儿童Williams-Beuren综合征九例临床分析  

Clinical Analysis of 9 Cases of Pediatric Williams-Beuren Syndrome

作　　者：黄琴蓉[1] 肖农[1] 陈玉霞[1] 刘玲[1] 江伟[1] 侯雪勤[1] 冯英[1] 张婷[1] HUANG Qin-rong,XIAO Nong,CHEN Yu-xia,LIU Ling,JIANG Wei,HOU Xue-qin,FENG Ying,ZHANG Ting(Department of Rehabilitation,Childern＇s Hospital of Chongqing Medical University/Ministry of Education Key Laboratory of Child Development and Disorders/Chongqing Key Laboratory of Translational Medical Research in Cognitive Development and Learning and Memory Disorders,Chongqing 400014,Chin)

机构地区：[1]重庆医科大学附属儿童医院康复科儿童发育疾病研究教育部重点实验室认知发育与学习记忆障碍转化医学重庆市重点实验室,重庆市400014

出　　处：《中国全科医学》2018年第18期2238-2241,共4页Chinese General Practice

基　　金：2016年重庆科技计划项目(Y2016010037)

摘　　要：本文选取2016年3月—2017年2月重庆医科大学附属儿童医院收治的9例Williams-Beuren综合征患儿为研究对象,对其临床资料进行回顾性分析,发现儿童Williams-Beuren综合征的高危因素包括母亲孕期感冒、羊水异常、足月小样儿、孕期过长、剖宫产、前置胎盘及宫内发育迟缓。患儿均有特殊面容,且生长、智力、运动及语言均发育迟缓。肌张力异常4例,癫痫4例,高血钙症状3例;合并先天性心脏病7例。颅脑MRI检查结果异常2例,腰骶部MRI检查结果异常1例,消化系统异常1例,颅缝早闭8例,行为异常6例。综上,儿童Williams-Beuren综合征高危因素较多,且患儿临床特点较为多样,应引起重视。We retrospectively analyzed the clinical data from 9 children with Williams-Beuren syndrome who were admitted to the Children＇s Hospital of Chongqing Medical University from March 2016 to February 2017.The risk factors for pediatric Williams-Beuren syndrome included cold in pregnancy,amniotic fluid abnormalities,MLBW infants,long pregnancy,cesarean section,placentaprevia.All 9 patients had a special appearance,and the growth and development of intelligence andmotor and language abilities were slow.There were 4 cases with dystonia,4 with epilepsy and 3 with hypercalcemia.Seven cases were complicated with congenital heart disease.Two cases had abnormal head magnetic resonance imaging（MRI）findings,and abnormal lumbosacral MRI occurred in 1 case.Moreover,1 case had digestive system abnormality,cranial suture early closure was found in 8 cases,and 6 cases showed abnormal behavior.Therefore,pediatric Williams-Beuren syndrome is associated with multiple risk factors,and patients exhibit diverse clinical features.The disease should be given adequate attention.

关 键 词：威廉斯综合征 儿童 发育障碍 肌张力 

分 类 号：R542.52[医药卫生—心血管疾病]