MEDICAL

BOWING OF THE FEMUR, SEX REVERSAL, AND HYPOPLASTIC SCAPULAE ARE FEATURES OF

  • A. Campomelic dysplasia ✓
  • B. Diastrophic dysplasia
  • C. Thanatophoric dysplasia
  • D. Kniest syndrome
  • E. Achondrogenesis

 

Campomelic dysplasia is a rare genetic disorder that affects skeletal development. It is characterized by various skeletal abnormalities, including bowing of the femur, sex reversal (where individuals with male chromosomes develop female genitalia), and hypoplastic scapulae (underdeveloped shoulder blades). These features are key diagnostic criteria for Campomelic dysplasia.

The condition is caused by mutations in the SOX9 gene, which plays a critical role in early skeletal development. Campomelic dysplasia can have serious implications for affected individuals, leading to issues with bone formation, respiratory problems, and other health complications.