科茨病、视乳头巨大症和科妮莉亚·德·朗格综合征。

Coats' disease, megalopapilla and Cornelia de Lange syndrome.

作者信息

Barakat Mark R, Traboulsi Elias I, Sears Jonathan E

机构信息

Cleveland Clinic Foundation, Cleveland Clinic, Cole Eye Institute, Cleveland, Ohio 44195, USA.

出版信息

Ophthalmic Genet. 2009 Jun;30(2):106-8. doi: 10.1080/13816810902744613.

DOI:10.1080/13816810902744613

PMID:19373684

Abstract

Cornelia de Lange syndrome (CdLS), a congenital disorder characterized by growth and mental retardation, hirsutism, and skeletal and cardiac anomalies, has been associated with a number of ophthalmic abnormalities including synophrys, long eyelashes, myopia, nasolacrimal duct obstruction, and ptosis. Only one case of Coats' disease has been described in the setting of this syndrome.(1) We describe a second case of Coats' disease in a five-year-old boy with this condition.

摘要

科妮莉亚·德朗热综合征（CdLS）是一种先天性疾病，其特征为生长发育迟缓、智力障碍、多毛症以及骨骼和心脏异常，还与多种眼部异常有关，包括连眉、长睫毛、近视、鼻泪管阻塞和上睑下垂。在该综合征背景下仅报道过1例科茨病。(1) 我们在此报告1例患有该综合征的5岁男孩并发科茨病的病例。