Cardio‐cutaneous syndrome (the “LEOPARD” syndrome). Review of the literature and a new family

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Abstract
Numerous reports of familial cardiac disorders associated with abnormalities of cutaneous pigmentation have appeared in the literature. In some there have been other somatic malformations including retardation of growth and anomalous development of the genitalia. The literature is reviewed and a family with multiple lentigines occurring in 6 members out of 8 is examined. They were reported to occur in 10 other members not seen. The trait showed an autosomal dominant mode of inheritance and appeared to be transmitted by affected fathers. Transmission has usually been through an affected mother. In 5 of the 6 patients examined, only skin abnormalities were detected, but in the propositus the lentigines were associated with retardation of growth, hypertelorism, abnormal genitalia and complete atrioventricular block. The possible explanations for the lack of pleomorphy in other members of the family are discussed.