A Hereditary Factor in Chondrodystrophia Calcificans Congenita

CHONDRODYSTROPHIA calcificans congenita is a rare congenital condition diagnosed by the radiologic demonstration of multiple punctate calcine epiphysial deposits in an infant who may also have one or more of a variety of other defects. The observation of this rare disease in 2 siblings led us to consider the possibility that it was hereditary, and an analysis of the available family data in the literature was therefore undertaken from this point of view.CharacteristicsThe disease was first described by Conradi,1 who considered it a form of chondrodystrophia fetalis hypoplastica. It was named chondrodystrophia calcificans congenita by Hünermann2 and has . . .