Möbius syndrome as a syndrome of rhombencephalic maldevelopment: a case report.
Möbius syndrome as a syndrome of rhombencephalic maldevelopment: a case report.
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莫比乌斯综合征作为菱形脑发育不良综合征：病例报告。
DOI：
10.1016/s1875-9572(09)60028-0
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发表时间：
2009
影响因子：
2.1
通讯作者：
Chu‐Chin Chen
中科院分区：
文献类型：
--
作者：
Hsueh;Chiao;P. Lai;Chu‐Chin Chen
Möbius综合征是一种罕见的先天性疾病，其特征是先天性面部无力并伴有眼外展损伤。它被认为是一种菱形脑病，常伴有脑桥和小脑发育不全。我们在此报告一位先天性面部不对称且右侧表情缺失的男婴。还发现明显的发育迟缓。双侧听觉脑干反应在85 dB时无反应。重建脑磁共振成像（MRI）显示右侧面神经缺失以及同侧脑桥和小脑发育不全。面部肌肉电刺激后，患者右下脸出现自发性收缩。
Möbius syndrome is a rare congenital disorder characterized by congenital facial weakness with impairment of ocular abduction. It is considered as a rhombencephalic disorder, and is often accompanied with hypoplasia of the pons and cerebellum. Here we report a male infant who had congenital facial asymmetry with absence of right-sided expression. Evident developmental delay was also found. The bilateral auditory brain stem response showed no response at 85 dB. A reconstructive brain magnetic resonance imaging (MRI) revealed the absence of the right facial nerve as well as hypoplasia of the pons and cerebellum of the same side. Some voluntary contraction over the patient's right lower face was noted after facial muscle electrical stimulation.