Waardenburg综合征1例

Waardenburg syndrome:Report of a case

报告 1例 Waardenburg综合征，具有先天性感觉神经性耳聋、特征性的蓝色虹膜、前额白发以及先天性白斑。介绍本综合征的临床诊断标准和分型，并对有关的基因突变及神经嵴分化异常作一概述。

A case with congenital sensorineural hearing loss, characterisitic blue irises, white forelock and congenital leucoderma is described as Waardenburg syndrome(WS). The diagnostic criteria and types of this syndrome are introduced. The possible gene mutations and the failure of differentiaiton in the neural crest might explain a lot.