Mohr-Tranebj?rg综合征1例及文献复习

黄玉宇; 杨军

doi:10.13201/j.issn.1001-1781.2019.09.012

Mohr-Tranebj?rg综合征1例及文献复习

黄玉宇,
杨军^,

- 上海交通大学医学院附属新华医院耳鼻咽喉-头颈外科上海市耳鼻疾病转化医学重点实验室上海交通大学医学院耳科学研究所(上海, 200092)
基金项目:
上海市科委项目(No:16XD1402200)

详细信息

通讯作者: 杨军,E-mail:yangjun@xinhuamed.com.cn

中图分类号: R764.43

收稿日期: 2019-05-20

One case report of Mohr-Tranebj?rg syndrome

HUANG Yuyu,
YANG Jun^,

More Information

Corresponding author: YANG Jun, E-mail: yangjun@xinhuamed.com.cn

Received Date: 20 May 2019

摘要

- Mohr-Tranebjæ /
- rg综合征 /
- 听觉丧失,感音神经性 /
- 耳蜗植入术
Abstract: A 4-year-old male patient was found poor development in hearing and speech, without family hereditary history. Hearing screening was failed at birth. From the age of 2, the patient showed poor response to sound and speech, but no audiological examination was carried out. After physical examination, no deformity was found in both ears, and the tympanic membranes were intact; the muscular tension was normal; and the visual acuity was normal. The acoustic immittance showed curve A; DPOAE showed that both ears passed; click ABR threshold was greater than 95 dB nHL, bone conduction was greater than 45 dB nHL; electrocochleogram was bilateral elicited. There were no malformations of cochlea and inner ear showed in temporal bone CT and internal auditory canal MRI. Gene detection indicated a mutation in TIMM8A gene of X chromosome. Combined with the patient's medical history, gene detection, audiological manifestations and imaging examination, the final diagnosis was Mohr-Tranebjærg syndrome, bilateral severe sensorineural hearing loss, and auditory neuropathy.
- Mohr-Tranebjæ /
- rg syndrome /
- hearing loss, sensorineural /
- cochlear implantation

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参考文献(10)

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