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先天性眼纤维化综合征中的神经错向:影响及发病机制

Neural misdirection in congenital ocular fibrosis syndrome: implications and pathogenesis.

作者信息

Brodsky M C, Pollock S C, Buckley E G

机构信息

Department of Ophthalmology, Duke University Medical Center, Durham, NC 27710.

出版信息

J Pediatr Ophthalmol Strabismus. 1989 Jul-Aug;26(4):159-61. doi: 10.3928/0191-3913-19890701-03.

Abstract

A child with congenital ocular fibrosis syndrome and oculocutaneous albinism displayed two distinct neural misdirection syndromes: synergistic divergence and Marcus Gunn jaw winking. This and other reported cases of misdirected innervation in patients with congenital fibrosis syndrome suggest that normal neuronal connections fail to become established early in development and that lack of innervation may underlie the pathologic features of the disorder. The prevailing concept of congenital fibrosis syndrome as a primary myopathy should be reconsidered.

摘要

一名患有先天性眼纤维化综合征和眼皮肤白化病的儿童表现出两种不同的神经错向综合征

协同性散开和马库斯·冈恩下颌瞬目。该病例以及其他报道的先天性纤维化综合征患者的神经支配错误病例表明,正常的神经元连接在发育早期未能建立,且缺乏神经支配可能是该疾病病理特征的基础。先天性纤维化综合征作为原发性肌病的主流概念应重新考虑。

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