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1例表现为先天性双侧声带麻痹的默比厄斯综合征病例。

A case of Moebius syndrome presenting with congenital bilateral vocal cord paralysis.

作者信息

Kanemoto Nobuko, Kanemoto Katsuyoshi, Kamoda Tomohiro, Hasegawa Makoto, Arinami Tadao

机构信息

Department of Pediatrics, Institute of Clinical Medical Sciences, University of Tsukuba, 2-1-1 Amakubo, Tsukuba, Ibaraki, 305-8576, Japan.

出版信息

Eur J Pediatr. 2007 Aug;166(8):831-3. doi: 10.1007/s00431-006-0333-7. Epub 2006 Nov 30.

Abstract

We describe a female infant with bilateral facial paralysis and abducens palsy. To the best of our knowledge, this is the first report of Moebius syndrome presenting with congenital bilateral vocal cord paralysis (CBVCP). Although CBVCP can be part of a recognizable syndrome, i.e. Down syndrome, 22q deletion syndrome, Robinow's syndrome and cerebro-oculo-facio-skeletal syndrome, no reports of Moebius syndrome with CBVCP were found in the literature. CBVCP is often associated with central nervous system abnormalities. However, our patient had no detectable brain abnormalities. The etiology of Moebius syndrome remains unknown. It is interesting that the clinical manifestations of Moebius syndrome can include CBVCP. However, the pathophysiology of CBVCP is unknown and further investigations into the etiology of Moebius syndrome are required.

摘要

我们描述了一名患有双侧面瘫和展神经麻痹的女婴。据我们所知,这是首例伴有先天性双侧声带麻痹(CBVCP)的莫比乌斯综合征报告。虽然CBVCP可能是某种可识别综合征的一部分,如唐氏综合征、22q缺失综合征、罗宾诺综合征和脑眼面骨综合征,但文献中未发现伴有CBVCP的莫比乌斯综合征报告。CBVCP常与中枢神经系统异常相关。然而,我们的患者未检测到脑部异常。莫比乌斯综合征的病因仍然不明。有趣的是,莫比乌斯综合征的临床表现可包括CBVCP。然而,CBVCP的病理生理学尚不清楚,需要对莫比乌斯综合征的病因进行进一步研究。

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