Yan Ding, Zhixuan Chen, Huaxuan Wen, Dandan Luo, Ying Yuan, Shaojun Zhang, Xiaohong Zhong, Shengli Li
{"title":"Prenatal Diagnosis of Cerebellar Cortical Dysplasia: Case Report","authors":"Yan Ding, Zhixuan Chen, Huaxuan Wen, Dandan Luo, Ying Yuan, Shaojun Zhang, Xiaohong Zhong, Shengli Li","doi":"10.1007/s12311-024-01688-9","DOIUrl":null,"url":null,"abstract":"<p>This was a study of 12 cerebellar cortical dysplasias (CCDs) fetuses, these cases were characterized by a disorder of cerebellar fissures. Historically, CCD diagnosis was primarily performed using postnatal imaging. Unique to this study was the case series of CCD for prenatal diagnosis using prenatal ultrasound, as well as we found that <i>AXIN1</i> and <i>FOXC1</i> mutations may be related to CCD.</p>","PeriodicalId":22415,"journal":{"name":"The Cerebellum","volume":"70 1","pages":""},"PeriodicalIF":0.0000,"publicationDate":"2024-04-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"The Cerebellum","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1007/s12311-024-01688-9","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 0
Abstract
This was a study of 12 cerebellar cortical dysplasias (CCDs) fetuses, these cases were characterized by a disorder of cerebellar fissures. Historically, CCD diagnosis was primarily performed using postnatal imaging. Unique to this study was the case series of CCD for prenatal diagnosis using prenatal ultrasound, as well as we found that AXIN1 and FOXC1 mutations may be related to CCD.
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