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Laurence-Moon-Biedl综合征(以下简称LMBS)是一个少见的常染色体遗传性疾病。到目前为止,全世界报告500余例,国内仅报告11例。最近我们收治了一例,现报告如下,并作文献复习。病历摘要男,11岁,住院号53130。第二胎第二产,妊娠分娩过程正常。出生后开始肥胖,以后渐加重。入院时体重45kg,身高134cm。5个月时发现病儿看不见东西,在眼科医院诊断为“先天性远视,散光”配镜+950°。智力较差,至今只会计算20以内的加减法。
Laurence-Moon-Biedl syndrome (hereinafter referred to as LMBS) is a rare autosomal genetic disease. So far, more than 500 cases have been reported in the world and only 11 cases reported in China. We recently admitted a case, the report is as follows, and review the literature. Medical summary Male, 11 years old, hospital number 53130. Second child second birth, normal pregnancy and childbirth. Began to become obese after birth gradually increased. Admission weight 45kg, height 134cm. 5 months found sick children can not see things, diagnosed in the ophthalmic hospital as “congenital hyperopia, astigmatism” glasses + 950 °. Mental retardation, so far only calculated less than 20 addition and subtraction.