Congenital conductive hearing loss in the lacrimoauriculodentodigital syndrome

被引:0
|
作者
Ensink, RJH [1 ]
Cremers, CWRJ [1 ]
Brunner, HG [1 ]
机构
[1] UNIV NIJMEGEN HOSP, DEPT HUMAN GENET, NL-6500 HB NIJMEGEN, NETHERLANDS
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中图分类号
R76 [耳鼻咽喉科学];
学科分类号
100213 ;
摘要
An inherited middle ear anomaly that was causing hearing impairment in a 12-year-old girl was treated successfully by a stapedotomy combined with a malleovestibulopexy. Cup-shaped ears, abnormal or absent thumbs, and skeletal deformities of the forearms were present in several members of 3 generations of a family. An autosomal dominant pattern of inheritance was recognized. These features are present in a number of previously described syndromes, but they correspond best with the lacrimoauriculodentodigital syndrome.
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页码:97 / 99
页数:3
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