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由于镫骨异常、外耳畸形和先天性面瘫导致的传导性耳聋的常染色体显性遗传。

Autosomal dominant inheritance of conductive deafness due to stapedial anomalies, external ear malformations and congenital facial palsy.

作者信息

Sellars S, Beighton P

出版信息

Clin Genet. 1983 May;23(5):376-9. doi: 10.1111/j.1399-0004.1983.tb00449.x.

Abstract

Three siblings of Indian stock had profound bilateral conductive deafness with variable malformations of the external ears, stapedial abnormalities and facial paralysis. Their mother was similarly affected and inheritance of this private syndrome is evidently autosomal dominant. Some improvement of auditory function was obtained by surgical intervention in the middle ear.

摘要

三名印度血统的兄弟姐妹患有严重的双侧传导性耳聋,伴有外耳畸形、镫骨异常和面瘫,且程度不一。他们的母亲也有类似症状,这种罕见综合征显然是常染色体显性遗传。通过中耳手术干预,听觉功能有了一定改善。

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