Gutowski N J
Department of Neurology, Royal Devon and Exeter Hospital, Exeter EX2 5DW, UK.
Eur J Neurol. 2000 Mar;7(2):145-9. doi: 10.1046/j.1468-1331.2000.00029.x.
Duane's syndrome is an unusual congenital form of strabismus where there is paradoxical anomalous lateral rectus innervation of the affected eye due to misdirection of axons destined for the medial rectus. Three types of Duane's syndrome are recognized. Most cases of Duane's syndrome are sporadic but up to 10% are familial, usually with autosomal dominant inheritance. Several autosomal dominant syndromes with dysmorphic features are associated with Duane's syndrome. Chromosomal loci for genes contributing to Duane's syndrome have been suggested at 4q, 8q and 22q. Duane's syndrome is heterogeneous at multiple levels with variations in its ocular manifestations, accompanying systemic manifestations and in the chromosomal loci with which it may be associated. The definition clinically and genetically of the various subgroups of Duane's syndrome will provide a valuable insight into brainstem axonal guidance to the extraocular muscles during human development.
杜安综合征是一种罕见的先天性斜视，由于轴突错向至内直肌，患眼外直肌出现反常的异常神经支配。杜安综合征分为三种类型。大多数杜安综合征病例为散发性，但高达10%为家族性，通常为常染色体显性遗传。几种具有畸形特征的常染色体显性综合征与杜安综合征相关。已提出4q、8q和22q为与杜安综合征相关基因的染色体位点。杜安综合征在多个层面上具有异质性，其眼部表现、伴随的全身表现以及可能相关的染色体位点均存在差异。对杜安综合征各亚组进行临床和遗传学定义，将为人类发育过程中脑干对眼外肌的轴突导向提供有价值的见解。
