Campomelic dysplasia

Definition:

Campomelic dysplasia (CD) is a rare congenital skeletal dysplasia characterized by bowing of the long bones (campomelia). It is often associated with male-to-female autosomal sex reversal. Haploinsufficiency of SOX9 gene has been reported.

References:

[1]. Young-Hoon Lee, et al. Sox9 function in craniofacial development and disease. Genesis. 2011 Apr;49(4):200-8. [Content Brief]

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