Evidence for Ritscher-Schinzel syndrome in Canadian Native Indians

Abstract

We report on 8 (3 male, 5 female) native Canadian children with distinctive facial appearance and variable combinations of ocular colobomas, hypertelorism, macrocephaly, hand anomalies, congenital heart defects, structural CNS posterior fossa malformations, and mental retardation. These 8 children belong to 7 families; 3 of the families are related. The parents and other sibs are clinically unaffected. We think these manifestations provide evidence for Ritscher-Schinzel syndrome in native Canadian children, and we have confirmed that ocular colobomas are a common occurrence in this disorder.