[瓦登伯革氏综合征]

[Waardenburg syndrome].

作者信息

Li D, Ma Q, Chen Y, Zeng L

机构信息

National Ophthalmological Laboratories, Ministry of Public Health, China.

出版信息

Yan Ke Xue Bao. 1991 Dec;7(4):196-8, 171.

PMID:1844076

Abstract

We report a patient with Waardenburg syndrome. He suffers from congenital deafness and presents high broad nasal root, synophrys, iris heterochromia and fundus hypopigment. The dystopia canthus is absence. In his family pedigree analysis, we found that his second cousin has oculocutaneous albinism.

摘要

我们报告了一名患有瓦登伯革氏综合征的患者。他患有先天性耳聋，表现为高宽鼻梁、连眉、虹膜异色和眼底色素减退。内眦异位缺失。在对其家族谱系分析中，我们发现他的二表弟患有眼皮肤白化病。