Kelainan kongenital

Ruby RA
FKUMM

Definition (WHO)
! Congenital anomalies are also known as birth defects,

congenital disorders or congenital malformations.

Congenital anomalies can be defined as structural or
functional anomalies, including metabolic disorders,
which are present at the time of birth.

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WHO
! Congenital anomalies (also referred as birth defects) affect

approximately 1 in 33 infants and result in approximately

3.2 million birth defect-related disabilities every year
! The most common serious congenital disorders are heart

defects, neural tube defects and Down syndrome

! About 110 000 cases of babies born with congenital rubella

syndrome can be prevented through timely vaccination of

the mothers during childhood and the reproductive years.
! An adequate intake of folic acid, iodine, vaccination, and

adequate antenatal care are key.

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Genetik
a. Sex atau autosomal khromosom
b. dominan atau resesif
2. Lingkungan selama proses kehamilan
a. pesticides, medicinal and recreational drugs, alcohol, tobacco, certain
chemicals, high doses of vitamin A during the early pregnancy, and high
doses of radiation
b. infeksi
c. trauma mekanis
d. anoxia/hypoxia
e. Nutrien ! sosek
3. Kombinasi genetik dan lingkungan

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Schematic illustration of the critical periods in human development. During the first two weeks development, of the embryo is usually
not susceptible to teratogens. During these pre-embryonic stages, a teratogen either damages all or most of the cells, resulting in its
death, or damages only a few cells, allowing the conceptus to recover and the embryo to develop without birth defects. Red denotes
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highly sensitive periods when major defects may be produced (e.g. amelia, absence of limbs). Yellow indicates stages that
are less
sensitive to teratogens when minor defects may be induced (e.g. hypoplastic thumbs)

! Malformations are caused by intrinsically abnormal

processes during the development of the egg or the

sperm, or during fertilisation. These include the
anomalies that are caused by chromosomal
abnormalities, for example having an extra
chromosome 21 in Downs Syndrome,and single gene
defects, for example, campomelic syndrome.

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! Disruptions refer to defects that are caused by the

interference with an originally normal developmental

process. Disruptions can be caused by teratogens such
as drugs, for example alcohol, thalidomide and
warfarin; chemicals, for example polychlorinated
biphenyls (PCBs); viruses, for example cytomegalovirus
(CMV) and rubella; and ionising radiation, for example
X-rays.
! Deformations are abnormal forms, shapes or positions

of a part of the body and result from mechanical forces.

For example, twins can suffer limb deformation such as
clubbed foot due to the crowded uterine space.
! Dysplasia refers to the abnormal organisation of cells

into tissue. The causes are generally nonspecific and as

a consequence often affect several organs
simultaneously.

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Prevention
! Improving the diet of women throughout their

reproductive years.
! Avoiding exposure to hazardous environmental

substances (e.g. heavy metals, pesticides, some

medicinal drugs) during pregnancy.
! Improving vaccination coverage, especially with rubella

virus, for children and women.

! Increasing and strengthening education to health staff

and others interested in promoting birth defects

prevention.
http://www.who.int/mediacentre/factsheets/
fs370/en/index.html

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Detection
! Preconception screening is used to identify persons at

risk for specific disorders or at risk for passing one on

to their children.
! Antenatal screening includes screening for advanced

maternal age, Rhesus blood group incompatibility, and

carrier screening. Ultrasound can be used to detect
Down syndrome during the first trimester and serious
fetal anomalies during the second trimester
! Newborn screening includes clinical examination and

screening for haematological, metabolic, and hormonal

disorders.
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CONGENITAL ANOMALY

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Congenital Talipes Equino

Varus
(Club Foot)

The hips are

always flexed
and externally
rotated,
while
the knees are
usually flexed
and the feet
turned inward
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Bertujuan mencapai
kesempurnaan fungsi organ
dengan mengkoreksi
kelainan anatomis sedini
mungkin
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Talipes = Talus = ankle

Pes = kaki
Equinus = jari lebih rendah
Varus

= lateral kaki sebagai alas

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Cavus - relative pronation of forefoot c.f. hindfoot

Adduction forefoot

Varus heel

Equinus heel

Supination - midfoot

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Terapi :
a.Konservatif :

serial plastering selama 8 minggu

pada tipe fleksibel (subyektif)
umur < 5 bulan
sirkuler gips atas lutut (above knee)

b.Operatif :

konservative gagal
umur > 5 bulan
tipe rigid
dilakukan post medial release (PMR) + Achilles tendon
lengthening (ATL) kmd sirkular gips 6 minggu

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Congenital Muscular
Torticollis

(Sternomastoid Tumour)

Torticollis
" Muscular

" Bony

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Etiology
" Birth trauma
" Vascular
" Compartment syndrome

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Management

" Physiotherapy

" Surgery

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Congenital Scoliosis
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" failure of formation

" failure of segmentation
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Adams Forward Bending Test

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Management
" Observation
" Bracing
" Surgery

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" kegagalan separasi (differensiasi) jari pada

minggu ke 6-8 intra uterine

" 1 dari 2250 kelahiran

" 50% bilateral
" 57% antara jari III-IV
" pria 2x wanita
" 10-40% ada riwayat keluarga
" multifaktorial
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Klinis :
" jari menjadi satu
" Simple (skin & soft tissue) & complex (tulang)
" complete & incomplete

Therapy :
" Teknik : - simple : Z plasty

- complex : separasi tulang dan

Z plasty

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Ciri-ciri
"
"
"
"
"
"
"

Herediter autosomal
Dominan atau resesif
Tulang osteoporotik dan mudah patah
Tulang bengkok (bowing)
Ligamen hyperlaxity
Blue sclera
Dentinogenesis

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ANOMALI NEPHRIC SYSTEM

A. JUMLAH :
1. RENAL AGENESIS :
Unilateral atau bilateral
Didapati secara kebetulan
Tanpa keluhan (bila unilateral)
2. SUPERNUMERARY KIDNEY : jarang

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IJ%

BILATERAL RENAL AGENESIS

Lahir mati : (kebanyakan)
Masa hamil : Oligo Hydramnion
Tanda khas : " Potter Face
Yaitu
Elfin Ears" ! telinga lebar letak rendah
Hidung
Mata

!
!

flattening
lebar

Laki-laki ! lebih sering

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I-%

ANOMALI NEPHRIC SYSTEM

B. RENAL EKTOPIK

Macam :
Pelvic Ectopic Kidney
Crossed Ectopic Kidney
Thoraxic Kidney
Abdominal Kidney

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II%

RENAL HYPOPLASIA
Jarang
Unilateral > kanan
>
Ginjal kiri > kanan
DD : - Renal dysplasia
- Contracted kidney

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IF%

ANOMALI NEPHRIC SYSTEM

C. BENTUK RENAL FUSION :

Artinya : ginjal bersatu secara anatomik, fusi menghambat rotasi

yang normal, sehingga didapatkan pula malrotasi
MACAM-MACAM KELAINAN FUSI :
1. Crossed renal extopi dengan fusi disebut ginjal bentuk "S" atau
"Sigmoid Kidney" atau berbentuk "L".
2. Pelvic kidney dengan fusi
3. Horseshoe kidney
Fusi dapat berupa jaringan parenchym ginjal, tapi dapat pula hanya
berbentuk jaringan ikat
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IK%

HORSESHOE KIDNEY
Congenital anomaly kidney - yang sering dijumpai
90 % ! fusion pada lower pole
KOMPLIKASI :
Partial ureter obstruksi
Infeksi
Batu (Lithiasis)
Malignancy
!>!
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IL%

ANOMALI NEPHRIC SYSTEM

D. LOBULASI GINJAL :

1. KISTA SOLITER : SYMPLE CYST

Biasanya unilateral - tunggal

Tanpa keluhan, kecuali kista membesar oleh karena :

Perdarahan
Infeksi

Keganasan

Menekan Ureter ! terjadi Hydronephrosis Ginjal

Mengalami degenerasi Maligna : 5% ! Perdarahan ! Nyeri hebat

2. MULTI CYSTIC KIDNEY :

Non heriditair-unilateral
Ureter tak terbebtuk atau Atretik
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IM%

ANOMALI NEPHRIC SYSTEM

3. POLI CYSTIC KIDNEY
Heriditair - Bilateral
Ada 2 tipe :
# Infantil ! Progresif
Prognosa jelek
# Adult
Didapati pula kista-kista pada organ lainnya
Misal : Paru-paru, Pancreas, Hati, Limpa
Komplikasi :
# Hypertensi
# Kegagalan ginjal lanjut / kronis
Operasi dikerjakan bila terjadi :
# Obstruksi
# Infeksi
# Perdarahan

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IN%

ANOMALI OF RENAL PELVIS AND URETER

1. Pyelum bifidum
2. Uretero pelvic junction obstruction
3. Duplikasi ureter :
4. Complete double sistem
5. Incomplete double sistem

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IO%

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-J%

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-I%

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KELAINAN URETHRA

1. HYPOSPADIA
- Muara urethra yang abnormal pada sisi ventral dari penis
macam : - glandular
- coronal
- penile
- penoscrotal
- perineal
Hampir selalu disertai adanya chordae
2. Epispadia :
- muara urethra pada sisi dorsal penis
3. Posterior - urethral - valve
4. Congenital urethral fistula
5. Urethral diverticula
6. Megalo - urethra

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F.%

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KELAINAN GENITALIA EXTERNA

1. Phimosis
2. Paraphimosis
3. Micropenis
4. Aphallia

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FK%

KELAINAN TESTIS

1. Agenesis testis :
# scrotum di mana testis (-) ! juga mengalami atrophy
2. Ectopic testis :
# testis tidak pada jalurnya, yaitu keluar dari jalurnya
setelah keluar dari anulus inguinalis externus
# posisi :
superficial inguinal (terbanyak)
perineal
femoral
penile

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FL%

3. Cryptorchismus :

secara embryologis ! testis berada intraperitoneal terjadi

migrasi "trans abdominal", di mana testis turun sampai
didekat anulus inguinalis internus
kemudian terjadi "migrasi trans inguinal" di mana testis dan
epididimis turun membawa serta prosesus vaginalis
insiden : Bayi prematur !
Bayi aterm

: 33 %

: 3%

Jadi cryptorchismus : testis yang terhenti dalam perjalanannya,

sebelum mencapai scrotum

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FM%

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