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伴有先天性面神经麻痹的戈尔登哈综合征(眼耳脊椎发育不良)。

Goldenhar's Syndrome (oculo-auriculo-vertebral dysplasia) with congenital facial nerve palsy.

作者信息

Berker Nilufer, Acaroğlu Golge, Soykan Emel

机构信息

Department of Uveal and Retinal Diseases, Social Insurance Eye Hospital, Ankara, Turkey.

出版信息

Yonsei Med J. 2004 Feb 29;45(1):157-60. doi: 10.3349/ymj.2004.45.1.157.

Abstract

Goldenhar's Syndrome (oculo-auriculo-vertebral dysplasia) is a wide spectrum of congenital anomalies that involves structures arising from the first and second branchial arches. In this report, a case of a male infant, with the features of hemi facial microsomia, anotia, vertebral anomalies, congenital facial nerve palsy and lagophthalmos is described. Although the syndrome itself is not uncommon, the presence of congenital facial nerve palsy, which has been reported in rare cases, prompted this case report.

摘要

戈尔登哈综合征(眼耳脊椎发育不良)是一种广泛的先天性异常,涉及起源于第一和第二鳃弓的结构。在本报告中,描述了一例男性婴儿,具有半侧颜面短小、无耳、脊椎异常、先天性面神经麻痹和兔眼等特征。虽然该综合征本身并不罕见,但先天性面神经麻痹的存在(罕见病例中有报道)促使了本病例报告的撰写。

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