幼儿Bardet-Biedl综合征1例并文献复习  

A case of infant Bardet-Biedl syndrome and literature review

作　　者：刘文晶 袁兆红[1] 尤玉慧[1] 韩启军[1] LIU Wenjing;YUAN Zhaohong;YOU Yuhui;HAN Qijun(Affiliated Hospital of Jining Medical University,Jining 272029,China)

机构地区：[1]济宁医学院附属医院,济宁272029

出　　处：《济宁医学院学报》2021年第5期378-380,共3页Journal of Jining Medical University

基　　金：济宁市科技助推新旧动能转换计划项目(2017SMNS007)。

摘　　要：Bardet-Biedl综合征(Bardet-Biedl syndrome,BBS)是一种罕见的常染色体隐性纤毛病,其特征为肥胖、轴后多指、肾脏异常、智力发育迟缓、色素性视网膜病变和生殖功能低下。该病发展缓慢,在儿童早期诊断比较罕见,因为只有很少的特征出现在儿童早期。本文报告阐明了一例仅以严重早发性肥胖为特征的BBS的临床、实验室检查及基因检测结果,以提高大家对BBS的认识。Bardet-Biedl syndrome( Bardet-Biedl syndrome,BBS) is a rare autosomal recessive ciliopathy characterized by obesity,postaxial polydactylia,renal abnormalities,mental retardation,retinitis pigmentosa,and reproductive dysfunction.The disease develops slowly and is rarely diagnosed in early childhood because few features appear in early childhood.This case report describes the clinical,laboratory and genetic results of a BBS case characterized only by severe early-onset obesity to raise awareness of BBS.

关 键 词：肥胖 发育迟缓 BARDET-BIEDL综合征 

分 类 号：R596.1[医药卫生—内科学]