTANCE OF PLACENTAL
EXAMINATION
Abruptio placentae
Placental infarction
Decidual vascular lesions
Umbilical and chorionic vascular lesions
Infections
Tumors and hamartomas
Amniotic disruption syndrome.
191
Explanatory
Mitigating
Disputative.
Miscellaneous Fetal/Neonatal Disorders in
which Placental Study may be Informative
Congenital infection (chorioamnionitis, villitis, villous
edema)
Hematologic disorders
Hemolytic disease of newborn (increased weight,
villous edema, fetal erythroblastemia and
normoblastemia, intravillous hematopoiesis)
-thalassemia (increased weight, villous edema, fetal
erythroblastemia and normoblastemia, intravillous
hematopoiesis)
Congenital leukemia (fetal leukocytosis, intravillous
hematopoiesis)
Congenital nephrosis (increased weight, villous
edema)
Congenital neuroblastoma (villous intravascular
tumor cells)
Triploidy (partial hydatidiform mole)
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Diabetes mellitus
Pregnancy-induced hypertension
Premature rupture of membranes
Preterm delivery (before 36 weeks)
Post-term delivery ( 42 weeks)
Unexplained fever
Poor previous obstetrical history
History of drug abuse, including cocaine
Fetus/Newborn
Stillborn
Neonatal death
Multiple gestation
Prematurity
Intrauterine growth retardation
Congenital anomalies
Erythroblastosis fetalis
Transfer to neonatal intensive care unit
Ominous fetal heart tracing
Presence of meconium
Apgar score below 5 at 1 minute or below 7 at 5
minutes.
Placental/Umbilical Cord
Infarcts
Abruptio placenta
Vasa praevia
Placenta previa
Abnormal calcification
Abnormal appearance of placenta or cord.
Examination of Placenta
Large placentas
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Fenestrated Placenta
In this abnormality the central portion of the placenta
is missing, and some times there may an hole in the
placenta. The clinical significance of this is that it may
be mistaken for missing lobe of placenta after its
extraction.
Marginal Insertion (Fig. 31.3e)
Here the cord is inserted at the placental margin, it is
sometimes referred to as a battledore placenta. It is
found in 7% of term placentas. The rare significance
of this is that sometimes cord may be pulled off from
the placenta.
Circumvallate Placenta (Fig. 31.3b)
Fig. 31.3d: Bipartite placenta
Examination of Placenta
195
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Examination of Placenta
197
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Patients identification
Date and time of delivery
Date and time of examination
Maternal information:
a. Diabetes mellitus
b. Hypertension
c. Bleeding (all trimesters)
d. Infection
e. Any other history or finding that is deemed
significant
Incidence (%)
Significance
5-20
0.5-2
None
Ab, IUGR, CA. Premature labor, fetal malformation
Membranous (diffuse)
Rare
Rare
Rare
5-8
0.04-4.2
Rare
0.04
(live births)
Examination of Placenta
5.
6.
7.
8.
9.
10.
11.
12.
13.
199
d. Amnion nodosum
e. Subamniotic hemorrhage
f. Subchronichematoma, cyst
g. Any other abnormality (specify)
Maternal surface
a. Color: pale, plethnic, normal
b. Infarction: site, percentage
c. Thrombus: fresh/old
Hemorrhage
Dimensions:
Lengthlargest diameter
Widthsmallest diameter
Thickness
Any other gross abnormality
BIBLIOGRAPHY
1. Benirschke K. Examination of the placenta. 1961; 18: 309.
2. College of American Pathologist Conference XIX on the
examination of placenta. Arch Pathol Lab Med 1991; 115:
660-721.
3. Lewis SH, Gilbert-Barness E. The placenta and its
significance in neonatal outcome. Advances in Pediatrics
Mosby Inc 1998;45:223-42.
4. Naeye RL. Umbilical cord length: Clinical significance. J
Pediatr 1985; 107: 278-81.
200
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32
Congenital Malformations
Congenital Malformations
Table 32.1: Birth defects monitored by the metropolitan Atlanta congenital defects program
and the birth defects monitoring program, 1991
CNS defects
Orofacial defects
Anencephaly
Spina bifida
Encephalocele
Hydrocephalus
Microcephaly
Anophthalmia and microphthalmia
Congenital cataract
Coloboma of the eye
Aniridia
Cardiovascular defects
Tetralogy of Fallot
Atrial septal defect
Endocardial cushion defect
Pulmonary valve stenosis and atresia
Tricuspid valve stenosis and atresia
Aortic valve stenosis
Hypoplastic left heart syndrome
Patent ductus arteriosus
Coarctation of the aorta
Pulmonary artery stenosis
Lung agenesis and hypoplasia
Cleft palate
Total cleft lip
Gastrointestinal defects
Tracheoesophageal anomalies
Rectal and intestinal atresia eye defects
Genitourinary defects
Renal agenesis and dysgenesis
Bladder exstrophy
Musculoskeletal defects
Transposition of the great vessels
Limb reduction defects
Arthrogryposis
Omphalocele
Gastroschisis
Chromosomal defects
Down syndrome
Trisomy 13
Trisomy 18
Genitalia
Labial adhesions
Hydrocele
Mild hypospadias
Undescended testis
Anus and perineum
Anal tags
Anal stenosis
Back
Sacral dimples
Skin
Isolated pigmented nevi
Small vascular nevi
Skin dimples overlying bony prominences
Hair
Upswept posterior hairline
Supernumerary scalp hair whorl
White forelock
Nails
Spooned nail
Nail grooves
Infantile bowleg
Camptodactyly of fifth fingers
Hands
Clinodactyly of fifth fingers
Potters thumb
Feet
Syndactyly of second and third toes
Short fourth metatarsal.
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Table 32.3: Causes of congenital malformations
Twinning
Conjoined twins, intestinal atresia, porencephaly
Effect on fetus
Accutane (isotretinoin)
Alcohol
Aminopterin
Amphetamines
Azathioprine
Busulfan (Myleran)
Carbamazepine
Carbon monoxide
Chloroquine
Chorionic villus sampling
Cigarette smoking
Cocaine/crack
Cyclophosphamide
Danazol
17-ethynyl testosterone (Progestoral)
Hyperthermia
Lithium
6-Mercaptopurine
Methyl mercury
Methyltestosterone
Misoprostol
Contd...
Congenital Malformations
203
Contd...
Norethindrone
Penicillamine
Phenytoin
Polychlorinated biphenyls
Prednisone
Progesterone
Quinine
Stilbestrol (diethylstilbestrol [DES])
Streptomycin
Tetracycline
Thalidomide
Toluene (solvent abuse)
Trimethadione and paramethadione
Valproate
Vitamin D
Warfarin (Coumadin)
CNS central nervous system; IUGR- intrauterine growth restriction; LBWlow birth weight
Adapted from: Stoll BJ, Kliegman RN. In Behrman RE, Kliegman RM, Jenson HB (Eds): Nelson Textbook of Pediatrics 17th edition, W.B.
Saunders Company: Philadelphia.
A condition in which head shape is shortened from front to back along the sagittal plane; the skull
is rounder than normal
A condition of having short digits
Speckled white rings about two thirds of the distance to the periphery of the iris of the eye
Permanent flexion of one or more fingers associated with missing inner phalangeal creases indicating
lack of finger movement from before 8 wk gestation
A medical or lateral curving of the fingers and usually refers to incurving of the 5th finger
An unusually small nail on a digit
This designation is made when the helix meets the cranium at a level below a horizontal plane that
is an extension of a line through both inner canthi
A suffix meaning limb (e.g. Amelia-missing limb; brachymelia-short limb)
Increased distance between the pupils of the two eyes
A condition in which head shape is asymmetric in the sagittal or coronal planes; can result from
asymmetry in suture closure or from asymmetry of brain growth
A single whorl occurs to the right or left of midline and within 2 cm anterior to the posterior fontanel
in 95% of cases. The whorl represents the focal point from which the posterior scalp skin was under
growth tension during brain growth between the 10th and 16th wk of fetal development. Aberrant
position of the whorl reflects an early defect in brain development
Extra finger or toe present on the medial side of the hand or foot
Extra finger or toe present on the lateral side of the hand or foot
Relative overgrowth of the lateral palatine ridges secondary to a deficit of tongue thrust into the hard
palate
A condition in which the head is elongated from front to back in the sagittal plane; most normal skulls
are scaphocephalic
The scrotal skin joins around the superior aspect of the penis and represents a mild deficit in full
migration of the labila-scrotal folds
Decreased horizontal distance of the eye based on measurement from the inner to the outer canthus
Incomplete separation of the fingers. It most commonly occurs between the 3rd and 4th fingers and
between the 2nd and 3rd toes
Eyebrows that meet in the midline
Lateral displacement of the inner canthi. The inner canthal distance is increased, but the inner papillary
distance is normal
V-shaped midline, downward projection of the scalp hair in the frontal region. It represents an upper
forehead intersection of the bilateral fields of periocular hair growth suppression. It usually occurs
because of the fields are widely spaced, as in ocular hypertelorism.
Adapted from: Stoll BJ, Kliegman RN. In Behrman RE, Kliegman RM, Jenson HB (Eds): Nelson Textbook of Pediatrics 17th edition, W.B.
Saunders Company: Philadelphia.
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CNS MALFORMATIONS
Overview of Brain Development
Among congenital malformations, anomalies of CNS
rank the most frequent and the most tragic of all which
afflict man.Accurate diagnosis is important in the
prevention of CNS malformations through genetic
counselling and prenatal diagnosis. Also several
correctable defects can be repaired.
The formation of central nervous system begins in
embryonic stage and continues throughout gestation.
Any disruptive factor occurring at any time during
pregnancy is capable of disturbing the process. The first,
and to a lesser extent, second trimesters are more
vulnerable periods. For simplicity cerebral development
can broadly be divided into two periods: external
cerebral formation and internal cerebral formation.
External cerebral formation occurs in first 6 weeks of
life and its disruption results in gross and easily
observable malformation. Internal cerebral formation,
takes place after first 6 weeks, and its disruption usually
causes subtle but equally important dysgenesis.
External Cerebral Formation
This takes place in two phases: Dorsal and ventral
induction. Dorsal induction begins with the formation
of the neural plate and ends with closure of the posterior
neuropore. Ventral induction results in differentiation
and cleavage of forebrain to form face and cerebral
hemispheres. The anatomical malformations produced
during external cerebral formation are given in Table
32.6.
Embryonal derangement
Disorders
Interaction between
mesoderm and forebrain
Holoprosencephalies
Anatomical abnormality
Congenital Malformations
205
Embryonal derangement
Disorder
Anatomical abnormality
Proliferation
(2-4 months)
Microcephaly vera
Macrocephaly
Migration
(3-5 months)
Schizencephaly
Lissencephaly
Pachygyria
Polymicrogyria
Heterotopias
Organization
(6 months to
several years)
Mental retardation
seizure,
Down syndrome
Myelination
(6 months-20 yrs)
Oligodendroglia proliferation
De/Dys myelination
syndromes
Lysosomal disorders
Peroxisomal disorders,
storage disorders,
Canavan and
Alexander disorder
From: Schaefer GB, Sheth RD, Bodensteiner JB. Cerebral dysgenesis: An overview. Neurologic Clinics. 1994: 12 (4); 773-788.
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Chromosome abnormalities
13 trisomy
18 trisomy
Triploidy
Other abnormalities, such as unbalanced
translocation and ring chromosome.
Probably hereditary, but mode of transmission not
established
Syndrome of occipital encephalocele, myopia,
and retinal dysplasia
Anterior encephalocele among Bantus and Thais.
Teratogenes
Valproic acid (phenotype includes spina bifida)
Aminopterin/amethopterin (phenotype includes
anencephaly and encephalocele)
Thalidomide (phenotype includes, rarely,
anencephaly and meningomyelocele)
Maternal predisposing factors
Diabetes mellitus (anencephaly more frequent
than spina bifida)
Specific phenotypes, but without known cause
Syndrome of craniofacial and limb defects
secondary to aberrant tissue bands (phenotype
includes multiple encephaloceles)
Cloacal extrophy (phenotype includes myelocystocele)
Sacrococcygeal teratoma (phenotype includes
meningomyelocele)
Syndromes and Conditions Associated with NTD
1.
2.
3.
4.
5.
6.
7.
8.
9.
10.
11.
12.
13.
14.
ABS
Caudal regression syndrome
Sirenomelia
Cloacal extrophy
Hydrolethalus
Jarcho-Levin syndrome
Meckel-Gruber syndrome (encephalocele)
Median cleft face
OFDSorofaciodigital syndrome
Pentalogy of Cantrell
Renal agenesis
Roberts syndrome (encephalocele)
Walker-Warburg syndrome (encephalocele)
VATER
15.
16.
17.
18.
Trisomy 13 and 18
Trisomy 9
Triploidy
Teratogenes (aminopterin, tegretol, clomiphene,
valproic acid, methotrexate, progestin, dextroamphetamine, caumadin, cytrabine, hyperthermia
and radiation, diabetes).
Table 32.8: Classification of NTD
Congenital Malformations
207
Fig. 32.1e: Spectrum of facial dysmorphism in Holoprosencephaly. (A) Cyclopia (single median eye) (B) Cyclopia
with single median eye and various degree of doubling of
ocular structures. (C) Cyclopia with proboscis (D) Ethmocephaly (ocular hypotelorism) and proboscis between eyes.
(E) Cebocephaly (ocular hypotelorism and single nostrial
nose) (F) Median clefting and ocular hypotelorism
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Fig. 32.1f: Schematic drawing of the neonatal brain seen from above.
(a) Normal both cerebral hemispheres and lateral ventricles are
completely separated. (b) Alobar holoprosencephaly with absence
of division of the cerebral hemispheres and single primitive
ventricular cavity. (c) Semilobar holoprosencephaly with incipent
separation of the hemispheres in the occipital area and partial
development of occipital and temporal horns of the ventricle (d) Lobar
holoprosencephaly almost completely separated cerebral
hemispheres ventricles are almost separated except for frontal
region and are mildly-dilated
Congenital Malformations
other anomalies. Absence of nasal septum and single
midline incisor may be the only facial features in
autosomal dominant holoprosencephaly.
All malformations encountered in holoprosencephaly originate from a single primary defect in
morphogenesis thought to be in the prechordal
mesoderm interposed between the roof of the mouth
and the prosencephalon that takes place around third
week of embryonic period. Prechordal mesoderm is
also responsible for the normal development of the
midian facial structure.
The etiology of holoprosencephaly is heterogenous,
and has been described in i) Chromosomal abnormalities: Trisomy 13, Trisomy 18, del 13q del 18 p,
Triploidy, del 2p dup 3p, del 7, and other rarer
chromosomal abnormalities. ii) Monogenic disorders:
Meckel-Gruber syndrome, Autosomal recessive and
dominant X-linked holoprosencephaly, velocardiofacial
syndrome, Marfan syndrome, campomelic dysplasia,
etc.
In addition to heterogenicity of its origin, holoprosencephaly is associated in few cases of neural tube
defects, frontonasal dysplasia, Goldenhar syndrome,
and CHARGE association. In Trisomy-13 syndrome
holoprosencephaly is present in about 70% of cases,
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Congenital Malformations
or palate, club feet and omphalocele. Most cranial vault
is absent; frontal bone above supraorbital region and
parietal bone and squamous part of occipital bone are
absent. The crown of head is covered by a vascular
membrane known as area cerebrovasculosa. Beneath
the mass, few remnants of cerebral hemisphere are
found. Diencephalic and mesencephalic structures are
either completely or partly destroyed. Pituitary and
posterior fossa structures are often preserved. Buling
eyes (frog eyes), large tongue, and very short neck with
absence of cranial vault give anencephalic characteristic
appearance.
Prenatal diagnosis is easily made by elevated AFP
and by ultrasonogram as early as 12-13 wks of
gestation. The condition is immediately fatal. About
30% are born alive, but die soon after. These babies
are a potential source of organs for transplantation.
Polyhydramnios and excessive fetal activity are
common. Breech presentation, premature birth, still
birth are common and when cephalic presentations
present in late pregnancy ultrasound identification may
be difficult.
Encephaloceles (Figs 32.5a to d)
These are a group of neural tube defects. Protrusion
of brain tissue through a bony defect in the skull is
termed as encephalocele. When only meningeal tissue
or meninges plus glial tissue protrude through the
defect, it is termed cranial meningocele.
Occipital encephaloceles are the most common type
(60-80%). Other less common sites are parietal,
frontonasal, intranasal, and nasopharyngeal regions.
These is associated hydrocephalus in about half of cases.
These defects are more common in girls. Other NTDs,
cleft lip/palate, absent corpus callosum, Dandy-Walker
malformation occur as associated features.
Amniotic band syndrome, cryptophthalmus syndrome, Walker-Warburg syndrome, frontonasal dysplasia, Meckel syndrome (AR), and Warfarin syndrome
are often associated with occipital encephaloceles.
Frontonasal encephaloceles must be differentiated
from other cystic lesions occurring at the same region.
These include, nasal gliomas, dermoids and teratomas.
Because frontonasal encephaloceles communicate with
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Congenital Malformations
213
Hypertrichosis
Dimples
Acrochordons/pseudo
tails, true tails
Lipomas
Hemangiomas
Aplasia cutis or scar
Dermoid cyst or sinus
Telangiectasia
Capillary malformation
Hyperpigmentation
Melanocystic nevi
Teratomas
Meningoceles
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Congenital Malformations
215
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Table 32.10: Syndrome associated with hydrocephalus
Hydrolethalus
Osteopetrosis: autosomal recessive lethal
Triploidy syndrome
Walker-Warburg syndrome
X-linked hydrocephalus spectrum
arachnoid villi. The term non-communicating hydrocephaly is used when the obstructive site is within the
ventricular system. When the obstruction occurs distal
to the fourth ventricle foramina, i.e. in the cisterns or
cerebral subarachnoid space, the term communicating
hydrocephalus is used. Causes of communicating
hydrocephalus include obliteration of superior sagittal
sinus, absence of arachnoid granuloma, subarachnoid
hemorrhage, etc. Hydrocephalus can rarely be caused
by excessive production of CSF due to choroid plexus
papillomas.
Congenital hydrocephalus may be evident at birth
or may develop soon after. The diagnosis is almost
certain at birth if the head circumference exceeds 97th
centile. In many cases head circumference may be
normal at birth, but head grows excessively in few days.
This fact emphasizes the importance of routinely
measuring head circumference at birth. Apart from
increased head circumference, other features seen are
large, bulging anterior fontanel open posterior fontanel,
widely separated cranial sutures, and dilated scalp veins.
In some cases setting sun sign is observed due to
pressure exerted by suprapineal recess of third ventricle
on the mesencephalic tectum, causing impairment of
ventricle gaze centers (Table 32.10).
Congenital Malformations
217
Fig. 32.12: Congenital scalp defect may be isolated or associated with syndromes like trisomy 13
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Fig. 32.13c: Trigonocephaly-Deletion 9 p syndrome. Craniostenosis involving metopic sutures lead to trigonocephaly.
This was a case of 9 p minus syndrome. It can also be seen
in 11q minus and 13q minus syndromes
Congenital Malformations
219
Macrencephaly
The term macrencephaly denotes large brain.
Macrocephaly is the term used to denote large head,
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Congenital Malformations
Type I: In this type, the medulla is displaced caudally
into the spinal canal, and the inferior pole of the
cerebellar hemisphere is herniated through the foramen
magnum.
Type II: Any feature of type I plus displacement of
medulla, cerebellum and either part or whole fourth
ventricle in the spinal canal. It is usually associated with
non communicating hydrocephalus and lumbosacral
spina bifida.
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Median Cleft Lip (Fig. 32.18)
A quadrangular or triangular median defect of upper
lip possibly extending posteriorly to the nose. There is
a close relationship between development of the
midline facial structures and the differentiation process
of forebrain. Therefore, cerebral anomalies like
holoprosencephaly are commonly often with defect.
Cleft Lip and Palate (Fig. 32.18)
Diastrophic dysplasia
Stickler syndrome
Spondyloepiphyseal dysplasia
Beckwith-Wiedemann syndrome
Myotonic dystrophy
Camptomelic syndrome
Trisomy 11q +
Fetal alcohol syndrome
Trimethadione syndrome
Congenital Malformations
223
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Meckel syndrome
ABS syndrome
Multiple pterygium syndrome
Klippel-Feil syndrome
Chromosomal
Roberts syndrome
Trisomy 13 and others
Chondrodysplasia punctata
Isolated cleft palate
Risk to sibs and offspring of a single case
Cleft lip and palate
Risk to sibs or offspring of a unilateral case
Risk to sibs or offspring of a bilateral case
2%
4%
5.5%
XL
OPD syndrome
OFD syndrome
Others
Robin sequence
de Lange syndrome
Congenital Malformations
225
Eye Anomalies
Cryptophthalmos/Anophthalmos /Microphthalmos
(Figs 32.20a to h)
Cryptophthalmos is a condition that occurs when the
lid folds fails to develop. The skin over the globe passes
continuously from the forehead to the cheek.
Anophthalmos is the absence of an eye. It is a rare
isolated ocular abnormality caused by failure of
formation of optic vesicle during embryonic period.
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Congenital Malformations
227
Genetic
- Dominant
- Recessive
- X-linked recessive
Congenital viral infection
TORCH
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External Ear Malformations (Figs 32.23a to d)
The external and middle ears are derived from first and
second bronchial arches, and grooves during first half
of gestation and continue to grow till puberty.
Malformed external and middle ears may be associated
with serious renal anomalies, mandibulofacial dysostosis,
hemifacial microsomia, and other craniofacial
malformations. Other associations include abnormalities
of facial nerve, inner ear malformation and hearing loss
(both conductive and sensory neural). Pinna
malformation mainly include (1) Pit-like depression in
front of helix and above the tragus. It may represent
a cyst or an epidermis lined fistula. Its incidence is 8
per 1000. (2) Accessory skin tags: Incidence is 1-2 per
1000 births. They often contain a core cartilage appear
to represent accessory hillock of His, the hillocks that
normally developed in the recess of the mandibular and
hyoid arches and coalesce to form the auricle.(3) Lop
ears. This results from lack of bending of the cartilage
that forms the antihelix. (4) Microtia-includes subtle
abnormalities of the size, shape, and location of pinna.
Facial nerve may be abnormal. (5) Low set ears: This
designation is made when the helix meet the cranium
at a level below that of horizontal plane which may be
an extension of a line through both inner canthi.
Congenital Malformations
229
Cystic hygromas when occur in the lateral and posterior region of neck are often associated with chromosomal anomalies and hydrops (Trisomy 21, 18 and/Turner
syndrome). When they occur elsewhere (skin, chest,
abdomen, limbs, retroperitoneal) associated lesions, they
are not associated with chromosomal anomalies.
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An Atlas of Neonatology
examination. Nuchal lucencies are seen in achondrogenesis, Apert syndrome, EEC syndrome, Fryn
syndrome, Joubert syndrome, Multiple Pterygium
syndrome, Noonans syndrome and Smith-Lemli-Opitz
syndrome. Nuchal cystic hygroma can be diagnosed in
the first trimester of pregnancy and some of these
improve. When they are associated with septa or
hydrops, resolution is unlikely.
Nuchal lucencies often resolve whether associated
with abnormal karyotype or not. But totally normal
outcome of the fetus cannot be predicted, as it may
be associated with several syndromes.
Most fetuses with the full XO syndrome are miscarried in the first trimester, prior to prenatal diagnosis
or have large cystic hygromata with severe lymphoedema, leading to death later in gestation. Those who
survive have regression of the cystic hygromata,
resulting in webbing of the neck.
The size of cysts varies and has internal septa giving
honeycomb appearance in US examination.
When detected, fetal karyotyping by cordocentesis
or CVB is indicated. Large cystic hygromas with septa
within, are associated with hydrops and have almost
100% mortality.
Diaphragmatic Hernia (Figs 32.25a to h)
Congenital Malformations
231
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Congenital Malformations
233
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Gastroschisis (Figs 32.28a to b)
It is a paraumbilical defect of the anterior abdominal
wall associated with evisceration of abdominal organs
and most cases are sporadic.
The defect is usually located in the right paraumbilical area, the umbilical cord is normally connected
to the abdominal wall and the herniated organs are not
covered by a membrane. In omphalocele, it is central
surrounded by a membrane on which umbilical cord
is inserted.
Beckwith Wiedemann
Conjoined twins
Imperforate anus
Trisomy 18
Ileal atresia
Meningocele
Absence of limb
Cardiac anomalies (20%).
Congenital Malformations
235
b
Figs 32.30a and b: Body stalk anomaly.Note placenta
attached directly
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Fig. 32.31d
Congenital Malformations
237
Omphalocele
LBWC
Cloacal extrophy
Site
Rt. paraumbilical
Lateral
Below umbilicus
Membrane
CVS anomalies
Other anomalies
Chromosomal anomalies
__
Rare
Rare
__
+
Common
Always (Spine, limb.
__
Variable
10-15%
Always (Spine, GU)
__
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An Atlas of Neonatology
CHARGEColobomata, Heart disease, atresia, Mental
Retardation, Genital hypoplasia, and Ear anomalies
and Deafness.
Other associated anomalies include: Rib anomalies,
vertebral abnormalities, duodenal atresia, hydrocephalus, intestinal malrotation.
Congenital Malformations
239
It is one of the commonest surgical conditions presenting in the later part of neonatal period occurring
more commonly in males. The clinical features include
persisting projectile nonbilious vomiting in a healthy
hungry baby.
Examination reveals visible gastric peristalsis and
pyloric mass. The technique of palpating the mass is
very important. The first requisite should be relaxed
baby , mother and the physician. Baby should be put
to left breast and physician should palpate the mass
with his left hand standing on the left side by using three
fingers: ring, middle and index fingers.
The index finger lifts the liver up and ring finger
pushes the coils of intestine down and middle finger
palpates the mass with a kneading movement which is
felt as the tip of nose.
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Congenital Malformations
241
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Table 32.14: Clinical features of bowel atresia
Male sib
Female sib
4.7
8.1
0.6
2.9
16.1
18.2
11.1
9.1
Congenital Malformations
243
Features
Cause
VATER
Sporadic
G-syndrome (Opitz-Frias)
? X-linked recessive
Kaufman-McKusick
Autosomal recessive
Johanson-Blizzard
Autosomal recessive
Mostly sporadic
Cat-eye syndrome
Partial trisomy 22
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Management
1. Colostomy for high anomalies.
2. Perineal anoplasty or dilation of fistula for low lesion.
If the level is not known, colostomy is preferable to
blind exploration of the perineum.
Congenital Malformations
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Assignment of Sex
It constitutes a medical emergency in the labor room.
This has to be made with meticulous care and with prior
knowledge of karyotypic sex, gonadal sex, hormonal
milieu to which the fetus was exposed in utero, and
postability of surgical correction. One such initial
approach is given below:
Congenital Malformations
247
MISCELLANEOUS ANOMALIES OF
EXTERNAL GENITALIA (Figs 32.44 a and b)
Some of the rare congenital malformations like accessory testis and bifid scrotum are shown in the pictures.
248
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Congenital Malformations
249
250
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(c)
(d)
Figs 32.47c and d: Infantile polycystic kidney disease
antenatal scan
Congenital Malformations
251
252
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Solid
Hydronephrosis
Multicystic dysplastic kidney
Adrenal hemorrhage
Pancreatic cyst, duplication
Choledochal cyst
Hydrometrocolpos
Ovarian cyst
Mesenteric / omental cyst
Intestinal duplication
Neuroblastoma
Teratoma
Mesoblastic nephroma
Wilms tumor
Hepatoblastoma
Hemangioma (liver)
Hamartoma (liver penc)
Infantile polycystic kidney
Congenital Malformations
(b)
(c)
(d)
Figs 32.48b to d: Antenatal scan hydronephrosis. Stomach
(s), kidney (k), pelvis (p), calyces(c), right kidney (rk)
253
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Hypertension is rarely observed unlike in older
children. Most of these tumors are sporadic with only
1% being familial.
Neuroblastoma (Fig. 32.50)
Congenital Malformations
255
Uncommon
Carpenter syndrome
Blooms syndrome
Ellis-van Creveld syndrome
Goltz syndrome
Meckel-Gruber syndrome
Conradi-Hnermann syndrome
Trisomy 13
OFD syndrome
Short rib polydactyly syndrome Rubinstein-Taybi syndrome
Polysyndactyly syndrome
SLO syndrome
Partial trisomy 10q syndrome
Trisomy 4 p syndrome
Laurence-Moon-Biedl syndrome
KTW syndrome
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Anomalies associated
CHD
Ectodermal dysplasia
Orodigital anomalies
Oculodigital dysplasia
Skeletal disorders
Congenital Malformations
257
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deformation due to uterine constraints in oligohydramnios or may be a part of various sequences and
syndromes like meningomyelocele, Pena-Shokeir
syndrome, arthrogryposis multiplexa congenita (Table
32.20).
Incidence
1. One case per 1000 live births.
2. More common in males (2:1 is the male: female
ratio).
3. 50% of cases will have bilateral involvement.
Risk for next sibling is 3%
Congenital Malformations
259
Fig. 32.57a: Distal arthrogryposis distal congenital contractures clenched hands with medial; overlapping of fingers
at birth
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Table 32.22: Types of albinism
Type
Other features
Inheritance
Bleeding diathesis
Neutropenia, increased infections
Ocular anomalies, spasticity and retardation
A.R.
A.R.
A.R.
X.L.R.
A.R.
A.R.
A.R.
Congenital Malformations
261
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Congenital Malformations
upto knee. Occasionally seen in upper limbs and over
genitalia as in the figure. Initially it may be slightly
pitting but later it hardens.
Lymphatic edema may be seen over lower limbs in
Turners syndrome, Noonan syndrome and in
congenital lymphangiectasis. In congenital lymphangiectasis these may be lymphangiectasis in intestine causing
protein lossing enteropathy, in renal system causing
chyluria and in lungs causing chylothorax, etc.
263
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Nonscarring
- EB simplex (AD inheritance)
- Junctional EB (AR inheritance)
Scarring
- Dominant dystrophic EB (AD inheritance)
- Recessive dystrophic EB (AR inheritance)
Congenital Malformations
anomaly or may be associated with the following
syndromes:
Ring chromosome-13
Tetrasomy-9P
Monosomy-20P
Deletion of long arm of chromosome-1
Congenital CMV infection
Cleidocranial dysostosis
Acrofacial dysostosis.
BIBLIOGRAPHY
1. American Academy of Pediatrics Committee on quality
improvement. Clinical practice guideline: Early detection
of developmental dysplasia of the nip pediatrics 2000 ;
105: 986.
2. Cancer 1981; 48: 217.
3. Frieden IJ. Aplasia cutis congenita: A clinical review and
proposal for classification. J Am Acad Dermatol 1986; 14:
646-60.
4. Golden CB, Feusner JH. Malignant abdominal masses in
children: Quick guide to evaluation and diagnosis. Pediatr
Clin N Am 2002; 49: 1369-92.
5. J Pediatr Surge 1974; 9: 391.
6. Kays DW. Surgical condition of the neonatal intestinal tract.
Clin Perinatol 1996; 23: 353-75.
7. Kulkarni ML, Mathew A. Neural tube closure. Indian
Pediatr 1996; 33: 872-74.
8. Kulkarni ML, et al. Limb body wall complexia case report
and review of literature. Perinatology 2003; 5: 91-94.
9. Kulkarni ML, Mathew Kurian. Consanguinity and its effect
on foetal growth and development. J Med Genet 1990;
27: 348-52.
265
266
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33
Genetic Syndromes
INTRODUCTION
Approximately 1% newborns have multiple anomalies
or syndrome. Only 40% of them have recognizable
syndrome and remaining need further evaluation. The
word syndrome means, running together (Greek) and
clinically indicates a constellation of malformations
thought to be pathogenetically related (Tables 33.1 to
33.6).
Table 33.1: Malformation syndromes following
autosomal recessive inheritance
Bardet-Biedl syndrome
Camptomelic dysplasia
Cerebrooculofacio-skeletal (Pena-Shokeir) syndrome (some
families)
Chondrodysplasia punctata (rhizomelic type)
Cockayne syndrome
Cohen syndrome
Cryptophthalmos (Fraser) syndrome
Dubowitz syndrome
Ellis-van Creveld syndrome
Fryns syndrome
Holoprosencephaly (some families)
Hydrolethalus syndrome
Johanson-Blizzard syndrome
Leprechaunism
Marden-Walker syndrome
Meckel syndrome
Mohr syndrome (orofaciodigital syndrome type II)
Multiple pterygium syndrome
Neu-Laxova syndrome
Popliteal pterygium syndrome (lethal)
Roberts syndrome
Seckel syndrome (bird-headed dwarfism)
Smith-Lemli-Opitz syndrome
Werner syndrome
FURTHER READING
1. The London Dysmorphology Database.
2. Birth Defects Information Services.
3. POSSUMAn Illustrated Database with Clinical
Photographs on Videodisk.
Mouth
Cleft lip/palate
Teeth abnormalities
Eyes
Genitalia
Micropenis
Coloboma
Small/absent eyes
Cataract
Digits
Syn/polydactyly
Arachnodactyly
Brachydactyly
Skin
White patch
Pigmented patch
Limbs
Absence
Webbing
Dwarf
Ears
Deafness
Malformed
Preauricular tag
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CHROMOSOMAL ABNORMALITY
Trisomy 21 (Downs syndrome) (Figs 33.1a1-9)
It is the commonest chromosomal disorder occurring
once in 700 births, characterized mainly by mental
retardation and characteristic facial and other abnormalities. Characteristic facial features viz. microbrachycephaly, upslanting palpebral fissures, small malformed
ears, lax skin at neck, alopecia, small hands and fingers,
clinodactyly of little fingers, simian crease, wide gap
between first and second toes and plantar crease
between first and second toes, cardiac defect in 40%
(endocardial cushion defects), relatively small penis in
boys and bulbous vulva in females, cataract, duodenal
atresia and anal atresia, hyperbilirubinemia, transient
leukemoid reaction and leukemia are some of the
features in newborns (Tables 33.7 to 33.9).
Identification of Downs syndrome in neonatal
period is rather difficult but following features help in
recognizing the syndrome: 1) hypotonia 2) poor Moros
reflex 3) hyperflexibility of joints 4) excess skin over
back of neck 5) flat facial profile 6) slanted palpebral
Fig. 33.1a(3): Downs syndrome. Downs syndrome in newborn brachymicrocephaly, flat face, upslant eyes, protruding
tongue, thin sparse hair
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Table 33.7: Risk figures in Downs syndrome
Risk
1%
Double maternal
age risk
Mother is a 14/21 translocation carrier
10%
Father is 14/21 translocation carrier
2%
One parent a 21/21 translocation carrier 100%
Table 33.8: Surveillance for early detection
of problems in Downs syndrome children
At birth
Within
first year
Every year
Risk of recurrence
Carrier mother
Carrier father
14q;21q
21q;22q
21q;21q
15%
15%
100%
5%
5%
100%
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Fig. 33.1c (6): Edwards syndrome. Small chin, low set ears,
short palpebral fissure, short-sternum overlapping fingers.
Other features include cardia, renal, cryptorchidism and
severe MR
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Locus
Genetic lesion
Phenotype
WAGR
11p13
30%
Denys-Drash
11p13
90%
Fraser
11p13
BeckwithWiedemann
11p15
5%
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Fig. 33.1f: Cat cry syndrome. Mental retardation, cats like cry evident in infancy disappears in older child.
Note round flat face, hypertelorism
GROWTH RESTRICTION
Brachmann-de Lange Syndrome (Fig. 33.2a)
The characteristic features of this syndrome include
mental retardation, low birth weight, microcephaly,
short stature, generalized hirsutism, resulting in
synophrys, microphthalmia, a hairy forehead, hairy
ears, marked hair whorls on posterior trunk and arm
and micrognathia. The nose is short, nostrils anteverted
and flares, philtrum is long and upper lip is thin with
a midline breach. Feeding difficulties, irritability, a deep
horse cry and increased tone in limbs are early
problems. Upper limb defects are common and vary
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Fig. 33.2c(2): Johnson-Blizzard syndrome. Note mildmicrocephaly, hypoplastic alae nasi, scalp defect, sparse hair,
frontal upsweep. Other features include hypothyroidism
pancreatic insufficiency and deafness, inherited as AR trait
period. Sparse eyelashes, dental anomalies, hypotrichosis, skin atrophy, short stature and occasional
congenital heart disease are other features.
Poor ossification of skull with the wormian bones,
large fontanelle, thin ribs, long bones and metaphyseal
widening may be seen in neonatal period. Neonatal
teeth may be seen. Small penis, cryptorchidism are
other features. Inheritance is uncertain.
Smith-Lemli-Optiz (SLO) Syndrome Type I
(Figs 33.2e1-5)
Facial features include microcephaly, bitemporal
narrowing with ptosis, anteverted nostril, a broad nasal
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Fig. 33.2e(5): Smith-Lemli-Optiz syndrome. Note microcephaly, ptosis, beaky nose, clenched hand, undescended
testis and mild talipes, longish philtrum. Inheritance is
autosomal recessive
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Noonan Syndrome
It is also called Turner like syndrome. The incidence has
been estimated to be between 1 in 1000 and 1 in 2500
live birth. It is characterized by short stature, short neck
lymphedema of neck and feet, pulmonary stenosis,
ASD, micropenis, cryptorchidism, hemivertebra. A
peculiar chest deformity with pectus carinatum
superiorly and pectus excavatum inferiorly is present.
It has to be differentiated from intrauterine exposure
to primidone, fetal alcohol syndrome, Aarskog
syndrome, cardiofacio-cutaneous syndrome, Williams
syndrome, and Costello syndrome. Transmission is
sporadic in majority of cases and occasionally autosomal
dominant.
Seckels Syndrome (Fig. 33.2g)
It is an AR syndrome characterized by growth
deficiency of prenatal onset, microcephaly, receding
FETAL OVERGROWTH
Beckwith-Wiedemann Syndrome (Fig. 33.3a)
It is an autosomal dominant metabolic dysplasia
syndrome with variable degree of expression. The main
features are congenital and/or postnatal gigantism,
muscular macroglossia, visceromegaly. Peculiar facies
(mild exophthalmos with relatively small head,
protruding occiput and telangiectatic nevi over the
upper half), and grooved ears. Sometimes omphalocele
or simple umbilical hernia may be observed.
Hemihypertrophy of the body may also be seen in
some. These infants develop problems like
hypoglycemia, polycythemia, feeding and respiratory
problems in the immediate post-natal period. They are
more prone to develop neoplastic tumors later in life.
Development is normal if hypoglycemia is properly
managed in the neonatal period. Differential diagnosis
include IDM, hypothyroidism.
Ref: Wiedemann HR. In Wiedemann HR Kunzej (eds) Clinical
Syndromes, 3rd edn Mosby-Wolfe.
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exophthalmos and syndactyly with subcutaneous
oedema.
Prenatal growth deficiency, absence of corpus
callosum, hypoplastic cerebrum and cerebellum, sloping
forehead, ocular hypertelorism, absent eyelids, flat
nose, micrognathia, large ears and short neck, short
limbs, flexion contractures of limbs are other important
features.
Meckel-Gruber Syndrome (Figs 33.4g1-6)
Fig. 33.4g(5): Meckel-Gruber syndrome. Occipital encephalocele with midline cleft, note polydactyly in right hand (pre
axial) other features include cystic kidneys, eye defects,
talipes and inherited as autosomal recessive
288
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290
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292
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294
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Table 33.11: Clinical features of various types of OFDs
OFD-Clinical Features
II
III
IV
VI
VII
VIII
+
+
+
+
+
+
=
=
+
+
+
+
+
+
=
=
=
=
+
+
+
+
Hypertelorism
Medial cleft lip
Facial asymmetry
Nose anomalies
Micrognathia
Hand
Clinodactyly
Brachydactyly
Syndactyly
Polydactyly - Preaxial
- Postaxial
Foot polydactyly - Pre
- Post
Brain
Cerebral anomalies
Cerebellar anomalies
Porencephaly
Hypothalamic hematoma
Mental retardation
Minor feature- Nystagmus
Skeletal changes
Renal anomalies
Mode of inheritance
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
+
M
+
+
X-D
AR
S
+
+
AR
M
+
+
AR
AR
+
+
+
S
AR
AD/XD
+
+
XR
Oral
Face
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Fig. 33.5h(6): Frontonasal dysplasia. Shown in this photograph are the mother and elder sib of the newborn shown
in previous picture (Figs 33.5h1-5)
Fig. 33.5i(1): Waardenburgs syndrome. Note white forelock of hair. Baby had total aganglionosis of intestine
298
An Atlas of Neonatology
greying of hair, true hypertelorism, cleft lip and palate,
Hirschsprungs disease and congenital heart disease, i.e.
VSD. Type II has no dystropia canthorum and other
features are similar and results from PAX 3 gene
mutation on chromosome 3q. Type III is also AD
disorder due to PAX 3 gene mutation. The features are
similar to type I but upper limb deformation of variable
degrees distinguish this from others. Facial abnormalities
are almost similar to Type I but Cupid bow shape of
upper lip and large nasal root and hypoplastic alae nasi
are more pronounced. Type IV is associated with
Hirschsprungs disease and may be AD or AR.
Reference: Kulkarni ML, et al. J Med Genet 1989; 26: 411-412.
Robin Sequence
Please see chapter 32.
Cataract
Please see chapter 32.
Median Cleft Face Syndrome
Please see chapter 32.
Microphthalmia/Anophthalmia
Fig. 33.5i(4): Waardenburgs syndrome. Note white forelock
and associated Ileal atresia. Long segment Hirschsprungs
disease is a common associated finding in this type of
Waardenburgs syndrome
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An Atlas of Neonatology
Fig. 33.6c(2): Stickler syndrome and parent. Father enucleated for retinal detachment. Note bilateral buphthalmos and
Pierre Robin sequence in the child
Fig. 33.6c(6): Stickler syndrome. Note flat facies with depressed nasal bridge and short nose, also seen are prominent
eyes
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Fig. 33.7a(1): Grebe syndrome. Short limbs predominantlyinvolving lower limbs, severity of shortening progress from
proximal to distal limb resulting in grape like fingers and
toes, trunk and head normal, polydactyly may be a feature
syndromes, ABS, CHARGE association, velocardiofacial syndrome, femoral hypoplasia and unusual face
syndrome, Cerebrocostomandibular syndrome
Mobeius sequence, Nager acro-facial dysostosis and
Beckwith-Wiedemann syndrome.
Ref: Kulkarni et al, Annals of Dentistry 1993; 52 (2)
LIMB ABNORMALITIES
Grebe Syndrome (Figs 33.7a1-8)
Grebe syndrome is characterized by short limbs with
progressive shortening of limbs from proximal to distal
ends with predominant involvement of lower limbs with
grape like toes. Bones of the limbs are hypoplastic and
the small bones are usually absent. Postaxial polydactyly
is common. Heterozygotes may have polydactyly,
brachydactyly, hallux valgus, and delayed bone age.
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306
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308
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310
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(1)
(2)
Fig. 33.7g: (1) Multiple pterygium syndrome. (2) Pterygia
(web) at knees and elbows short neck, hypertelorism
epicanthic, folds flat nose, TEV and foot abnormalities
SKELETAL DYSPLASIAS
Achondrogenesis Types 1 and 2 (Figs 33.8a1-4)
Both are autosomal recessive lethal disorders
characterized by large head, low nasal bridge, very short
limbs, and incomplete ossification of lower spine.
Achondrogenesis type I and II (ParentFraccaro type
and Langer-Saldino type) cannot be distinguished
clinically. Both result in stillbirth and are characterized
by severe micromelia, a relatively large head, a short
neck, a short trunk and protuberant abdomen. Both
have flat nasal bridge, and short nose with short
anteverted nostrils. Radiologically, ossification of skull,
spine and pelvis is more deficient in type I than in type
II. The long bones are more severly micromelic in type
I and there are spiky metaphyseal spurs in both but
more so in type I. Type I has been subdivided into
two types: A (Houston- Harris type) and B (ParentFraccaro type). Type IA cases have multiple rib fractures
and almost complete lack of ossification of spine.
Encephalocele may occur occasionally. The gene
312
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314
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316
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(2)
Fig. 33.8f(1): Achondroplasia. Large head with frontal bossing
mild rhizomelia in newborn period abnormal acetabular roof
in newborn period which is an important finding in newborn
period
(3)
Figs 33.8e(2-3): 2. Jeunes thoracic dystrophy. 3.
Note: bell-shaped thorax and hypoplastic lungs
Fig. 33.8f(2): Achondroplasia. An older patient with achondroplasia showing decreasing interpeduncular distance from
thoracic to lumbar spine, short round iliac crest, narrow sacrosciatic notches, horizontal acetabular roof, oval translucency
of proximal femora, note also widened metaphysis of long
bone, AD disorder wherein 80% are new mutations
318
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Ellis-van Creveld Syndrome
(chondroectodermal dysplasia) (Figs 33.8h1-5)
An AR disorder characterized by short distal extremities,
polydactyly and hypoplastic nails. Neonatal teeth,
alveolar ridges, atrial septal defects are often present.
It closely fesembles Jeune thoracic dystrophy; but it can
be differentiated from by the presence of cardiac rather
than renal defects which is seen in the latter condition.
(1)
(2)
Figs 33.8h(1-2). Ellis-van Creveld syndrome (1). Note short
distal extremities and post-axial polydactyly. Symmetric postaxial polydactyly in all the limbs is differentiating feature from
Jeune thoracic dystrophy (2)
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A rare autosomal recessive lethal rhizomelic chondrodysplasia which is characterized by distinctive fibrosis of
growth plate cartilage. The clinical characters include
relatively large head with wide anterior fontanelle,
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Fig. 33.8n: Fibrochondrogenesis. Note relatively large head, short neck and rhizomelic short limbs.
X-rays show dumb-bell shaped long bones, irregular acetabulum, ovoid short fibula
CRANIOSYNOSTOSIS
Craniosynostosis is an abnormal shape or dimension of
skull caused by premature fusion of one or more skull
sutures. It includes scaphocephaly, brachycephaly,
oxycephaly, plagiocephaly, trigonocephaly, turricephaly,
and cloverleaf skull. Craniosynostosis may be an isolated
entity or may be part of other syndromes such as
chromosomal (mainly structural anomalies), metabolic
(idiopathic, hypercalcemia, rickets, hypophosphatasia,
hyperthyroidism, MPS, mucolipidosis), inherited
Mendelian disorder (Apert, Bellar Gerold, Carpenter,
Crouzon, Escobar, Bixler, Lowry, Pfeiffer), teratogenic
(e.g. aminopterin, infection). See also chapter 32.
Aperts Syndrome (Acrocephalosyndactyly)
(Figs 33.9a1-2)
324
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This condition is caused by a mutation of the Fibrillin1 gene (FBN-1) on chromosome 15 and is inherited
as an AD disorder. This disorder is characterized by
dolichostenomelia (long tapering limbs), arachnodactyly, pectus deformities of chest, mitral and aortic
regurgitations, upward ectopia lentis, myopia, high
palate, and mild joint laxity. Other connective tissue
features include scoliosis,and skin striae. A dilated aortic
root may be demonstrated even in some neonates and
aneurysm and dissection of aorta is an important cause
for mortality. Dural ectasia is demonstrated in some
cases. Long fingers, thumb sign (flexed and abducted
thumb crosses palm) are other features.
A severe neonatal variety has been described where
in marked Marfanoid features are associated with severe
cardiac valve insufficiency, aortic root dilatation and
early death. Many infants have congenital contractures
of the large joints, hypermobility of the fingers,
micrognathia and anterior chest deformity. The defect
is due to FBN-1 gene and can occur as AD or sporadic
case.
Ehlers-Danlos Syndrome (Fig. 33.10e)
Ehlers-Danlos syndrome is a heterogenous group of
connective tissue disorder characterised by abnormalities of skin, joints and other connective tissues due
to defective synthesis of fibrillar collagen in the
connective tissue. Collagen forms more than half of the
white fibres in the connective tissue including skin,
ligaments, tendons, blood vessels, viscera, bones and
Fig. 33.10e: Ehlers-Danlos syndrome. Note hyperextensible skin. Note long fingers
328
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Table 33.12: Classification, clinical features, mode of inheritance and biochemical defects in Ehlers-Danlos syndrome
Old
Classification
Revised
I Gravis
Classical
Soft, velvety
Large++
Hyperextensible+++ Small+++
Scoliosis+
Bruising++
Abnormal
scars
II Mitis
Classical
Soft, velvety
Hyperextensible+
Bruising+
Abnormal scars++
Large++
Small+++
Scoliosis++
III Familial
Hypermobility
Hypermobile
Soft
Hyperextensible+
Large+++
Small++
IV Arterial
Vascular
Thin transparent
Bruising
Large +
Small+
CQL3A1
Mutations
V X-linked
Removed to
other
category
Soft, velvety
Hyperextensible+
Bruising+
Abnormal scars
Large++
Small++
Intra-muscular
hemorrhage
XLR
Not known
VI Ocular
Large++
Small++
Scoliosis++
Dislocation+
Ocular fragility
Vascular fragility
Myopia
Hernia
Brittle cornea
Blue sclera
AR
Lysyl
hydroxylase
deficiency
VII A/B
Arthrochalasis
multiplex
Congenita
mutations
Arthrochalasis
Soft, velvety
Hyperextensible+
Bruising+
Large+++
Small+++
Dislocation
+++
Short stature
AD
COL1A1/
COL1A2
VII C Dermatospraxis
Dermatospraxis
Soft, velvety
Bruising++
Fragility+++
Hernia
Blue sclera
Vascular fragility
Osteopenia
AR
pNPI
Mutations
VIII
Periodontal
Removed to
other
category
Soft, velvety
Hyperextensible++
Bruising++
Abnormal scars++
Large ++
Small++
Periodontitis juvenalis
AD
Not known
IX
X linked cutis
laxa
Removed
from EDS
phenotypes
Soft
Lax
Hyperextensible
Limited
pronation/
supination
Bladder diverticula
Broad clavicles
Occipital horns
XLR
ATP7A
Mutations
X
Fibronectin
defect
Removed to
other
category
Hyperextensible++
Bruising++
Abnormal scars++
Large+
Small++
Petechiae
Striae distensae
AR
Defect in
fibronectin
Skin
Clinical features
Joint
Other connective tissue
hypermobility
Inheritance
Molecular
defect
Premature rupture of
fetal membrane,
varicose veins, hernia,
Abnormal valves
AD
COL5A1,
COL5A2,
COL1A1
Mutations
Varicose veins,
Abnormal valves
AD
COL5A1,
COL5A2,
Mutations
COL1A1
Null alleles
AD
Not known
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Harlequin Syndrome
Please see chapter 32.
Sturge-Weber Syndrome
Consists of constellation of symptoms and signs including
a facial nevus (Portwine stain), seizures, hemiparesis,
intracranial calcification and in many cases mental
retardation. The incidence is one in 50,000 births.
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1. Six or more caf-au-lait spots over 5mm in prepubertal individuals and over 15mm in post pubertal
individuals. Caf-au-lait spots are present in 100%
cases of NF. They are present at birth but increase
in number and depth of pigmentation with age.
2. Axillary or inguinal freckling
3. Two or more iris Lisch nodules: Hamartomas
located within the iris and seen by slit lamp. They
are present in 75% cases of NF-I but not in NF-II.
They start appearing after 3 years and increase in
number and size with advancing age.
4. Two or more neurofibromas or one plexiform
neurofibroma
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Neuroblastoma
Please see chapter 32.
Teratoma
Please see chapter 32.
TERATOGENS
Cystic Hygroma
CMV
Please see chapter 20.
Toxoplasmosis
Please see chapter 20.
Syphilis
Please see chapter 20.
MISCELLANEOUS SYNDROMES
Jarcho Levin Syndrome (Figs 33.12a1-3)
It is an autosomal recessive syndrome characterized by
short neck, costovertebral dysostosis, crab like flaring
of chest or absence of ribs, protuberant abdomen and
abnormal thorax. These infants die early due to
pulmonary complications due to small thorax.
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338
An Atlas of Neonatology
Abnormalities include;
Limb defects: Multiple, asymmetric, constriction rings
of limbs and digits, amputation of limb or digits.
Pseudosyndactyly, abnormal dermal ridge pattern,
simian crease and club feet.
Craniofacial defects: Encephalocele, multiple and
asymmetrical anencephaly, facial clefting lip/palate
severe nasal deformities, asymmetrical microphthalmia,
incomplete or absent cranial calcification.
Visceral defects: Gastroschisis, omphalocele
Fig. 33.13a(13): Amniotic band sequence. Occipital
encephalocele due to amniotic bands
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342
An Atlas of Neonatology
344
An Atlas of Neonatology
Table 33.13: Summary of effects of oligohydramnios
346
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348
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BIBLIOGRAPHY
APPENDICES
APPENDIX-1
Salient Features of Selected Neonatal Syndromes
Growth retardation
Microbrachycephaly
Micrognathia
Bushy eyebrows, synophrys
Micromelia, syndactyly, oligodactyly
Cardiac defects
Genital defect
Russell-Silver Syndrome
Seckel Syndrome
IUGR
Microcephaly
Micrognathia
Clenched hands syndactyly II III
Valgus feet, polydactyly
Micropenis
Genital abnormality
Renal abnormality
Beckwith-Wiedemann Syndrome
Omphalocele
Macroglossia
Organ hypertrophy especially kidneys
Macrosomia
Caudal regression syndrome
Congenital heart diseases
Noonan Syndrome
Short stature
Short neck
Lymphedema neck, feet
Pulmonary stenosis ASD
Micropenis
Cryptorchidism
Hemi vertebrae
Johnson-Blizzard Syndrome
Hallermann-Streiff Syndrome
Microphthalmia
Small pinched nose
Hypotrichosis
Neonatal teeth
Cataracts
Robinow Syndrome
Flat face
Frontal bossing
Prominent, down slant eyes
Small upturned nose
Triangular mouth
Micrognathia alveolar ridge
Short forearm
Small hands
Hypogenitalism
Wide anterior fontanel
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An Atlas of Neonatology
Cryptophthalmos
Ear and nose anomaly
Syndactyly
Genitourinary abnormality
Laryngeal stenosis
Waardenburg Syndrome
White forelock
Dystopia canthorum
Deafness
Hirschsprungs disease
Goldenhar Syndrome
Hemifacial atrophy
Ear anomaly with tags
Hypoplastic mandible
Macrostomia
Vertebral anomalies
Oro-Facial-Digital Syndrome
Facial clefts
Broad nasal bridge
Bifid nasal bridge
Bifid nasal tip
Micrognathia
Multiple clefts of tongue
Polysyndactyly, bifid hallux
Clinodactyly of fifth finger
Micrognathia
Glossoptosis
U-shaped cleft palate
Micrognathia
Antimongoloid eye slant
Notch in lower eyelid
Abnormal auricles, skin tags
Cleft palate
Hypertelorism
Median cleft lip
Split nose
Blepharophimosis Syndrome
Ptosis
Encephalocele
Polydactyly
Cystic kidneys
Microcephaly
Microphthalmia
Cleft palate
Cryptorchidism
Heart defects
Various brain abnormalities
Neu-Laxova Syndrome
Microcephaly
Hypertelorism
Protruding eyes
Absent lids
Cataract
Microphthalmia
Syndactyly
Ichthyosis
Various brain abnormalities
Hydrocephalus
Agyria
Retinal dysplasia
With or without encephalocele
X-linked Hydrocephalus
Males
Aqueductal stenosis
Adducted thumbs flexed over palms
Zellweger Syndrome
Hypotonia
High forehead
Flat face
Hepatorenomegaly
Appendices
Menkes Kinky Hair Disease
Myotonia
Blepharophimosis
Joint movement limitation
353
Radial dysplasia
Ulnar and humeral abnormality
ASD /VSD
Larsen Syndrome
Hyperextension of knees
Dislocated elbow, knee, hip
Club feet
Depressed bridge of nose
Cleft palate
Hypertelorism
COFS Syndrome
Neurogenic arthrogryposis
Microcephaly
Micrognathia
Microphthalmia
Cataract
Blepharophimosis
Large ears
Rocker bottom feet
Roberts Syndrome
SYNDROMES WITH LIMB ANOMALIES
EEC Syndrome
TAR Syndrome
Sloping forehead
Small nose
Long philtrum
Pursed lips
Contractures at joints
Ulnar deviation of hands
Flexion contractures of fingers
Kyphoscoliosis
Phocomelia
Grebe Syndrome
Popliteal web
Cleft palate
Lower lip pits
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Prominent forehead
Hypertelorism
Antimongoloid slant
Flat nasal bridge
Micrognathia
Cleft palate
Clenched fingers
Low set and malformed ears
Campomelic Dysplasia
Stickler Syndrome
Pierre-Robin sequence
Flat face
Buphthalmos
Myopia
Arachnodactyly
Hypotonia.
Bulbous nose
Loose skin
Multiple exostosis.
Trichorhinophalangeal Syndrome
Bulbous nose
Sparse hair
Epiphyseal coning
Short metacarpals and metatarsals (IV and V).
Chondrodysplasia Punctata
Rhizomelic shortening
Stippled calcification of epiphysis
Brachycephaly
Hypertelorism
Cataract.
Cleidocranial Dysostosis
Big head
Wide fontanel and sutures
Short or absent clavicle
Hypoplastic iliac bones.
Diastrophic Dysplasia
Achondrogenesis I and II
Type I
Lethal skeletal dysplasia
Large and poorly ossified skull
Micrognathia, severe shortening of limbs
Narrow chest, short ribs
Poorly ossified iliac bones and spine.
Type II
Relatively normal skull ossification
More variable shortening of limbs
Complete absence of spine, ossification differentiate it from
type one
Achondroplasia (Hetero)
Appendices
Polydactyly
Renal cysts.
Metatrophic Dysplasia
Big head
Short limbs with relatively big hands/feet
Short femora
Metaphyseal flaring
Narrow long thorax
Platyspondyly
Kyphoscoliosis
Sacral tail (characteristic if present).
Severe micromelia
Very short ribs
Poorly mineralized vertebrae
Polydactyly
Narrow thorax
Heart defects
Imperforate anus
Intestinal atresia
Hypoplastic/polycystic kidneys
Ambiguous genitalia.
Thanatophoric Dysplasia
Fibrochondrogenesis
355
Acrobrachycephaly
Flat face
Hypertelorism
Syndactyly (osseous and cutaneous) of II, III, IV fingers
Broad hallux and thumb.
Carpenter Syndrome
Brachyacrocephaly
Depressed nasal bridge
Micrognathia
Clinodactyly, syn/polydactyly
Heart defects
Omphalocele
Hypogonadism.
MISCELLANEOUS SYNDROMES
Jarcho-Levin Syndrome
Short neck
Costovertebral dysostosis
Crab like flaring or absence of ribs, thoracic abnormality
Protuberant abnormality
Occasional genital and renal abnormalities.
Leprechaunism
Milroys Syndrome
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An Atlas of Neonatology
Incontinentia Pigmenti
Hypomelanosis of Ito
CHARGE Association
Neurocutaneous Melanosis
Holoprosencephaly Sequence
Sturge-Weber Syndrome
Lipodystrophy
Lipoatrophy
Phallic hypertrophy
Hepatomegaly
Hyperlipemia
Diabetes mellitus.
Encephalocele
Asymmetric anencephaly
Micrognathia
Facial cleft
Constriction and amputation of limbs
Limb body wall complex
Gastroschisis
Syndactyly
Clenched hands
Fixed extremities
Arms flexed
Hyperextended knees
Clubbed feet
Clenched hands
Alobar
Lobar
Semilobar
Arthrogryposis
Choanal atresia
Heart defects
Atresia Ani/esophagus
Retarded growth
Genital abnormality
Ear anomaly
Klippel-Feil Sequence
Short neck
Fusion of multiple cervical vertebrae
Low set ears
Appendices
Pena-Shokeir Syndrome
357
Hypothyroid Sequence
Pentalogy of Cantrell
Five components include
Ectopia cordis
Omphalocele
Disruption of distal sternum
Anterior diaphragm
Diaphragmatic pericardium
Prune-belly Syndrome
Prune belly
Distended bladder, ureter
Megalourethra
Cryptorchidism
Conjoined Twins
Absent kidney
Narrow chest
Single umbilical artery
Sirenomelia
Flat squashed face
Sirenomelia
Oligohydramnios
Bladder distention abdominal distention hydroureter
renal dysplasia
Persistent urachus, colon malrotation, iliac vessel
compression, lower limb deficiency, cryptorchidism
VATER Association
Craniopagus
Thoracopagus
Ischiopagus
Omphalopagus
Partial heteropagus
Oligohydramnios Sequences
Renal agenesis
Amnion nodosum
Pulmonary hypoplasia and death
Fetal compression Potters face, breach, abnormal position
of hands and feet.
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An Atlas of Neonatology
TERATOGENS
Thalidomide
Phocomelia
Heart defect
Microtia
Duodenal atresia
Spinal abnormalities
Cytomegalovirus
Intracranial calcification
Microcephaly
Brain atrophy
Hydrocephalus
Cardiomegaly
IUGR
Hepatosplenomegaly
Thrombocytopenia
Rubella Syndrome
Microcephaly
Cataract
PDA, pulmonary artery branch stenosis
Deafness
Hepatosplenomegaly
IUGR
Syphilis
Osteochondritis
Hepatosplenomegaly
Skin rashes
Mucocutaneous lesions
Toxoplasmosis
Cataract
Microcephaly
Intracranial calcification
Ventriculomegaly
Hepatosplenomegaly
IUGR
Varicella Syndrome
CHROMOSOMAL ABNORMALITIES
Trisomy 13
Microcephaly
Holoprosencephaly
Midline cleft
Hypotelorism
Cyclopia
Camptodactyly
Polydactyly
Renal anomalies
Cardiac defects
Trisomy 18
Micrognathia
Microphthalmia
Hypertelorism
Clenched hands (with overlapping index finger)
Rocker bottom foot
CHD
Short sternum
Renal/GIT defects
IUGR
Trisomy 21
Microbrachycephaly
Upslant of eyes
Nuchal thickening
Small ears
Clinodactyly
Micropenis
CHD-endocardial cushion defects
Duodenal, anal atresia
Turner Syndrome
FURTHER READING
1. Benacerraf BR (ed). Ultrasound of Fetal Syndrome, ed I
1998, Churchill Livingstone, New York.
2. Jones KL (ed) Smiths Recognizable Patterns of Human
Malformation. 5th edn 1997, WB Saunders Philadelphia.
3. Remero R, Pilu G, Jeanty P, Ghidini A, Hobbing JC (eds).
Prenatal Diagnosis of Congenital Anomalies. Appleton
and Lange, California.
4. Rumack CM, Wilson SR Charboneau JW (Eds). Diagnostic
Ultrasound 2nd edition 1998, Mosby, St. Louis.
Appendices
359
APPENDIX-2
General Information About Medical Genetics in India
Table 1: Genetic centers in India
Center for Genetic Disorders, Department of Human Genetics, Guru Nanak Dev University Amritsar
Department of Human Genetics and Anatomy, St. Johns Medical College
Bangalore
Department of Pediatrics and Hematology, Postgraduate Institute of Medical Education and Research
Chandigarh
Department of Genetics, Institute of Child Health and Institute of Obstetrics Gynecology
Chennai
Department of Genetics, Ramakrishna Mission Hospital
Kolkata
Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences
Lucknow
Department of Pediatrics, KEM Hospital
Mumbai
ICMR Immunohaematology Center, KEM Hospital
Mumbai
ICMR Genetic Research Center, Indian Council of Medical Research, Wadia Hospital for Children
Mumbai
Genetics Unit, Department of Pediatrics, All India Institute of Medical Sciences
New Delhi
Department of Genetic Medicine, Sir Ganga Ram Hospital
New Delhi
Genetics Center, Department of Pediatrics, BJ Medical College
Pune
Department of Zoology, Banaras Hindu University
Varanasi
Department of Pediatrics, JJM Medical College
Davangere
Table 2: Empiric risk of recurrence of isolated malformation
Malformation
Anencephaly/Spina bifida
Cardiac malformation
Cleft lip and cleft palate
Cleft palate alone
Pyloric stenosis
Talipes equinovarus
Dislocation of hip
Hirschsprung disease
4-5
6-8
2
0.5
2-3
3-4
3-4
0.1
Every year
Clinical examination and if necessary investigations for tracheoesophageal fistula, duodenal obstruction
and anal atresia.
Eye examination for cataract.
Chromosomal analysis
If translocation trisomy 21 is found, chromosome analysis of parents.
Thyroid stimulating hormone
Echocardiogram (within first week) clinical examination and if necessary, investigations for tracheoesophageal fistula, duodenal obstruction and anal atresia
Thyroid function tests (TSH1 T4)
Haemoglobin, serum iron
Hearing evaluation
Eye examination for squint, refraction, cataract
Haemoglobin, serum iron
Thyroid function test
Non-fasting lipids
Auditory assessment
Eye examination
Development assessment, physiotherapy and if needed speech therapy
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An Atlas of Neonatology
Table 4: Causes of perinatal deaths
Genetic
Non-genetic
Appendices
The Genetics of Neurological Disorders
Michael Baraitser
Oxford Med. Publishers
1997
Clinical Genetics
616. 42 Bar
Smiths Recognizable Pattern of Human Deformations
Smith DW
Philadelphia
WB Saunders
1988-183p.
Clinical Genetics
616. 043 3222
ISBN 07216-2338-7
Ultrasound of Fetal Syndromes
Benacerraff
Churchill Livingstone
Fetal USG
1998
616.07543 Acc No. 14072
Ultrasonography in Obs. & Gyne
Peter W. Callen
W.B. Saunders
1993
USG Obstetrics
Prenatal Diagnosis of Congenital Anomalies
Roberto Romero
Appleton and Lange
1990
USG Fetal
618.22/PRE Acc No. 1637
Pediatric Neurology Principles and Practice - 3rd edition
Swaiman KF, Vol. I and II
CV Mosby
1990
Pediatrics/Neurology
618.92/2635 Acc No. 15378
Catalog of Teratogenic Agents
TS Shepard
John Hopkins University Press
1995
Pharmacology/Teratology
616. 043 SHE
361
Acta Cytologica
Acta Oncologica
Acta Pediatrics
American Journal of Hematology
American Journal of Human Genetics
American Journal of Medical Genetics
Annals of Hematology
Blood
British Journal of Hematology
Cell
Clinical Dysmorphology
Clinical Genetics
Cytogenetics and Cell Genetics
Gene
Genetic Testing
Genomics
Human Gene Therapy
Human Genetics
Human Molecular Genetics
Journal of Medical Genetics
Lancet
Nature Genetics
Nuclear Acid Research
Prenatal Diagnosis
Science
Seminars in Perinatology
Trends in Genetics
Transfusion
Tissue Antigens
Bone marrow Transplantation
Proceeding of the National Academy of Sciences of the
United States of America
32. Trends in Biochemical Sciences
33. Genome Human
34. Reviews in Immunogenetics
Clinical Genetic Computer Resources
A. Online Mendelian inheritance in Man (OMIM)
http://www3.ncbi.nlm.nih.gov/Omim/-human genes and genetic
disorders authored and edited by Dr. Victor A. McKusick and
colleagues.
John Hopkins University. Entries include general description,
phenotype, clinical features, biochemistry, and genotype, mode
of inheritance, diagnosis, management, molecular genetics,
references, clinical synopsis, pictures, and date edited.
www3.ncbi.nlm.nih.gov/Omim/ http://www3.ncbi.nlm.nih.gov/
Omim/.
362
An Atlas of Neonatology
Appendices
APPENDIX-3
Fetal Autopsy Proforma
(ABORTIONS/STILLBIRTHS/NEONATAL DEATH WITH OR WITHOUT CONGENITAL MALFORMATIONS)
1. Name of Mother
______________________________________________________________________
2. Age of Mother
______________________________________________________________________
3. Name of Father
______________________________________________________________________
4. Age of Father
______________________________________________________________________
5. Present Address
______________________________________________________________________
______________________________________________________________________
______________________________________________________________________
______________________________________________________________________
Permanent Address
______________________________________________________________________
______________________________________________________________________
______________________________________________________________________
______________________________________________________________________
6. C.R. Number
______________________________________________________________________
______________________________________________________________________
______________________________________________________________________
9. LMP
______________________________________________________________________
______________________________________________________________________
______________________________________________________________________
______________________________________________________________________
______________________________________________________________________
______________________________________________________________________
______________________________________________________________________
______________________________________________________________________
Present 0/11
Single/Multiple Pregnancy
H/O Drug Intake
H/O Viral Fever
H/O Radiation
Loss of Fetal Movement (date)
Obstetric U/S Report
363
364
An Atlas of Neonatology
Past H/O
Socio-economic History
Medical History
Surgical History
INVESTIGATIONS
AMNION
Intact/Ruptured/Meconium Staining
Amniotic Fluid
Others
CHORION
1. Membrane
2. Villous
3. Weight
4. Meconium Staining
5. Others
UMBILICAL CORD
1. Length
2. Diameter
3. Normal/Abnormal
a) False Knot/True Knot/Thromeoset/Twisted/Constricted/Cystic Dilatat
b) Long/Short
c) Insertion Central/Paracentral/Marginal/Velamentous
d) Number of Vessels
e) Meconium Staining
f) Hemorrhage
PLACENTA
1. Shape
2. Infarcts
3. Meconium Staining
4. Hemorrhage
Placenta Previa/Accidental HGE (Retroplacental Clot) Subchorionic/Intervillous/Decidual)
5. Type Singleton/Twin/Placenta (Monochorionic Monoamniotic Diamniotic/Dichorionic Diamniotic)
6. Weight
7. Amniotic Bands
8. Intervillous Fibrin Deposition
Appendices
365
FETUS/EMBRYO
A. Fresh/Fixed
B. Autolysed None/Slight/Severe
General Appearance
C. Measurements
a) Length
1. CRL
2. CHL
3. Elbow Wrist Length
4. Hand Length
5. Knee Ankle Length
6. Foot Length
b) Circumference
1. H C
2. C C
3. A C
c) Cranial Distances
1. Inner canthal
2. Outer canthal
d) Nose Tip to Lip Distance
e) Bridge (Nose) Lip Distance
f) Right Ear Length
D. Weight
E. Developmental Age (Wks)
F. Sex
G. Description External Examination
a) General
Habitus - Normal /Thin/Fatty/Hydrops/Dwarf/Asymmetric/Skin-Normal/Ichthyosis/ Loose/Hyper-pigmented/Petechiae/Evidence
of Trauma/Constriction
b) Craniofacial
1. Skull Normal/Abnormal Microcephaly/Macrocephaly/Hydrocephaly/Anencephaly/Encephalocele/Cyclops/
Cebocephaly
2. Face Normal/Large/Small/Midface Hypoplasia
3. Hair Normal/Abnormal/Hypertrichosis/Low Hair Line/Eye Brows Normal/ Not developed
4. Eye Palpebral fissure/Normal/Mongoloid Slant/Antimongoloid
Distance Normal/Hypertelorism/Hypotelorism
Size Normal/Microphthalmos/Anophthalmos Epicanthal Fold
5. Ear Normal/Abnormal Small/Abnormal Shape/Position
6. Nose Bridge Normal/Depressed/Elevated
Length Normal/Short/Long
Nostril Normal/Single
7. Philtrum Prominent/Flat/Absent
8. Lips Normal/Prominent/Cleft
9. Mouth Normal/Large/Small
10. Palate Normal/Cleft/High Arched
11. Tongue Normal/Protruding/Small
12. Upper Jaw Normal/Hypoplastic
13. Lower Jaw Normal/Micrognathia/Retrognathia
14. Neck Normal/Short/Cystic Hygroma/Webbing
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An Atlas of Neonatology
c) Thorax
1. Chest Normal/Shield/Narrow/Short/Pectus Excavatum/Pectus Carinatum
2. Nipples Normal/Abnormal/Supernumerary
3. Breast Normal/Abnormal/Enlarged
4. Ribs Normal/Abnormal/Missing
5. Vertebrae Normal/Abnormal Hemivertebra/Scoliosis/Kyphosis/Spina Bifida/Bifida Total/Cervical/Thoracic/
Lumbar/Sacral/Meningocele/Myelocele/Cranioschisis
d) Upper Limb
1. Normal/Short/Amputated/Joint Dysplasia/Abnormal Position/Lobster Claw
2. Hand Normal/Short/Long
3. Fingers Normal/Long/Short/Syndactyly/Polydactyly/Amputated/Broad Thumb/Clinodactyly/Brachydactyly
4. Palmer Crease Normal/Abnormal/Simian Crease/Sydney Crease
5. Nails Normal/Hypoplastic
e) Lower Limb
1. Length - Normal/Long/Short/Amputated
2. Position Normal/Talipes Varus Valgus/Genu Varum Valgum
Recurvatum/Jt. Dysplasia Dislocation.
3. Nails Normal/Hypoplastic
4. Toe Syndactyly/Polydactyly/Amputated/Broad Toe/2nd Toe Bigger Than 1st Toe/1st & 2nd Toe Deviated.
5. Foot Normal/Short/Long/Abnormal Crease/Rocker bottom Foot
f) Abdomen
Normal/Short/Narrow
Hepatomegaly/Splenomegaly
Ascites/Prune belly/Omphalocele
Umbilicus Normal/Low Set/High Set/Hernia
g) External Genitalia
Normal Female/Normal Male/Ambiguous/Ambi. Male/Ambi. Female
Penis Normal/Short/Long
Clitoris - Normal/Short/Long
Urethra Normal Hypospadius/Epispadius/Exstrophy
Testis Normal/Undescended Location/Agenesis
h) Anus
Normal Patent/Imperforate
H. Description Internal Examination
a) Thorax
1. Thymus Normal/Enlarged/Small/Absent/Petechiae/SI ; Weight (Size = in all internal organs : Aorta, Big versel,
Pulm. Tr., IVC, SVC)
2. Heart Location Normal/Abnormal
Enlarged Rt. Side/Enlarged Lt. Side
TGV/Coarctation/Stenotic
Petechiae
Pericardial Effusion
Rt. Atrium
Rt. Ventricle
Lt. Atrium
Lt. Ventricle Normal/Hypoplastic
Pulm. Valve cusps Normal/Bicuspid/Dysplastic
Aortic valve cusps Normal Bicuspid/Dysplastic/ASD/VSD/Memb./Muscular
Tricuspid Atresia/Mitral Atresia/Endocardial/Fibroclastosis/Gis/Weight
3. Lungs Normal/Abnormal
(Rt- Lt) Hypoplastic/Congestion/Petechiae/Effusion Trachea Normal/Abnormal/T E Fistula/Weight
Appendices
367
4. Diaphragm
Normal/Abnormal
Hernia/Eventration
5. Esophagus Normal/Abnormal
Stenosis/Atresia/T-E Fistula
b) Abdomen
1. Liver - Normal/Abnormal
Weight
Situs Inversus
Rupture/Necrosis/Cirrhosis
2. Gall Bladder Normal/Abnormal/Atresia
3. Gut Normal/Abnormal/Malrotated/Atresia/Stenosis/Meckels Diverticulum/Volvulous/Megacolon
4. Apendix Location/Normal/Abnormal
5. Spleen Location/Asplenia/Polysplenia/Normal Weight
6. Adrenal Size/Normal/Abnormal/Hypoplastic Weight (RT Lt)
7. Kidney (Rt-Lt) Size/Normal/Abnormal Horse Shoe Shape/Pelvic/Polycystic/Agenesis/Weight
Ureter Normal/Abnormal/Hydroureter/Duplication
Bladder Normal/Abnormal
8. Pancreas Normal/Abnormal/Weight
9. Stomach Location/Normal/Abnormal
10. Gonads (Rt Lt) Ovaries Normal/Abnormal/Streak/Agenesis/Cystic
Uterus Shape/Normal/Abnormal/Bicornuate/Septate
Tube (Rt Lt) Normal/Abnormal
Vagina - Normal/Abnormal
11. Nervous System
1. Brain - Normal/Abnormal/Large/Small
Hemorrhage Subdural/Subarachnoid/Intraventricular Hydranencephaly/Porencephaly/Hydrocephaly/
Holoprosencephaly
2. Weight
3. Spinal Cord Normal/Abnormal
4. Eyes Normal/Abnormal/Large/Small
Lens/Sclera/Iris
(Summary of internal findings)
I.
Sections for H/ P Examination/Naked Eye Exam.
1. Placenta
2. Cord
3. Thymus
4. Heart
5. Lungs
6. Liver
7. Kidney
8. Adrenal
9. Ureter
10. Spleen
11. Pancreas
12. Ileum
13. Colon
14. Gonads
15. Stomach
16. Uterus/Vagina
17. Skin
18. Others
J. Radiological Examination
a) X- rays
Whole Body
AP
Lat.
Skull
AP
Lat.
b) C.T. Head
Sagittal Whole Body
Serology
Toxoplasma/VDRL/Rubella/CMV/Herpes/Parvovirus B
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An Atlas of Neonatology
K. Microbiology
Chlamydia/Listeria/Mycoplasma/Others
L. Cytogenetics
Karyotype/Tissue Culture/Placenta Culture
M. Photography
N. Others
Sl. No.
Weights
Ratios
I. Organs
a) Brain
b) Thymus
c) Heart
d) Lungs
e) Liver
f) Kidney
g) Adrenal
h) Spleen
i) Pancreas
II. Ratios
Normal Range
a) Lungs/Heart
2/1 to 4/1
b) Brain/Liver
2/1 to 4/1
c) Liver/Heart
4/1 to 7/1
d) Thymus/Spleen/Adrenal 1/1/1
FINAL DIAGNOSIS
SUMMARY
COUNSELING
Sulphate transporter
DTDST
CCA, FBN2
Beal syndrome
EVC
FOP, BMP2A
GBA1
GLB1
TBD, HEXA
GM2 II
MPSIH, IDUA
-L-iduronidase
FGFR3
TNS, ALP
COL2A1
Gaucher disease
GM1 gangliosidosis
GM2 gangliosidosis I
GM2 gangliosidosis II
Homocystinuria
Hurler syndrome
Hurler-Scheie syndrome MPSIS, IDUA
Hypochondroplasia
Infantile hypophosphatasia
Kniest dysplasia
5q23 - q31
Type II collagen
12q13 - q14
1p34 - p36.1
21q22.3
4p16.3
MPS Type I S
4p16.3
Cystathionine synthetase
-L-iduronidase
4p16.3
FGFR3
Alkaline phosphatase, liver/bone/kidney
20p12
1q21
3p21.33
15q22-q25
15q13
4q12.21
At least 3 foci
5q32 - q33.1
Xp
6p21
17q24 - 17q25
Acid glucocerebrosidase 1
galactosidase
Hexosaminidase A, polypeptide
Hexosaminidase B, polypeptide
4p16
Sulphate transporter
Short stature homeo box gene
DG11
EXT 1, 2, 3
DTDST
SHOX
Dentinogenesis imperfecta
Diaphyseal aclasis
Diastrophic dysplasia
Dyschondrosteosis
Ellis-van-Creveld
Campomelic dysplasia
CMD1, SOX9
Chondrodysplasia punctata X-linked dom.
CDPX2
Chondrodysplasia punctata X-linked rec.
CDPX1
Chondrodysplasia punctata (rhizomelic type) CDPR, PEX7
Craniocleidodysostosis
CCD, CBFA1
5q32 - q33.1
12q13 - q14
5q32 - q33.1
4p16.3
COL2A1
DTDST
ACH. FGFR3
Chromosome location
Symbol
Disease
Impaired mineralisation
Also achondroplasia
Ectopia lentis
MPS Type I H
Also Morquio
Tay Sachs
Sandhoff
Congenital arachnodactyly
Notes
Appendices
369
Symbol
LESD
MANB
MFS1, FBN1
GNS, G6S
GUSB
MPS II
ARSB
GNPTA
COMP, COL9A2
NPS1
NF1, VRNF
NF2, ACN
NPD, SMPD1
COL2A2, COL1A1
CALL, CALL
COL2A1
COMP
AHO, GNAS1
PDDR, VDD1
CTSK
ASC 3, SCS
See Hurler-Scheie
NEU
COL2A1
SEDT
COL2A1
TD, FGFR3
TRPS1
TRPS2, LGS
Disease
Letterer-Siwe disease
Mannosidosis
Marfan syndrome
McCune-Albright syndrome
MPS IIID
MPS VII
MPS II
MPS VI
Mucolipidosis II and III
Multiple epiphyseal dysplasia
Nail-patella syndrome
Neurofibromatosis I
Neurofibromatosis II
Niemann-Pick disease
Osteogenesis imperfecta
Osteopetrosis
Saethre-Chotzen syndrome
Scheie syndrome
Sialidosis
Spondylo-epiphyseal dysplasia congenita
Spondylo-epiphyseal dysplasia tarda
Stickler syndrome
Thanatophoric dysplasia
Trichorhinophalangeal syndrome 1
Trichorhinophalangeal syndrome 2
contd...
Defective gene product
Collagen 1, -2 polypeptides
12q13 - q14
Xp22
Collagen II, -1 polypeptide
8q24, 12
4p 16.3
6p21
12q13 - q14
neuraminidase
Collagen II,-1 polypeptide
FGFR 3
8q24.11 - q24.1
Deletion of EXT and TRP 1
7p21
12q13 - q14
19p13.1
20q
12q14
1q21
TWIST
Cathepsin K
8q22, 1p21
Sphingomyelinase
Carbonic anhydrase II
9q34
17q11.2
22q12.2
11p15.4 - p15.1
Neurofibromin
12q14
7q21.11
Xq27 - q28
5q13
4q21 - q23
19p12 - p13.1, 1p32.2 - p33
19p13.2-q12
15q21.1
Chromosome location
N-acetylglucosamine-6-sulfatase
glucuronidase
iduronidase 2 sulfatase
Arylsulfatase B
N-acetylaglucosaminic-1 phosphotransferase
COMP, Type IX collagen
mannosidase
Fibrillin-1
13q14-q31
Notes
Langer-Giedion
Mosaic phenotype
Hunters syndrome
Maroteaux-Lamy syndrome
I-cell disease (II). pseudo-Hurler (III)
Genetic heterogeneity
Disseminated histiocytosis X
370
An Atlas of Neonatology
(ii)
(iii)
(iv)
(v)
(vi)
(vii)
(viii)
(ix)
(x)
(xi)
(xii)
Predominantly Epiphyseal Dysplasias Multiple epiphyseal dysplasia, hereditary arthroophthalmopathy. (Stickler), chondrodysplasia punctata (Conradi), severe rhizomelic, milder forms
(i)
Achondroplasia G
MCD Jansen
MCD with
neutropenia
Conradi B
Stickler G**
Clinical
By Genetic/
Biochemical Testing*
Period/Early
Infancy
Neurofibromatosis G**
O.I.G**
Hypophosphatasia B.G**
MPS. MLS B
Marfan G**
Homocystinuria B
Thanatophoric G
Achondrogenesis G**
Campomelic G**
Pre-Natal Diagnosis
By Ultrasound
Examination+
(G; B.)
Hypophos rickets
Pseudohypo-para:
MPS
Marfan
Homocystinuria
Pseudoaction:
Hypochondroplasia
Dyschondrosteosis
Acrodysostosis
SED tarda
Myositis oss.
Poly. fib. dys.
Melorheostosis
Neurofibromatosis
All others
Ost. imp.
Hypophosphatasia
MLS
Marfan (neonatal)
Cong. contractural
arachnodactyly
All
Achondroplasia
SED cong.
Clinical
Diagnosis In
Neonatal
Appendices
371
372
An Atlas of Neonatology
Appendices
373
374
An Atlas of Neonatology
APPENDIX-4
Pedigree Symbols
Appendices
Degrees of relationship
Proportion of genes shared
First degree
Sibs
Dizygotic twins
Parents
Children
Second degree
Half sibs
Uncles, aunts
Nephews, nieces
Third degree
First cousins
Half uncles, aunts
Half nephews, nieces
1/2
1/4
1/8
375
376
An Atlas of Neonatology
Patterns of Relationships
(Contd...)
Appendices
(Contd...)
377
378
An Atlas of Neonatology
APPENDIX-5
Neonatal Case Record
Chigateri District Hospital, Davangere - 577 004.
Neonatal Case Sheet, Department of Paediatrics
Name B/o
Age
Sex
Address
:
:
:
:
Sl. No
Hospital No
D.O.Birth
D.O. Admission
Father
Street
Town/Village
District
State
:
:
:
:
MATERNAL HISTORY:
I.
Medical History:
Age
Gravida
Parity
Living children
Blood group & Rh.
Consanguinity
- Uncle Niece
- First cousin
- BFC
Pedigree
II. Hypertension
Diabetes
Heart disease
Tuberculosis
Asthma
Epilepsy
Thyroid disease
UTI
Others Smoking
Alcoholic
Narcotics
Outcome
Date of
delivery
Gestational
age
Sex
B.Wt. N
Abortion/Stillbirth
Neonatal death
I
II
III
IV
V
Present pregnancy
1. LMP
2. EDD
3. ANC
4. USG abdomen
5. X-ray chest
6. NST / OCT
7. Hb%
8. P. smear
9. VDRL
10. HBsAg
a)
b)
c)
d)
e)
f)
g)
h)
i)
j)
Hypertension/PHE/Eclampsia
Anaemia
Diabetes - stage
Jaundice - type
Oligo/polyhydramnios
Vaginal bleeding
Heart disease
PROM
Seizure
Placental insufficiency
Appendices
11.
12.
13.
14.
HIV
TORCH
Urine
Others
Labour events:
1) Spontaneous / Induced
2) Drugs- Oxytocin
Pethidine
Tocolytic agents
3) Duration:
1st stage......hrs
2nd stage........hrs
4) PROM
5) MSAF
Delivery events:
I) Type - Normal vaginal
Instrumental
Caesarean section
II) Presentation
-Vertex
-Breech
-Others
Indication:
Drugs Gen anesthesia
Spinal / Epidural
Others
III) Place
-Hospital
-Home
-PHC
-Other Hospital
Postnatal events:
* Resuscitation methods used
* Drugs used for NALS
* APGAR
1
5
10
Physical examination:
I) -Single/Twin : 1st twin/2nd twin
-Gestational age.......wks (Table-1)
-Sex
-Cry
-Colour
-Activity
-B weight.......kgs (Table-2)
-Length.........cms
-H.C.............cms
-M.A.C........cms
-Plantar
-HR
RR
BP
379
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An Atlas of Neonatology
Palmar
Neck
Chest
CVS
Lungs
Abdomen
Genitalia
Extremity
External cong. anomalies
IMPRESSION
Course in hospital
Treatment given
Discharge plan
Follow-up
Dysmorphic child
Appendices
(Abortion / Stillbirth / Neonatal death with or without congenital malformation)
Name of Mother ....................................................... Age ...............................................................................................
Name of Father ......................................................... Age ...............................................................................................
Date and time of receiving the neonate / foetus ...........................................................................................................
Pedigree:
Obstetrics:
- Single / Multiple pregnancy
- History of drug intake/Viral Fever/Radiation/Lymphadenopathy/Rashes
- Obstetric USG report
- Medical history
PHYSICAL EXAMINATION:
1) General appearance:
Habits : N/Thin/Fatty/Dwarf/Hydrops/Asymmetrical
Skin : N/lchthyosis/Loose/Hyperpigmented/Petechiae
Evidence of trauma/Constriction
Measurements :
2) Craniofacial:
Skull
Face
Hair
Eyebrows
Eyes
:
:
:
:
Ear
Nose
Philtrum
Lips
Mouth
Palate
Tongue
Upper jaw
:
:
:
:
:
:
:
:
381
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An Atlas of Neonatology
Lower jaw
Neck
3) Thorax:
Chest
Nipple
Breast
Ribs
Vertebrae
:
:
N / Micrognathia / Retrognathia
N / Short / Webbing / Cystic hygroma
:
:
:
:
:
4) Upper limb
Hand
Fingers
:
:
:
Palmar crease
Nails
5) Lower limb:
Length
Position
:
:
:
:
Nails
Foots
Toe
:
:
:
6) Abdomen
7) Umbilicus
8) External genitalia:
N: Female / N male Ambiguous - Male / Female
Penis
: N / Short / Long
Clitoris
: N / Short / Long
Urethra
: N / Hypospadias / epispadias
Testes
: N / Undescended / Agenesis
9) Anus
: N / Patent / Imperforate
Systemic Examination:
CNS
CVS
RS
PA
Radiological investigations
Microbiological tests
Cytogenetics
Serology
Photography
Signature of Doctor.
Appendices
383
Weight in pounds
Weight in Kgs
384
An Atlas of Neonatology
INDEX
A
Abnormal abdominal masses 38
Abnormal baby 13
Abnormal heart size 177
Abortion 1
Air bronchogram 172
Ambiguous genitalia 244
Anatomy of the breast 90
Anomalies of extremities
polydactyly 255
syndactyly 256
Anomalies of the face region 221
body stalk anomaly 235
cleft lip and palate 222
congenital hypertrophic pyloric stenosis 239
cystic hygroma 229
diaphragmatic hernia 230
duodenal atresia 238
Eagle Barrett syndrome 235
ectopia cordis 234
ectopia vesicae 236
epignathus 224
esophageal atresia 237
external ear malformations 228
eye anomalies
anophthalmos 225
cryptophthalmos 225
microphthalmos 225
gastroschisis 234
Hirschsprungs disease 242
ileojejunal atresias 240
imperforate anus 242
median cleft lip 222
neonatal cataracts 226
neonatal corenal opacities 227
omphalocele 233
Pierre Robin sequence 221
Prune belly syndrome 235
umbilical hernia 233
Antenatal fetal distress 9
Anthropometry 32, 67
birth weight 67
head circumferences 70
length 69
mid-arm circumference 71
special morphometry 71
ears 73
eyes 71
foot length 78
head 71
internipple distance 77
large ears (macrotia) 75
long ears 75
B
Battered baby syndrome 123
Beckwith-Wiedemann syndrome 275
Biliary atresia 112
Birth injuries 114
caput succedaneum 115
cephal hematoma 115
scalp injuries 115
skin and superficial injuries 114
subcutaneous fat necrosis 114
subgaleal hemorrhage 117
vacuum extraction injuries 117
Birth weight groups 1
Bleeding neonate
approach to a bleeding neonate 160
clinical presentation 160
etiology 160
vit K deficiency bleeding 162
Bone fractures 118
brachial plexus injuries 120
breech deformation 123
Erbs palsy 121
facial nerve palsy 121
fracture of clavicle 120
internal organ injury 122
Klumpkes palsy 121
long bone fracture 120
scrotal injury 122
Breastfeeding
benefits 89
benefit to the nation 89
benefits to family 89
benefits to the baby 89
benefits to the mother 89
guidelines for successful breastfeeding 92
types 90
Breastfeeding and HIV 145
C
CANS
signs 84
abdomen 88
arms 84
back 85
buttocks 85
cheeks 84
chest 85
hair 84
legs 85
neck and chin 84
Caudal regression syndrome 164
Causes of perinatal death 2
Cephal hematoma 167
Chlorhexidine 32
Choledochal cyst 113
Chromosomal abnormality 268
cat cry syndrome/cri du chat syndrome
275
deletion 9P
syndrome 276
duplication 10 q syndrome 276
trisomy 13 (Patau syndrome) 270
trisomy 18 (Edwards syndrome) 272
trisomy 21 (Downs syndrome) 268
Turners syndrome 273
WAGR syndrome 274
Chronic cholestasis 111
Classification of newborns 80
based on birth weight for gestational age 81
based on gestational age 80
based on weight 80
classification based on weight for
gestational age 82
CNS malformations 204
abnormal shapes of head 220
anencephaly 209
Arnold-Chiari malformations 220
congenital scalp defect 217
Dandy Walker malformation 216
encephaloceles 211
external cerebral formation 204
holoprosencephaly 206
hydrocephalus 215
iniencephaly 209
internal cerebral formation 204
meningoceles 213
meningomyeloceles 213
microcephaly 218
neural tube defects 205
otocephaly 220
overview of brain development 204
porencephalic cysts 221
spina bifida occulta 212
X-linked hydrocephalus spectrum 216
386
An Atlas of Neonatology
Cold chain 25
Common minor malformations 201
Common neonatal infections 128
bullous impetigo 132
common bacteria in neonatal infection
group B Streptococcus 128
Haemophilus influenzae 128
Listeria monocytogenes 128
Staphylococcus epidermidis 128
Streptococcus pneumoniae 128
iatrogenic thrombophlebitis 134
meningitis 129
omphalitis 130
ophthalmia neonatorum 129
oral thrush 132
scabies 132
septic arthritis 133
staphylococcal scalded skin syndrome 131
tetanus 130
Complications of perinatal asphyxia 148
Congenital absence of ribs 264
Congenital CML 168
Congenital diaphragmatic hernia 13
Congenital heart diseases 176
abnormal heart shapes 177
congenital heart disease and chromosomal
abnormalities 179
congenital heart disease and systemic
malformation 179
cyanosis 176
globular heart 178
globular-Ebsteins anomaly 178
myocardial disorders 179
syndromes associated with congenital heart
disease 179
TOF 178
transposition of great vessels 178
Congenital hypothyroidism 264
Congenital malformations 200
causes 202
incidence 200
terminology 200
Congenital pneumonia 175
Congenital talipes equinovarus 256
Congenital vaginal occlusion 246
Craniosynostosis
acrocephalosyndactyly 322
Apert syndrome 322
Carpenter syndrome 323
clover leaf skull deformity 323
D
Diabetic embryopathy 164
Diabetic fetopathy 163
Dysmorphic child 266
E
Epidermolysis bullosa 264
Examination of placenta
importance 191
significance 198
Exchange transfusion 107
F
Facial limb defects
Langer Giedion syndrome 298
otopalatodigital syndrome II 298
Stickler syndrome 299
Features of placenta 192
abnormal placentation 193
abnormalities of placental membranes
amnion nodosum 195
chorioamnionitis 195
meconium stain 195
placenta in amniotic band syndrome
195
abnormalities of placental weight 192
circumvallate palcenata 194
cord abnormalities 196
hematoma of the umbilical cord 197
placentas of multiple gestation 198
single umbilical artery 196
true knots of the umbilical cord 197
umbilical cord length abnormalities 196
velamentous insertion 197
fenestrated placenta 194
Feeding problems 92
breast abscess 96
engorgement of breast 95
inverted/flat nipple 92
sore nipple 95
Female pseudohermaphroditism 245
Fetal death
early 1
intermediate 1
late 1
Fetal injury 83
Fetal overgrowth
Beckwith-Wiedemann syndrome 282
FM 84
plantar surface 61
skin 59
Gestational age group
adequate-for-gestational age 2
large-for-gestational age 2
small-for-gestational age 2
Gestational groups 1
Growth restriction
Brachmann-de Lange syndrome 277
Hallermann Streiff syndrome 278
Johnson Blizzard syndrome 278
Robinows syndrome 280
Russell-Silver syndromes 277
Seckels syndrome 282
Smith-Lemli-Optiz (SLO) syndrome 279
H
Hamartomus nevi 263
Hammer toe 258
albinism 260
arthrogryposis multiplexa congenita 258
Collodion baby 262
developmental dysplasia of hip 258
Harlequin syndrome 261
Milroy disease 262
Handles for syndrome identification 267
Heat loss 9
Hemangioma 168
Hemorrhagic disease of the newborn 162
HIV status code 146
HIV-positive pregnant women 142
Hyaline membrane disease 172
Hydrocele 244
Hydronephrosis 252
Hydrops fetalis 109
Hyperbilirubinemia 105
Hypospadiasis 246
Hypothyroidism 263
Hypoxic ischemic encephalopathy
clinical features 148
Hypsarrhythmia 159
G
Gavage-feeding 99, 100
Gene locations of the skeletal dysplasias
369
Genetic syndromes 266
Gestational age 1
Gestational age assessment 59
neurological parameters 64
arm recoil 65
heel to ear 66
popliteal angle 65
posture 64
scarf sign 66
square window 64
physical parameters 59
breast 62
ear 62
eye 62
genitals-female 63
genitals-male 63
lanugo 60
I
Infant mortality rate 3
Infantometer 69
Information about medical genetics in India
359
Intramammary reflexes 92
Intrauterine infections
clinical manifestations 135
cytomegalovirus 137
herpes 137
rubella 137
syphilis 137
toxoplasmosis 137
IUGR 84
IUGR babies 82
J
Jaundiced neonate 104
Index
K
Kernicterus 105
L
Labor room procedures
steps 4
Life-threatening congenital anomalies 31
Limb abnormalities 302
EEC syndrome 306
femoral hypoplasia 304
Grebe syndrome 302
Larsen syndrome 307
lethal multiple pterygium syndrome 310
popliteal pterygium syndrome 304
radial dysplasia 305
unusual facies syndrome 304
Live birth 1
Lobar holoprosencephaly 158
Low birth weight babies 82
M
Macrosomia 165
Male pseudohermaphroditism 245
Malformation syndromes 266
Maternal hormones 48
Meconium aspiration syndrome 173
Meconium stained amniotic fluid 13
Meconium stained newborn 13
Microcephaly 138
Minolta transcutaneous bilirubinometer 103
Miscellaneous abdominal tumor 255
Miscellaneous anomalies of external genitalia
247
Miscellaneous syndromes 335
infantile polycystic kidney 336
Jarcho Levin syndrome 335
leprechaunism (Donohues syndrome) 336
lipodystrophy 336
Milroys disease 336
N
NALS 8
medications used 13
Neonatal anemia
causes 166
clinical evaluation 170
Neonatal case record 378
Neonatal cold injury 151
Neonatal convulsions
mimics of convulsions 155
subtle convulsions 155
Neonatal hepatitis syndrome 111, 112
Neonatal immunization
BCG vaccine 22
adenitis 24
complications 24
hepatitis B vaccine 24
immunization of babies born to HIVpositive mothers 25
oral polio vaccine 24
preterm immunization 25
O
Oxygen 11
Oxytocin 91
387
P
Paladay and cup spoon-feeding 98
Pallor 166
Pedigree symbols 374
PEP recommendation 147
Perinatal HIV infection
diagnosis of HIV infection in neonatal
period 140
in utero transmission 140
intrapartum transmission 140
postpartum transmission through
breastfeeding 140
timing and mechanism of transmission 140
Perinatal mortality rate 2
Perinatal period 1, 2
Phototherapy 106
Physical examination of the newborn 31
general examination 32
head to foot examination 32
ophthalmoscopic examination 36
washing hands 32
Physical recognition of syndrome 267
Physiology of lactation 90
Porencephaly 158
Prevention of hypothermia in newborn 152
Primary brain defect 284
COFS (cerebrooculofacio-skeletal
syndrome) 285
Freeman Sheldon syndrome 289
Meckel-Gruber syndrome 286
Menkes syndrome 284
Neu-Laxova syndrome 286
Pena-Shokeir syndrome 285
Schwartz-Jumpel syndrome 288
Walker Warburg syndrome 284
XLR-aqueductal stenosis 285
Zellweger (cerebro-hepato-renal) syndrome
288
Primary facial anomalies 290
anophthalmia 298
blepharophimosis 291
cataract 298
cleft lip sequence 291
Fraser syndrome 290
frontonasal dysplasia 295
Goldenhar syndrome 292
median cleft face syndrome 298
microphthalmia 298
orofaciodigital syndrome 293
Robin sequence 298
Treacher Collins syndrome 291
Van der Woude syndrome 292
Waardenburgs syndrome 296
Primary soft tissue/connective tissue anomalies
324
beals contractural arachnodactyly 329
Ehlers-Danlos syndrome 327
Harlequin syndrome 330
Klippel-Trenaunay-Weber syndrome 324
Marfans syndrome 326
osteogenesis imperfecta type II perinatal
lethal 324
osteogenesis imperfecta type III 326
restrictive dermopathy 329
388
An Atlas of Neonatology
R
Rectovesical fistula 246
Relactation 96
Renal cystic diseases 250
Respiratory distress 171
assessment of respiratory distress 172
causes
anatomic problems compromising
respiratory system 171
pulmonary disorders 171
systemic disorders 171
clinical evaluation 173
predisposing and protective factors 173
Respiratory distress syndrome 172
Resuscitation 8
Rh-incompatibility 109
Rocker bottom foot 258
Routine care of the newborn
bathing 16
cold care 17
eye care 17
prevention of hypothermia 16
recording daily weight 17
screening for congenital disorders 19
watching for danger signs 17
S
Scrotal hematoma 168
Selected neonatal syndromes 351
miscellaneous syndromes 355
syndromes of skeletal dysplasias 354
syndromes with disordered growth 351
syndromes with facial limb malformation
354
syndromes with limb anomalies 353
syndromes with major facial defects 352
syndromes with primary brain/
neuromuscular abnormality 352
Septic arthritis 134
Septicemia baby 126
Sequence and associations
amniotic rupture sequence 337
arthrogryposis 347
caudal dysplasia sequence 345
T
Tachyarrhythmias 14
Tactile stimulation 11
Teratogens 202, 334
CMV 335
congenital rubella syndrome 334
congenital varicella syndrome 335
syphilis 335
toxoplasmosis 335
Teratomas
sacrococcygeal teratoma 247
Term infants 128
V
Vaccine carriers 26
W
Wilms tumor 252
Z
Zellweger syndrome 158