Progress in cornelia de lange syndrome
10.3760/cma.j.issn.1673-4408.2016.02.003
- VernacularTitle:Cornelia de Lange 综合征研究进展
- Author:
Yemei SONG
;
Chaochun ZOU
- Publication Type:Journal Article
- Keywords:
Cornelia de Lange syndrome;
Pathogenesis
- From:
International Journal of Pediatrics
2016;43(2):97-100
- CountryChina
- Language:Chinese
-
Abstract:
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.
