威廉姆斯综合征5例临床分析

Clinical analysis of 5 cases of Williams syndrome

目的对5例威廉姆斯综合征(WS)患儿的临床资料及致病基因携带情况进行回顾性及总结分析,以期提高临床医师对本病的认识。方法选取首都医科大学附属北京儿童医院保定医院内分泌科诊治的5例威廉姆斯综合征患儿为研究对象,收集患儿的临床资料,运用全基因组CNV检测技术进行分析协助遗传学诊断。结果5例患儿中,男3例,女2例。年龄介于59天至4岁11月之间。4例患儿存在特殊面容,另外1例为男孩,59天,尚无明显特殊面容表现。5例患儿心脏彩超均提示以主动脉瓣上狭窄、肺动脉狭窄异常为主的心脏结构异常。4例患儿存在体格、智力发育落后,另外1例因年龄小,体格、智力发育有待随诊。3例男孩均存在腹股沟斜疝,2例女孩均无斜疝表现。其中1例存在甲状腺功能低下及高钙血症,血钙最高2.77 mmol/L。1例存在肾脏结石。1例患儿存在先天性肥厚性幽门狭窄。遗传学检查结果显示:5例患儿均存在7q11.23区域不同程度的基因片段脱失。结论威廉姆斯综合征因7q11.23区域基因片段缺失程度的不同,临床表现复杂多样。主要表现包括“小精灵”样特殊面容、先天性心血管畸形、智力低下、生长发育障碍以及内分泌异常等。在WS诊断过程中,依据Lowery评分法和美国儿科学诊断评分法,较易做出临床诊断。遗传学检测有助于进一步协助确诊。

Objective To retrospectively and summarily analyze the clinical data and pathogenic gene carrying status of 5 children with Williams syndrome,in order to improve clinicians’awareness of this disease.Methods Five children with Williams syndrome treated in the Department of Endocrinology of Baoding Hospital(Beijing Children’s Hospital of Capital Medical University)were selected,the clinical data of children were collected,and whole genome CNV detection technology was used to assist in genetic diagnosis.Results Among the 5 cases,3 were males and 2 were females.Their age ranged from 59 days to 4 years and 11 months.Four children had special facial manifestations,and the other one was male,59 days,with no obvious special facial manifestations.The color Doppler ultrasound of the hearts of 5 children all showed abnormal cardiac structures,mainly aortic valve stenosis and pulmonary artery stenosis.Four children had backward physical and intellectual developments,and the other one needed to be followed with physical and intellectual developments due to his young age.All three boys had oblique inguinal hernia and two girls had no oblique hernia.One of them had hypothyroidism and hypercalcaemia,with a highest blood calcium of 2.77 mmol/L.One had a kidney stone.One had a congenital hypertrophic pyloric stenosis.Genetic examination results showed that all 5 children had different degrees of gene fragment deletion in 7q11.23 region.Conclusion Williams syndrome has complex and diverse clinical manifestations due to the degree of gene deletion in 7q11.23 region.The main manifestations include“elf”like special face,congenital cardiovascular malformations,mental retardation,growth and development disorders and endocrine abnormalities.In the process of WS diagnosis,it is easier to make clinical diagnosis based on Lowery scoring method and American pediatrics diagnostic score method.Genetic testing can help further assist in diagnosis.