Renal cystic dysplasia, paucity of bile ducts, situs inversus, bowing of the femora in two siblings in the Reunion Island: a ciliopathy?

摘要

We report two siblings presenting with a lethal condition with multiple congenital anomalies, including renal cyst dysplasia, paucity of bile ducts, situs inversus and angulated femora. This condition has similar characteristics to hepato-renal fibrocystic syndromes, mostly Ivemark syndrome, Cumming syndrome and Jeune asphyxiating thoracic dysplasia (Johnson et al, 2003).