Pigmentary Anomalies and Hearing Loss
Pigmentary Anomalies and Hearing Loss
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DOI：
10.1159/000322471
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发表时间：
2011-01-01
期刊：
影响因子：
--
通讯作者：
Toriello, Helga V.
中科院分区：
文献类型：
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作者：
Toriello, Helga V.
许多表型中包括听力损失的综合征也有色素异常作为其组成表现。其中最常见的一种是瓦登堡综合征，其表型包括色素沉着不足和感音神经性听力损失。瓦登堡综合征有四种类型，通过临床表现可以相互区分。然而，还有一些其他综合征，不仅包括表型中的色素沉着不足，还包括色素沉着过度。本文对许多此类综合症进行了回顾。版权所有 (C) 2011 S. Karger AG，巴塞尔
A number of syndromes that include hearing loss in the phenotype also have pigmentary anomalies as a component manifestation. One of the most common of these is Waardenburg syndrome, which includes hypopigmentation and sensorineural hearing loss in the phenotype. There are four types of Waardenburg syndrome, distinguishable from each other by clinical findings. However, there are several other syndromes which include not only hypopigmentation, but also hyperpigmentation in the phenotype. This paper serves as a review of many of these syndromes. Copyright (C) 2011 S. Karger AG, Basel