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先天性颅神经支配障碍的临床与分子遗传学进展

[Advances in clinical and molecular genetics of congenital cranial dysinnervation disorders].

作者信息

Zhao Jun, Zhao Kan-xing, Tian Yu-min

机构信息

Tianjin Medical University, Tianjin Eye Hospital, Tianjin, China.

出版信息

Zhonghua Yan Ke Za Zhi. 2007 Jan;43(1):82-6.

Abstract

Congenital cranial dysinnervation disorders (CCDDs) are congenital non-progressive, sporadic or familial abnormalities of cranial musculature that result from developmental abnormalities of, or the complete absence of, one or more cranial nerves with primary or secondary muscle dysinnervation. These disorders include vertical disorders of ocular motility, horizontal disorders of ocular motility and disorders with abnormalities of facial motility that were previously referred to as "congenital fibrosis syndromes". The advances in clinical and molecular genetics of congenital cranial dysinnervation disorders are reviewed.

摘要

先天性颅神经支配障碍(CCDDs)是颅部肌肉组织的先天性非进行性、散发性或家族性异常,由一条或多条颅神经的发育异常或完全缺失以及原发性或继发性肌肉去神经支配所致。这些疾病包括眼球运动垂直障碍、眼球运动水平障碍以及面部运动异常的疾病,后者以前被称为“先天性纤维化综合征”。本文综述了先天性颅神经支配障碍的临床和分子遗传学进展。

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