Chorioretinal dysplasia-microcephaly-mental retardation syndrome: Report of an American family

Recently we evaluated an American family with the chorioretinal dysplasia- microcephaly-mental retardation syndrome (CDMMS, McKusick 156590). The male- to-male transmission observed for the first time in the family of this report confirms autosomal dominant inheritance. Analysis of our cases and review of the literature illustrates the variable expressivity of this disorder and demonstrates the need for careful ophthalmologic evaluations of at-risk relatives in order to provide accurate recurrence risks.