Spondyloepiphyseal Dysplasia Congenita

Abstract Spondyloepiphyseal dysplasia congenita (SEDC) is the most common of the spondyloepiphyseal dysplasia and often presents in the prenatal period. SEDC is an autosomal dominant disorder that results from mutations in type II collagen encoded by the gene COL2A1 . Ultrasound findings include delayed ossification of the epiphyses of the long bones. The femora may appear to have an absent femoral neck. The femora and humeri can appear bowed, and the long bones of the arms and legs grow but usually measure below the 5th percentile. Sonolucency secondary to delayed ossification of the vertebral bodies may be seen, and vertebral bodies often appear flattened or small. Pierre Robin sequence and club feet can also occur.