J ournal of Oral and Maxillofacial Radiology / J anuary-April 2013 / Vol 1 | Issue 1 25

INTRODUCTION
The pyknodysostosis name derives from the Greek pyknos,
meaning dense. The disorder is also known as Toulouse-
Lautrec syndrome, named for the famous French artist
who was thought to be aficted with pyknodysostosis.
[1]

Pyknodysostosis is an autosomal recessive disorder of
osteoclast dysfunction causing osteosclerosis. Some features
of pyknodysostosis overlap the common osteopetrosis and
cleidocranial dysostosis.
[2]
It is believed that the rst case
description was in 1923 by Montanari; however, it was not
until 1962 that Maroteaux and Lamy dened the characteristic
features of pyknodysostosis.
[3]
Its incidence estimated to be
1.7/1 million births.
[4]
It is usually diagnosed at an early
age, made as a result of bone fracture, because of the
severe bone fragility. Oral and maxillofacial manifestations
of this disease are remarkably clear. The head is usually
large, frontal bossing, the nose beaked, the mandibular
angle obtuse, and both maxilla and mandible hypoplastic.
Dental abnormalities and impaction are observed, as well as
alterations in eruption and frequent dental crowding seen.
[5]
Multislice computed tomography (CT) with multiplanar
reformatted 3D surface-shaded and volume-rendered
images demonstrated detailed anatomic and pathologic
features of the teeth and facial bones in this patient with
pyknodysostosis. Excellent delineation of unerupted and
partially erupted teeth was obtained.
[6]
CASE REPORT
A 28-year-old man came to our Department of
Radiodiagnosis for an orthopentogram, and CT of the
face and upper thorax. The patient had presented to the
oral-maxillofacial surgery clinic with the complaint of
numerous unerupted teeth and pus discharge from gum.
Panorex radiograph revealed multiple disorganized crowded
deciduous and permanent teeth within the expanded
maxillary, and mandibular alveolar processes [Figure 1].
Corresponding Author: Dr. Dharmraj Meena, Department of Radio-Diagnosis, Government Medical College and Associated Group of
Hospitals, Kota - 324 001, Rajasthan, India. E-mail: dr.dharmrajmeena9875@hotmail.com
Case Report
A case report of pyknodysostosis with
cleidocranial dysplasia: Computed tomography
and panoramic imaging
Dharmraj Meena, Mohammed Zuber, Samadhan Pawar, Shweta Rani
Department of Radio-Diagnosis, Government Medical College and Associated Group of Hospitals, Kota, Rajasthan, India
A B S T R A C T
Pyknodysostosis is an extremely rare autosomal recessive genetic osteosclerotic disorder caused by cathepsin K deciency leading
to decrease in the bone turnover. It is characterized by short stature, brachycephaly, short and stubby ngers, open cranial sutures
and fontanelle, and diffuse osteosclerosis. Multiple fractures of long bones and osteomyelitis of the jaw are frequent complications.
We describe a 28-year-old male with clinically as well as radiologically multislice computed tomography (CT) and panoramic studies
of pyknodysostosis. The purpose of multislice CT of the jaw was to understanding of the complete abnormal facial anatomy and is
useful for planning of tooth extraction and/or implantation of prosthetics as well as to know earlier changes of dental abscess and/
or carries development.
Key words: Acro-osteolysis, cleidocranial dysplasia, osteochondrodysplasia, pyknodysostosis
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Meena, et al.: Pyknodysostosis with cleidocranial dysplasia: Computed tomography and panoramic imaging
J ournal of Oral and Maxillofacial Radiology / J anuary-April 2013 / Vol 1 | Issue 1 26
Many of the teeth were unerupted or only partially erupted.
Precise evaluation of anatomic relationships among teeth
was difcult secondary to overlap. This problem was
worst in the areas of teeth crowding. Lucencies around the
unerupted teeth, possibly representing normal follicles, were
present; however, ill-dened borders may have indicated a
superimposed inammatory/infectious process. The gonial
angle of the mandible was obtuse.
Noncontrast CT of the maxillofacial and upper thoracic
regions was performed on a multislice CT scanner
(Somatom Sens 40, Siemens Medical Systems). Axial
images were obtained by using 1.5-mm collimation, and
multiplanar and 3D reconstructions were generated on
a workstation (Syngo CT 2007S). The reconstructed
maxillofacial and upper thoracic regions soft tissue inspace
image revealed characteristic short stature, frontal bossing,
and depressed nasal bridge and hypoplastic midface
abnormalities [Figure 2]. The inspace bony reconstructed
images were demonstrated clavicular and craniofacial
dysplasia and dorsal kyphoscoliosis [Figures 3a, 3b], Axial
[Figure 4a] and sagittal [Figure 4b] reformatted images
demonstrated multiple dental abnormalities. There was
persistence of the deciduous teeth within the maxilla,
causing marked crowding. The teeth were misaligned and
disorganized, and multiple teeth were unerupted or only
minimally erupted. Unerupted teeth were surrounded by
well-dened lucent areas, consistent with normal follicles.
Poorly marginated lucencies in this location suggested
inammation and/or infection. Along with the dental
abnormalities, marked hypoplasia of the maxillary and
sphenoid sinuses with undeveloped frontal sinuses was
noted. Unerupted maxillary teeth were seen in the oor of
the hypoplastic maxillary sinus, with a few teeth protruding
into the antrum. The hard palate was relatively deep and
grooved. At the level of base of skull axial [Figure 5a] and
Figure 1: Panorex radiograph revealed multiple disorganized crowded
deciduous and permanent teeth within the expanded maxillary and mandibular
alveolar processes
Figure 2: The surface-rendered 3D soft tissue reconstructed (inspace) image
of maxillofacial and upper thoracic regions revealed characteristic short stature,
frontal bossing, depressed nasal bridge and hypoplastic midface abnormalities
Figure 3: (a) The surface-rendered 3D bony reconstructed (inspace) anterior posterior (AP) image was demonstrated clavicular-craniofacial dysplasia and
dorsal kyposcolisis (b) The surface-rendered 3D bony reconstructed (inspace) posterior anterior (PA) image was demonstrated clavicular-craniofacial dysplasia
and dorsal kyposcolisis
a b
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Meena, et al.: Pyknodysostosis with cleidocranial dysplasia: Computed tomography and panoramic imaging
J ournal of Oral and Maxillofacial Radiology / J anuary-April 2013 / Vol 1 | Issue 1 27
Figure 4: (a) The axial reformatted image demonstrated numerous unerupted, misaligned and disorganized deciduous teeth within the maxilla, causing marked
crowding; (b) The sagittal reformatted image demonstrated numerous unerupted, misaligned and disorganized deciduous teeth within the maxilla, causing
marked crowding
a b
Figure 5: (a) The axial reformatted image shown thickened and sclerotic bones, nonpneumatization of temporal and mastoid air cells and hypoplastic sphenoid
sinuses; (b)The sagittal reformatted image shown thickened and sclerotic bones, hypoplastic sphenoid sinuses and undeveloped frontal sinuses
a b
sagittal [Figure 5b] reformatted image shown thickened
and sclerotic bones, nonpneumatization of temporal
and mastoid air cells, hypoplastic sphenoid sinuses and
undeveloped frontal sinuses. Axial images [Figures 6a, 6b]
of skull bones revealed open fontanelles, and sutures along
with wormian bones in the lambdoidal region. Wormian
bones within the lambdoid suture, a nding often associated
with pyknodysostosis
Figure 6: (a) Axial image of skull bones revealed thickened and sclerotic along with wormian bones in the lambdoidal region; (b) Axial image of skull bones
revealed open fontanelles, and sutures along with wormian bones in the lambdoidal region
a b
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Meena, et al.: Pyknodysostosis with cleidocranial dysplasia: Computed tomography and panoramic imaging
J ournal of Oral and Maxillofacial Radiology / J anuary-April 2013 / Vol 1 | Issue 1 28
The surface-rendered 3D image gave an overview of
these deformities. Irregular dentition was best delineated
with volume-rendered display. Interactive review at
the workstation with rotation in any axis bony to soft
tissue and simultaneous orthogonal/oblique multiplanar
reconstructions allowed a thorough understanding of all
the abnormalities.
DISCUSSION
Pyknodysostosis is a rare hereditary disorder rst described
by Maroteaux and Lamy (1962). The syndrome was
characterized by osteosclerosis of the skeleton, short stature,
and bone fragility. Facial dysmorphology, hypoplasia of the
mandible, dysplasia of the skull, bones with delayed closure
of the cranial sutures, clavicular dysplasia, acroosteolysis or
partial aplasia of the terminal phalanges, and abnormal tooth
eruption have also been reported. The pyknodysostosis
is uncommonly associated with craniosynosotosis. An
autosomal recessive mode of inheritance has been also
suggested, and the locus of the disease was initially mapped
to human chromosome 1q21 by genetic linkage.
[7]
Cranial and maxillofacial features of pyknodysostosis
include frontoparietal bossing, thick calvaria, open
fontanelles and sutures, hypoplastic paranasal sinuses,
wormian bones in the lambdoidal region, beaked nose,
and an obtuse mandibular gonial angle, often with relative
prognathism.
[3,8,9]
Patients may present with frequent fractures, recurrent
dental abscesses, or obstructive sleep apnea. Parental
consanguinity is recognized as a cause of this autosomal-
recessive disorder, the responsible gene being located on
chromosome 1q21. This gene encodes cathepsin K, a
cysteine proteinase that is expressed in normal osteoclasts
and is mutated in patients with pyknodysostosis.
[10,11]
Intraoral features include persistence of deciduous teeth,
with premature or delayed rupture of permanent teeth,
which can cause crowding. Teeth was misalignment
with enamel hypoplasia, and a grooved palate.
[3,8]
Dental
abnormalities was the most impressive nding in this
patient, with persistence of deciduous teeth and delayed
rupture of permanent teeth. As mentioned previously, the
follicles of these unerupted teeth may become infected,
leading to abscess formation.
[6]
Some features of pyknodysostosis overlap the
common osteopetrosis and cleidocranial dysostosis.
[2]
In cleidocranial dysostosis open fontanels and cranial
sutures are also observed at an advanced age, although
in this case, the clavicle is also involved, a bone rarely
affected in pyknodysostosis. Cleidocranial dysostosis
is transmitted by autosomal dominant inheritance,
whereas pyknodysostosis is autosomally recessive.
[12]

Bone fragility and a history of frequent fractures may suggest
the possibility of diagnosing osteogenesis imperfecta,
although the fractures are much more severe with other
associated features like choanal atresia and blue sclera.
[4]
CT findings are important in patients with cranio-
maxillofacial abnormalities of pyknodysostosis. Which
are including hypoplastic sinuses, poor dentition, and
thickening of the calvaria have been described for
osteopetrosis a similar but more common entity.
[13]
Compared with panorex radiographs, CT with
reconstructions demonstrates greater anatomic detail.
Axial imaging denes exact relationships between the
unerupted teeth, which is not possible on Panorex alone.
Coronal and sagittal reformatting facilitates interpretation
of anatomic relationships in the craniocaudal direction.
Surface rendering gives an overall perspective of the
underlying bony abnormalities, and volume rendering aids
in determining the 3D relationships among the abnormal
teeth by making the alveolar process less conspicuous.
Demonstrating the exact relationships among abnormal
teeth can aid the surgeon in planning extractions and/or
reconstructions. Also, improved visualization of cortical
bone can aid in distinguishing infected follicles and dental
abscesses from the normal well-corticated follicles of
unerupted teeth. This helps the surgeon gain a complete
understanding of the abnormal anatomy and is useful
for planning of tooth extraction and/or implantation of
prosthetics. Magnetic resonance imaging ndings in patients
with pyknodysostosis reveal normal cortical thickness in
the calvaria; however, there is increased trabecular bone
within the medullary cavity, which causes decreased marrow
signal intensity.
[14]
Now latest multislice CT scan software reformatted and
reconstructed 3D surface-shaded, volume-rendered and
inspace images demonstrated detailed anatomic and
pathologic features of the teeth and facial bones in this
patient with pyknodysostosis. Very excellent delineation
of unerupted and partially erupted teeth was obtained.
CONCLUSION
Although few cases of pyknodysostosis of cranio-
maxillofacial abnormalities were described in CT scan
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Meena, et al.: Pyknodysostosis with cleidocranial dysplasia: Computed tomography and panoramic imaging
J ournal of Oral and Maxillofacial Radiology / J anuary-April 2013 / Vol 1 | Issue 1 29
Cite this article as: Meena D, Zuber M, Pawar S, Rani S. A case report of
pyknodysostosis with cleidocranial dysplasia: Computed tomography and
panoramic imaging. J Oral Maxillofac Radiol 2013;1:25-9.
Source of Support: Nil. Conict of Interest: None declared.
modality, but presented case we were described in multislice
CT with reconstructed 3D surface-shaded, volume-
rendered and inspace images. We also described clinically
as well as panoramic studies of pyknodysostosis. The
purpose of multislice CT was to understand the complete
abnormal cranio-maxillofacial anatomy and was useful to
plan tooth extraction and/or implantation of prosthetics
as well as to know earlier changes of dental abscess and/
or carries development. Here, we also highlighted overlap
features of cleidocranial dysostosis, and dorsal kyposcolisis.
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