Waardenburg综合征Ⅱ型1例

摘要

Waardenburg syndrome (WS) is an uncommon autosomally inherited and genetically heterogeneous disorder. The major features includes pigmentary disturbances and congenital deafness. Four subtypes of WS are recognized according to the clinical finding.A careful clinical description is needed to differentiate different types of WS and other associated diseases.%Waardenburg综合征(WS)是一种罕见的常染色体显性遗传病,其主要临床特点包括色素分布异常以及先天性耳聋.WS共分为四型,临床上需同其他疾病仔细鉴别.