儿童Williams-Beuren综合征九例临床分析

摘要

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.%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.