Two cases of spondyloepiphyseal dysplasia congenital

Abstract

 Spondyloepiphyseal dysplasia congenital is caused by mutation in the type 2 collagen gene（COL2A1）, characterized by short stature and skeletal anomalies. Children with SEDC often have retinal degeneration, hearing issue and cleft palate. We report two cases of neonates who have short stature, cleft palate and hearing issue. Both of them have mutation in the COL2A1（case1: c.3589G>A, p.Gly1197Ser, case2: c.3400 G>A, p.Gly1134Ser）Skeletal anomalies are difficult to diagnose before birth. Severity is different individual. Comprehensive diagnosis involving clinical features, radiologic signs and genetic testing, appropriate treatment, and cooperation with other departments are necessary.