多指(趾)-肥胖-肾-眼综合征2例并文献复习分析  

The meta-analysis of Laurance-Moon-Bardet-Biedl syndrome.

作　　者：杨毅华[1] 倪伟锋[1] 陈慎仁[1] 杨贤明 

机构地区：[1]汕头大学医学院第二附属医院内分泌科,广东汕头515041 [2]汕头市第三医院,广东汕头515073

出　　处：《中国实用内科杂志：临床前沿版》2006年第6期931-933,共3页

摘　　要：目的总结Laurance-Moon-Bardet-Biedl综合征(LMBBS)(多指-肥胖-肾-眼综合征)的发病情况及临床表现,并与国外文献报道进行比较。以提高临床医生对该综合征的认识。方法对1987—2003年对汕头大学医学院附属第二医院的2例LMBBS报告,以及国外462例、国内94例文献,进行分析。结果LMBBS有较高的血缘率及阳性家族史,视网膜色素变性、智力低下、肥胖、性发育不良和多指(趾)畸形五大主症,临床表现复杂多变。结论应避免近亲结婚。国外新近提出的诊断标准及调查方法,有利于患者儿童期的早期诊断。Objective To deepen the clinicians＇ impression on the Laurance - Moon - Bardet - Biedl syndrome （ LMBBS）, we made a summary in the incidence and clinical manifestations of the disease in China comparing with foreigners. Methods We made evidence - based meta - analysis about the 2 cases reports in 1987 and 2003 in our hospital and literature review of 462 cases in foreign countries and 94 cases in China. Results LMBBS patients, with more frequency of consanguinity and family history, retinal dystrophy, mental retardation, obesity, polydactyly, hypogenitalism, often had many complicated and variable clinical manifestations. Conclusion To avoid intrafamiliy marriage would reduce the incidence rate. The diagnostic criteria and ascertainment methods introduced recently do benefit the early diagnosis in their childhood period.

关 键 词：Laurance—Moon—Bardet—Biedl综合征 荟萃分析 诊断 

分 类 号：R5[医药卫生—内科学]