Verzijl Harriëtte T F M, van der Zwaag Bert, Cruysberg Johannes R M, Padberg George W
Department of Neurology, University Medical Center Nijmegen, The Netherlands.
Neurology. 2003 Aug 12;61(3):327-33. doi: 10.1212/01.wnl.0000076484.91275.cd.
To investigate the variable clinical picture of Möbius syndrome (MIM no. 157900) and to further understand the pathogenesis of the disorder.
A standardized questionnaire was submitted to 37 Dutch patients with Möbius syndrome. All underwent standardized neurologic examination with special attention to cranial nerve functions, motor skills, and facial and limb anomalies.
Of 37 patients with facial paresis, 97% had bilateral and 3% had unilateral ocular abduction weakness. Further analysis showed isolated abducens nerve palsy in 9%, a conjugated horizontal gaze paresis in 48%, features of Duane retraction syndrome in 34%, and congenital fibrosis of the extraocular muscles in 9%. Other signs included lingual involvement (77%), dysfunction of palate and pharynx (56%), general motor disability (88%), poor coordination (83%), and respiratory abnormalities (19%).
Möbius syndrome is more than a cranial nerve or nuclear developmental disorder. It is a syndrome of rhombencephalic maldevelopment involving predominantly motor nuclei and axons, as well as traversing long tracts. The authors also noted gaze palsies, Duane retraction syndrome, feeding and respiratory problems, and poor motor development, suggesting a regional developmental disorder.
研究莫比乌斯综合征（MIM编号157900）的多样临床表现，并进一步了解该疾病的发病机制。
向37名荷兰莫比乌斯综合征患者发放标准化问卷。所有患者均接受标准化神经学检查，特别关注颅神经功能、运动技能以及面部和肢体异常情况。
在37例面部麻痹患者中，97%存在双侧眼球外展无力，3%存在单侧眼球外展无力。进一步分析显示，孤立性展神经麻痹占9%，共轭性水平凝视麻痹占48%，杜安眼球后退综合征特征占34%，眼外肌先天性纤维化占9%。其他体征包括舌部受累（77%）、腭部和咽部功能障碍（56%）、全身运动功能残疾（88%）、协调性差（83%）以及呼吸异常（19%）。
莫比乌斯综合征不仅仅是一种颅神经或神经核发育障碍。它是一种菱脑发育异常综合征，主要累及运动神经核和轴突以及穿行的长束。作者还指出了凝视麻痹、杜安眼球后退综合征、喂养和呼吸问题以及运动发育不良，提示存在局部发育障碍。
