E. Rodrigues, N.M. Falkner, R. Lakshmanan, S. Williams, R. Warne
{"title":"Möbius综合征和小脑发育不良:一个新的联系","authors":"E. Rodrigues, N.M. Falkner, R. Lakshmanan, S. Williams, R. Warne","doi":"10.3174/ng.2100038","DOIUrl":null,"url":null,"abstract":"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\n 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.","PeriodicalId":36193,"journal":{"name":"Neurographics","volume":" ","pages":""},"PeriodicalIF":0.0000,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Möbius Syndrome and Cerebellar Dysplasia: A Novel Association\",\"authors\":\"E. Rodrigues, N.M. Falkner, R. Lakshmanan, S. Williams, R. Warne\",\"doi\":\"10.3174/ng.2100038\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"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\\n 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.\",\"PeriodicalId\":36193,\"journal\":{\"name\":\"Neurographics\",\"volume\":\" \",\"pages\":\"\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2023-01-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Neurographics\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.3174/ng.2100038\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q4\",\"JCRName\":\"Medicine\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Neurographics","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.3174/ng.2100038","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"Medicine","Score":null,"Total":0}
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.