Cornelia de Lange 综合征研究进展

摘要

Cornelia de Lange 综合征是一种1933年首次报道的罕见的先天性疾病。Cornelia de Lange综合征常涉及多器官的发育异常。临床表现为严重的生长迟缓、认知障碍、具有特征性的面容和上肢缺陷。随着医学科学特别是遗传学、分子生物学的迅猛发展，对 Cornelia de Lange 综合征的病因、发病机制等已有更深入的研究，该文就近年来的研究进展进行综述。%Cornelia de Lange syndrome is a rare congenital disease,which was firstly reported on 1933.It usually causes multiple organs dysplasia.Clinical manifestations include severe growth retardation,cogni-tive impairment,characteristic facial and upper limb defects.With the rapid development of medical science,es-pecially in genetics and molecular biology,much research on the pathogenesis of Cornelia De Lange syndrome has been performed.Herein,we review the progress in this rare disease in recent years.