目的探讨Cornelia de Lange综合征(CdLS)的临床表型及基因型特点。方法回顾分析1例确诊CdLS患儿的临床资料,并总结分析国内已报道......

Partial duplication of chromosome 3q is a recognizable syndrome with characteristic facial features, microcephaly, digit......

Cornelia de Lange综合征(CdLS)是一种以严重神经发育障碍为主要表现的遗传综合征,临床表现为智力障碍、典型的面部特征、宫内和生......

We report a case of cecal volvulus in an 11-year-old girl who had been diagnosed with Cornelia de Lange syndrome. She ha......