威廉姆斯综合征(Williams syndrome,WS)是一种遗传性精神发育迟滞性疾病,该病的发病机制为7号染色体长臂近端(7q11.23)上弹性蛋白基因微缺失。本文就3例确诊的WS患者的病例资料进行报告如下,并总结了该病的临床特点及诊断方法。1病例资料病例1.患儿女,8岁。家长以“检查智商”为主诉于2014-12-27到中国医科大学附属盛京医院发育儿科门诊就诊。患儿系第2胎第2产,足月顺 Williams syndrome (WS) is a hereditary mental retardation disorder whose pathogenesis is a microdeletion of the elastin gene proximal to the long arm of chromosome 7 (7q11.23). In this paper, three cases of WS patients confirmed as follows, and summarized the clinical features of the disease and diagnostic methods. Case data 1 cases with children, 8 years old. Parents to “check IQ” as the main complaint in 2014-12-27 to Shengjing Hospital, China Medical University pediatric clinic development. The second child in the second line of children, full-term cis