Multiple lentigines syndrome. Case report and review of the literature.
The multiple lentigines syndrome is reviewed and a new case is presented. The major features of this syndrome are lentigines and other cutaneous abnormalities, cardiac defects, meurologic defects, cephalofacila dysmorphism, shortness of stature, skeletal anomalies, genitourinary abnormalities, and a family history consistent with an autosomal dominant mode of inheritance. The multiple lentigines syndrome manifests markedly variable expressivity; no single finding is pathognomonic and few patients have all major features. We propose specific criteria for diagnosis.
D000293:Adolescent; D004702:Endocrine Glands / Q000503:physiopathology; D005799:Genes, Dominant; D005837:Genitalia, Male / Q000002:abnormalities; D006330:Heart Defects, Congenital / Q000235:genetics*; D006801:Humans; D008297:Male; D009422:Nervous System Diseases / Q000235:genetics; D011666:Pulmonary Valve Stenosis / Q000235:genetics; D013577:Syndrome