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本文报告三例Laurance-Moon-Biedl综合征。本综合征至今仍根据临床表现诊断,即视网膜色素变性、肥胖、多指(趾)、性腺功能低下和智力障碍。以上五个特征都具备时,为完全型,诊断并不困难。klein氏还分有不完全型,发育不全型,不典型型,广泛型等。本文报告1例属完全型,2例属不完全型。本文结合文献还讨论了以上五个主要临床表现的出现率,临床特点以及其他少见的临床表现。本综合征的发病机制,现在多数学者倾向于是一种遗传性疾病,为常染色体隐性遗传。关于本综合征的遗传有两种假说,一是认为一个
This article reports three cases of Laurance-Moon-Biedl syndrome. The syndrome is still based on clinical diagnosis, namely, retinitis pigmentosa, obesity, multiple fingers, hypogonadism and mental retardation. The above five features are available, for the complete type, the diagnosis is not difficult. klein ’s also divided into incomplete type, hypoplasia, atypical type, extensive type and so on. This article reports 1 case is a complete type, 2 cases are incomplete type. This article also discusses the literature of the five major clinical manifestations of the incidence, clinical features and other rare clinical manifestations. The pathogenesis of this syndrome, and now most scholars tend to be a genetic disease, autosomal recessive inheritance. There are two hypotheses about the inheritance of this syndrome, one is that one