Displasia campomélica. Descripción de un caso (Case report: Campomelic dysplasia)

Campomelic dysplasia is an alteration of bone development which is manifested as an autosomal dominant disease. It is characterized by femoral and tibial bowing, along with other items such as orofacial, cardiopulmonary and neurological alterations. The karyotyope results can show sex reversal. Mutations in the gene SOX9 are responsible in most of the cases for the skeletal and genital anomalies. A case of campomelic dysplasia with typical long bone bowing, identified in ECLAMC (Estudio Colaborativo Latinoamericano de Malformaciones Congénitas) is here presented and its molecular physiopathology is reviewed