A 15 year old girl presented with one episode of generalized tonic clonic seizure. She gave history of learning disabilities, recurrent upper respiratory tract infections and mild hearing disability. On examination, she had excessive mobility at the shoulder joints; she also had a prominent genu valgum. She was detected to have mild conductive deafness. The anterior fontanelles were open. Neither of the clavicles was palpable.

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A CT scan of the brain performed to evaluate her fits showed multiple Wormian bones. Parietal, frontal & occipital bone bossing was present along with a globular appearance of skull. The cranial sutures were open. The anterior fontanellae was open. No focal lesion was detected within the brain parenchyma

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DISCUSSION:

These clinical and radiological features are classical of Craniocliedal dysostosis. The syndrome is familial and transmitted as an autosomal dominant trait. Several chromosome abnormalities have been reported to be associated with this syndrome, including rearrangement of the long arm of chromosome 8 (8q22) and the long arm of chromosome 6.

Characteristics include:

Head and neck: Brachycephaly with bossing of the frontal, parietal, and occipital bones which gives rise to a large globular appearance of the head with a small face because of the smallness of the maxillary and zygomatic bones and relative prognathism. Other abnormalities include open fontanels; open cranial sutures; calvarial thickening in the supraorbital part of the bone, squama of the temporal bones, and the occipital bone; Wormian bones filling suture lines, occasional absence of the parietal bones, faulty development of the foramen magnum and dysplasia of the paranasal sinuses and mastoids may also be present.

Eyes: Hypertelorism

Nose: Broad nose with depressed bridge

Mouth and oral structures: High arched palate, cleft palate, delayed union of the mandibular symphysis, delayed tooth eruption, dental root and crown abnormalities, crypt formation around impacted teeth and ectopic teeth.

Neck: Long neck

Thorax: Narrow chest, drooping shoulders and unilateral or bilateral absence of the clavicles.

Pelvis: Delayed closure of wide symphysis pubis.

Hand and foot: Pseudoepiphyses at the base of the metacarpal bones, abnormal phalangeal tufts of the hands and feet, short middle phalanges of the fifth fingers, and cone-shaped epiphyses of the distal phalanges.

Extremities: Coxa vara, coxa valga, and notching capital femoral epiphysis.

Spine: Spina bifida, syringomyelia, and spondylolysis.

Respiratory system: Occasional respiratory distress.

Growth and development: Retarded growth with delayed bone maturation and mental retardation in some cases.

Behavior and performance: Conduction deafness.

Treatment:

Children with CCD should be monitored closely for orthopedic complications, upper airway breathing complications and ear infections. In addition, formal hearing evaluations should be performed starting in early childhood. Finally, pregnant women with CCD should be monitored closely for cephalopelvic disproportion, which may necessitate Cesarean-section delivery.

The absence of clavicles, presence of open fontannles and Wormian bones help distinguish this syndrome from other similar dysplasias such as Osteopetrosis and Pyknodysostosis.