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
来源：
ARCHIVES OF OTOLARYNGOLOGY-HEAD & NECK SURGERY | 1997年 / 123卷 / 01期
关键词：
D O I：
暂无
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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