Cardio-cutaneous syndrome (the "LEOPARD" syndrome). Review of the literature and a new family.
Numerous reports of familial cardiac disorders associated with abnormalities of cutaneous pigmentation have appeared in the literature. In some of these there have been other somatic malformations including retardation of growth and anomalous development of the genitalia. In this paper we review the literature and describe another family with multiple lentigines occurring in six members out of eight examined. They were reported to occur in 10 other members not seen by us. The trait showed an autosomal dominant mode of inheritance and appeared to be transmitted by affected fathers. In previous reports transmission has usually been through an affected mother. In five of the six 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.
D000293:Adolescent; D000328:Adult; D002648:Child; D003394:Craniofacial Dysostosis / Q000235:genetics*; D003638:Deafness / Q000235:genetics*; D005260:Female; D005835:Genitalia / Q000002:abnormalities*; D006130:Growth Disorders / Q000235:genetics*; D006330:Heart Defects, Congenital / Q000235:genetics*; D006801:Humans; D006972:Hypertelorism / Q000235:genetics*; D007911:Lentigo / Q000235:genetics*; D008297:Male; D010375:Pedigree; D011666:Pulmonary Valve Stenosis / Q000235:genetics*; D013577:Syndrome