Möbius综合征和小脑发育不良:一个新的联系

Q4 Medicine Neurographics Pub Date : 2023-01-01 DOI:10.3174/ng.2100038
E. Rodrigues, N.M. Falkner, R. Lakshmanan, S. Williams, R. Warne
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引用次数: 0

摘要

我们提出一个病例4个月大的婴儿异常眼动,不寻常的平面相,并缺乏表达在哭泣,临床诊断为Möbius综合征。磁共振成像显示面部和外展神经缺失。右小脑半球发育不良包含一个裂缝和多个簇状囊肿也被观察到,据我们所知,这代表了Möbius综合征和小脑发育不良之间关联的第一个记录病例。对相关文献进行了综述。
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Möbius Syndrome and Cerebellar Dysplasia: A Novel Association
We present a case of a 4-month-old infant with abnormal eye movements, unusual flat facies, and lack of expression during crying, clinically diagnosed with Möbius syndrome. MR imaging demonstrated absent facial and abducens nerves. A dysplastic right cerebellar hemisphere containing a cleft and multiple clustered cysts was also observed, which, to our knowledge, represents the first documented case of an association between Möbius syndrome and cerebellar dysplasia. A review of pertinent literature is provided.
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来源期刊
Neurographics
Neurographics Medicine-Radiology, Nuclear Medicine and Imaging
CiteScore
0.20
自引率
0.00%
发文量
12
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