A syndrome characterized by ectodermal dysplasia, polydactyly, chondro-dysplasia and congenital morbus cordis: Report of three cases

Abstract

1. A syndrome consisting of ectodermal dysplasia affecting the hair, nails, and teeth ; polydactyly ; chondro-dysplasia, and congenital morbus cordis, is described. No detailed account of this syndrome has been found in the literature. 2. The full syndrome was observed in two children, and a third child showed all the components except hypotrichosis and congenital morbus cordis. 3. Two of the patients were females and one male. They were of English, Dutch and Jewish American race respectively. 4. In two out of-the three cases, the parents were first cousins. No similar condition had been observed amongst relatives. The condition is held to be a mendelian recessive, without sex-linkage.