Revision 26 for 'Cleidocranial dysostosis'

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Cleidocranial dysostosis

Cleidocranial dysostosis (CCD) is a skeletal dysplasia with predominant membranous bone involvement. It carries an autosomal dominant inheritance 4.

Pathology

It is characterized by incomplete ossification of skeletal structures inclusive of the clavicle as well as defective development of the pubic bones, vertebral column, and long bones 5.

Clinical features

  • large head, with large fontenelles with delayed closure
  • broad mandible
  • supernumerary teeth
  • high arched palate
  • neonatal distress due to thorax being narrowed and bell shaped
  • excessively mobile shoulders
  • may have genu valgum and short fingers

Radiographic features

Plain film
Skull
Chest
  • hypoplasia / aplasia of lateral clavicle (absent clavicles): may have two separate hypoplastic segments 5
  • supernumerary ribs
  • hemivertebrae with spondylosis
  • small and high scapulae
Pelvis
Limbs

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