Familial syndrome of mental retardation, short stature, contractures of the hands, and genital anomalies.
Two teen-age XY brothers with mental retardation, short stature, obesity, genital abnormalities, and contractures of their hands are described. They have generalized osteoporosis and a history of frequent fractures. Their endocrinologic evaluation was normal except for mild glucose intolerance and delayed, but normal puberty. Although these brothers are similar to individuals with Prader-Willi syndrome, their unusual hand contractures, clinically significant osteoporosis, and lack of hypotonia indicate that they represent a different entity.
D000293:Adolescent; D000328:Adult; D001827:Body Height; D003286:Contracture / Q000235:genetics*; D005837:Genitalia, Male / Q000002:abnormalities*; D006225:Hand; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D010024:Osteoporosis / Q000235:genetics; D013577:Syndrome