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交替性下斜视伴假性上睑下垂:先天性颅神经支配障碍的一种新表型。

Alternating Hypotropia with Pseudoptosis: A New Phenotype of Congenital Cranial Dysinnervation Disorder.

作者信息

Sedarous Fady, Chan Toby Y B, Makar Inas

机构信息

University of Toronto, Toronto, Ontario, Canada.

McMaster University, Waterloo Regional Campus, Kitchener, Ontario, Canada.

出版信息

Case Rep Ophthalmol. 2018 Feb 1;9(1):96-101. doi: 10.1159/000485832. eCollection 2018 Jan-Apr.

Abstract

Congenital cranial dysinnervation disorders, also known as CCDDs, are characterized by aberrant innervation to extraocular and facial muscles resulting in unusual forms of incomitant strabismus. Anomalous innervation to extraocular muscles can result in a wide variety of phenotypes causing various clinical conditions such as Duane syndrome, congenital fibrosis of the extraocular muscles, and Möbius syndrome. We report a case of bilateral dysinnervation disorder causing atypical ocular movements in both eyes as the patient changes fixation from one eye to the other and from right gaze to left gaze that fits with the wider diagnosis of CCDDs.

摘要

先天性颅神经支配障碍,也称为CCDDs,其特征是眼外肌和面部肌肉的神经支配异常,导致不寻常形式的非共同性斜视。眼外肌的异常神经支配可导致多种表型,引发各种临床病症,如杜安综合征、眼外肌先天性纤维化和莫比乌斯综合征。我们报告了一例双侧神经支配障碍病例,当患者将注视从一只眼睛转移到另一只眼睛以及从右侧注视转移到左侧注视时,双眼出现非典型眼球运动,这符合CCDDs的更广泛诊断。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/73d6/5892332/c9a468aca522/cop-0009-0096-g01.jpg

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