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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.

DOI:10.1002/ajmg.1320280313
PMID:3322009
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。

相似文献

1
Familial ossicular malformations: case report and review of literature.家族性听小骨畸形:病例报告及文献综述
Am J Med Genet. 1987 Nov;28(3):655-9. doi: 10.1002/ajmg.1320280313.
2
Hereditary isolated ossicular anomalies in two generations of patients.两代患者的遗传性孤立性听小骨异常。
Auris Nasus Larynx. 2011 Feb;38(1):114-8. doi: 10.1016/j.anl.2010.06.003. Epub 2010 Aug 19.
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Conductive hearing loss, middle ear ossicular anomalies, malformed thickened lop auricles, and micrognathia. A rare autosomal dominant congenital syndrome.传导性听力损失、中耳听小骨异常、耳廓畸形增厚及小颌畸形。一种罕见的常染色体显性先天性综合征。
Am J Otol. 1984 Jul;5(5):387-91.
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An autosomal dominant inherited syndrome with congenital stapes ankylosis.一种伴有先天性镫骨固定的常染色体显性遗传综合征。
Laryngoscope. 1990 Apr;100(4):380-4. doi: 10.1288/00005537-199004000-00009.
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Congenital ossicular abnormalities: a review of 68 cases.先天性听小骨异常:68例病例回顾
Am J Otol. 1988 Jan;9(1):76-80.
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Autosomal dominant inheritance of conductive deafness due to stapedial anomalies, external ear malformations and congenital facial palsy.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。
Clin Genet. 1983 May;23(5):376-9. doi: 10.1111/j.1399-0004.1983.tb00449.x.
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Bilateral congenital cholesteatomas associated with ossicular anomalies: a case report.双侧先天性胆脂瘤伴听小骨异常:一例报告
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Autosomal dominant atresia of the auditory canal and conductive deafness.常染色体显性遗传性耳道闭锁与传导性耳聋
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A distinct dominant form of microtia and conductive hearing loss.一种明显的小耳畸形和传导性听力损失的显性形式。
Birth Defects Orig Artic Ser. 1982;18(3B):211-6.
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Anomalies of the middle ear.中耳异常
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引用本文的文献

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A Peculiar Case of Ossicular Chain Fixation and Enlarged Vestibular Aqueduct.一例罕见的听骨链固定合并前庭导水管扩大病例。
Children (Basel). 2023 Feb 11;10(2):360. doi: 10.3390/children10020360.
2
Possible autosomal recessive inheritance of progressive hearing loss with stapes fixation.镫骨固定性进行性听力损失可能为常染色体隐性遗传。
J Med Genet. 1996 Jul;33(7):597-9. doi: 10.1136/jmg.33.7.597.