Thursday, October 1, 2009

Cleidocranial Dysplasia

Cleidocranial dysplasia is a generalized skeletal dysplasia that was originally thought to affect only the skull and clavicles. It is characterized by:
  • Clavicle: Incomplete ossification, ranging from absence to hypoplasia
  • Skull: Wormian bones, enlarged calvaria, frontal bossing, and open fontanelles
  • Chest: Bell-shaped thorax
  • Hand: Brachydactyly with hypoplastic distal phalanges
  • Pelvis: Pelvic hypoplasia, widened pubic symphysis, coxa vara
  • Teeth: Supernumerary teeth and severe dental anomalies


Mundlos S. Cleidocranial dysplasia: clinical and molecular genetics. J Med Genet. 1999 Mar;36(3):177-82.

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