Osteochondrodysplasia of type campomelic dysplasia Osteocondrodisplasia de tipo displasia campomélica

Abstract

Campomelic dysplasia (CD) is a type of osteochondrodysplasia or disorder of skeletal development with autosomal dominant inheritance. It is characterized by angulation of the limbs along with cardiopulmonary, orofacial and neurological alterations. Mutations involving the SOX9 gene are responsible for CD in most affected individuals. A case of CD is presented in a boy born at 24 weeks of gestational age to a 22-year-old mother.