The Cardinal Manifestations of Bardet–Biedl Syndrome, a Form of Laurence–Moon–Biedl Syndrome

摘要: Abstract To determine the interfamilial and intrafamilial variation in expression of Bardet–Biedl syndrome (a form Laurence–Moon–Biedl syndrome), we looked for five recognized features disorder (retinal dystrophy, obesity, polydactyly, mental retardation, hypogonadism), plus possible renal manifestations, some or all 32 patients with this disorder. All 28 examined had severe retinal but only 2 typical retinitis pigmentosa. Polydactyly was present 18 31 patients, syndactyly, brachydactyly, both were all. Obesity 1 25 patients. Only 13 considered mentally retarded. Scores on verbal subtests intelligence usually lower than scores performance tasks. Seven eight men small testes genitalia, which not due to hypogonadotropism. 12 women studied menstrual irregularities, 3 low serum estrogen levels (1 these hypogonadotropism, primar...