Prader-Willi综合征临床表型分析  

The analysis of Prader-Willi syndrome clinical phenotype

作　　者：陈晓春[1,2] 何玺玉[1] 詹实娜[1] 王春枝[1] 王艳[1] 杨尧[1] 刘欣[1] 吴虹林[1] 

机构地区：[1]北京军区总医院附属八一儿童医院遗传科,北京100700 [2]安徽医科大学研究生学院,合肥230032

出　　处：《发育医学电子杂志》2013年第1期50-53,共4页Journal of Developmental Medicine (Electronic Version)

摘　　要：目的总结Prader-Willi综合征(PWS)患儿儿童期的临床表现,为临床医师诊断提供依据。方法回顾性分析我院2009年至2012年收治的11例Pws患儿的病例资料。结果皮肤色素减退和外生殖器发育不全在PWS患儿整个婴幼儿发育阶段均存在.肌张力低下(82%)、喂养困难(73%)在早期表现明显,而智力/运动发育迟缓(64%)随年龄增长逐渐明显,行为异常、食欲亢进、肥胖在儿童及青春期表现明显。结论熟悉PWS患儿各年龄段临床特征可为早期临床诊断和综合管理提供帮助。Objectives To summarize the clinical manifestations of childhood with prader-willi syndrome(PWS).Methods Clinical data of ll patients with PWS in our hospital from 2008 to 2012 were reviewed retrospectively.Results The study showed that the skin pigment decline and genitalia hypoplasia existed through all the infant developmental stage,low muscle tension(82%),feeding difficulties(73%)performed significantly in the early,and along with the age gradually intelligence/sports retardation(64%)became obviously,behavior anormaly,appetite hyperthyroidism,obesity performed in children and adolescence.Conclusion Understanding of each stage clinical features of children with PWS,to provide the early and comprehensive management for clinical physician.

关 键 词：PRADER-WILLI综合征 临床表型 儿童 

分 类 号：R725.9[医药卫生—儿科]