伊藤色素减退症与重度感音神经性耳聋。
Hypomelanosis of Ito and severe sensorineural deafness.
作者信息
Fryns J P, Dereymaeker A M, Van Den Berghe H
机构信息
Centre for Human Genetics, University of Leuven, Belgium.
出版信息
Genet Couns. 1992;3(3):149-51.
PMID:1388933
Abstract
In this report we describe an 8-year-old boy of Algerian origin with profound sensorineural deafness and skin pigmentation anomalies consistent with the diagnosis of hypomelanosis of Ito. On the basis of this observation the etiologic heterogeneity of this condition is discussed.
摘要
在本报告中，我们描述了一名8岁的阿尔及利亚裔男孩，他患有严重的感音神经性耳聋和皮肤色素沉着异常，符合伊藤色素减退症的诊断。基于这一观察结果，讨论了该病症的病因异质性。
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