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与贝克威思-维德曼综合征相关的先天性镫骨固定:一名女性及其兄弟的两例病例

Congenital stapedial fixation associated with Beckwith--Wiedemann syndrome: two cases of a woman and her brother.

作者信息

Takahashi S, Shinoda H, Nakano Y

机构信息

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

出版信息

Am J Otol. 1996 Jan;17(1):111-4.

PMID:8694112
Abstract

Beckwith-Wiedemann syndrome (BWS) is characterized by the triad of exophthalmos, macroglossia, and gigantism (EMG syndrome) presented at birth. Two patients with BWS, a woman and her younger brother, who presented with conductive deafness caused by middle ear anomaly are reported. Stapedial fixations were confirmed by tympanotomy, and satisfactory hearing improvements were obtained by small fenestra stapedectomy. Hearing loss associated with BWS has not previously been reported. Characteristic sulci on the auricular lobe of BWS are thought to be caused by malposition of the antitragus, which originates from the second branchial arch. Stapedial fixation might be due to maldevelopment of the stapedial lamina, which also originates from the second branchial arch. There could be a causal relationship between stapedial fixation and BWS.

摘要

贝克威思-维德曼综合征(BWS)的特征是出生时出现眼球突出、巨舌症和巨人症三联征(EMG综合征)。本文报告了两名患有BWS的患者,一名女性及其弟弟,他们因中耳异常而出现传导性耳聋。通过鼓室切开术证实镫骨固定,经小窗镫骨切除术听力得到了令人满意的改善。此前尚未报道过与BWS相关的听力损失。BWS患者耳廓叶上的特征性沟被认为是由源自第二鳃弓的对耳屏位置异常引起的。镫骨固定可能是由于同样源自第二鳃弓的镫骨板发育异常所致。镫骨固定与BWS之间可能存在因果关系。

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Progressive stapedial fixation in Beckwith-Wiedemann syndrome.贝克威思-维德曼综合征中的进行性镫骨固定
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Conductive hearing loss in Beckwith-Wiedemann syndrome.贝克威思-维德曼综合征中的传导性听力损失。
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