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[波兰-莫比乌斯综合征伴泪小点和泪小管发育不全]

[Poland-Möbius syndrome associated with lacrimal punctal and canalicular agenesis].

作者信息

Aydin A, Ayata A, Sabahyildizi M, Ersanli D

机构信息

Service d'ophtalmologie, Hôpital d'éducation de Haydarpasa, Académie militaire de médecine de Gulhane, Uskudar, Istanbul, Turquie.

出版信息

J Fr Ophtalmol. 2010 Feb;33(2):119.e1-5. doi: 10.1016/j.jfo.2009.12.002. Epub 2010 Jan 12.

DOI:10.1016/j.jfo.2009.12.002
PMID:20061050
Abstract

We report the case of a 21-year-old patient who presented with epiphora in the left eye and a bilateral ocular motility problem. The clinical examination revealed bilateral moderate abduction limitation (impairment of the VIth cranial nerve), facial diplegia with amimic face (impairment of the VIIth cranial nerve), punctal agenesis of the left eye, absence of the left pectoralis major muscle, left breast aplasia, and hypoplasia of the left upper limb and hand. Neither the lacrimal puncta nor the canaliculi could be found during surgical exploration of left lacrimal system using operating microscope. Based on these findings, the patient was diagnosed with Poland-Möbius syndrome associated with punctal and canalicular agenesis. Poland-Möbius syndrome is a rare entity characterized by the association of two different syndromes: Poland syndrome and Möbius syndrome. Several abnormalities in association with this syndrome have been published. However, punctal and canalicular agenesis is not among these reported abnormalities.

摘要

我们报告了一例21岁患者,其表现为左眼溢泪及双眼眼球运动问题。临床检查发现双侧外展中度受限(第六脑神经受损)、面部双瘫伴表情缺失(第七脑神经受损)、左眼泪点缺如、左侧胸大肌缺如、左侧乳房发育不全以及左上肢和手部发育不全。在使用手术显微镜对左侧泪道系统进行手术探查时,未发现泪点及泪小管。基于这些发现,该患者被诊断为伴有泪点和泪小管缺如的波兰-莫比乌斯综合征。波兰-莫比乌斯综合征是一种罕见的病症,其特征是两种不同综合征的联合:波兰综合征和莫比乌斯综合征。已经发表了与该综合征相关的几种异常情况。然而,泪点和泪小管缺如并不在这些已报道的异常情况之中。

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