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

References

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