Liu X, Newton V, Read A
Centre for Audiology, Education of the Deaf and Speech Pathology, University of Manchester.
J Laryngol Otol. 1995 Feb;109(2):96-100. doi: 10.1017/s002221510012938x.
Thirty families in which there were 149 individuals affected by the Waardenburg syndrome (WS) were investigated for penetrance of hearing loss and pigmentary abnormalities. Twenty two families contained 89 individuals affected by WS Type II and eight families with 60 individuals affected by Type I. A bilateral symmetrical sensorineural hearing loss was found to be the most common type of hearing loss. The most frequent degree of hearing loss category was a hearing loss of > 100dB HL with no difference between syndrome types. Although there was no significant difference in the frequency of pigmentation disorders between Type I and II, considering these abnormalities as a whole, heterochromia irides was more common in Type II than Type I and other pigmentation disorders were more frequent in Type I: 62 per cent of Type I patients had more than one pigmentary defect, but only 28 per cent of Type II. Pigmentary disturbances were not significantly more frequent in the hearing impaired group than in the normally hearing group in either Type I or II when taking into account the occurrence of only one pigmentation disorder. There was a significantly higher proportion of pigmentary defects in the hearing impaired group with Type I when only those having more than one pigmentary abnormality were compared: 93.3 per cent of Type I patients and 88.5 per cent of Type II patients with a profound hearing loss had pigmentary defects. The frequency of pigmentation disorders was not greater when the hearing loss was more severe in either type. Penetrance for hearing loss and pigmentary abnormalities showed marked intrafamilial and interfamilial variation.
对30个家庭进行了研究，这些家庭中有149人患有瓦登伯革氏综合征（WS），研究内容为听力损失和色素异常的外显率。22个家庭中有89人患有II型WS，8个家庭中有60人患有I型WS。双侧对称性感音神经性听力损失被发现是最常见的听力损失类型。听力损失最常见的程度类别是听力损失>100dB HL，综合征类型之间无差异。虽然I型和II型色素沉着障碍的发生率没有显著差异，但将这些异常作为一个整体来看，虹膜异色症在II型中比I型更常见，其他色素沉着障碍在I型中更频繁：62%的I型患者有不止一种色素缺陷，但II型患者中只有28%。当仅考虑一种色素沉着障碍的发生时，I型或II型中听力受损组的色素沉着障碍并不比听力正常组更频繁。当仅比较那些有不止一种色素异常的患者时，I型听力受损组中色素缺陷的比例显著更高：93.3%的I型重度听力损失患者和88.5%的II型患者有色素缺陷。在任何一种类型中，听力损失越严重，色素沉着障碍的发生率并不越高。听力损失和色素异常的外显率显示出明显的家族内和家族间差异。
