Konno P, Silm H
Tallinn Hospital of Skin Diseases, Estonia.
J Eur Acad Dermatol Venereol. 2001 Jul;15(4):330-3.
Waardenburg syndrome (WS) is caused by autosomal dominant mutations, and is characterized by pigmentary anomalies and various defects of neural crest derived tissues. We report a very interesting case of type 1 WS (WS 1) in an adult who presented all the symptoms characteristic of this syndrome. One particularly important clinical feature of WS is congenital hearing loss, which may severely handicap a child. A careful clinical description is useful to differentiate between various types of WS and other associated auditory-pigmentary syndromes. Type WS 1, characterized by dystopia canthorum, is caused by loss of function mutations in the PAX3 gene.
瓦登伯革氏综合征（WS）由常染色体显性突变引起，其特征为色素异常以及神经嵴衍生组织的各种缺陷。我们报告了一例非常有趣的成年1型WS（WS 1）病例，该患者呈现出该综合征的所有典型症状。WS的一个特别重要的临床特征是先天性听力丧失，这可能会严重妨碍儿童。仔细的临床描述有助于区分各种类型的WS和其他相关的听觉色素综合征。以内眦异位为特征的WS 1型是由PAX3基因的功能丧失突变引起的。
