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