Mutation analysis of SOX9 and single copy number variant analysis of the upstream region in eight patients with campomelic dysplasia and acampomelic campomelic dysplasia.

摘要

Campomelic dysplasia (CD; OMIM 114290) is a rare skeletal disorder characterized by hypoplastic scapulae, 11 pairs of ribs, pelvic abnormalities, and bowing of the lower limb bones [Maroteaux et al, 1971]. Affected patients often die shortly after birth due to respiratory distress, and roughly two-thirds of affected genetic males have disorders of sex development (DSD) due to dysgenetic testes [Mansour et al., 1995]. Acampomelic campomelic dysplasia (ACD) is associated with similar but milder skeletal features and lacks long bone curvature [MacPherson et al., 1989].