Revision 30 for 'Cleidocranial dysostosis'

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Cleidocranial dysostosis

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

Pathology

It is rare polyostotic skeletal dysplasia caused by mutation in CBFA1 gene in AD inherited or sporadic mutation pattern (in approximately 40%) which is characterized by incomplete intramembranous ossification of midline 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
Pelvis
Limbs

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