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家族性听小骨畸形:病例报告及文献综述

Familial ossicular malformations: case report and review of literature.

作者信息

Higashi K, Yamakawa K, Itani O, Togawa K

机构信息

Department of Otolaryngology, School of Medicine, Akita University, Japan.

出版信息

Am J Med Genet. 1987 Nov;28(3):655-9. doi: 10.1002/ajmg.1320280313.

Abstract

Familial middle ear ossicular anomalies are rare. We report on a daughter and her mother with congenital conductive hearing loss. Tympanotomy disclosed hypoplasia of long crus of incus whose tip had been replaced with a fibrous strand. A review suggests that middle ear ossicular anomalies may be inherited as autosomal dominant traits. Most individuals were bilaterally affected. Most isolated cases were affected unilaterally.

摘要

家族性中耳听小骨异常较为罕见。我们报告了一位女儿及其母亲患有先天性传导性听力损失的病例。鼓膜切开术显示砧骨长脚发育不全,其尖端被纤维束所替代。一项综述表明,中耳听小骨异常可能作为常染色体显性性状遗传。大多数个体为双侧受累。大多数孤立病例为单侧受累。

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