Prenatal Diagnosis of Cerebellar Cortical Dysplasia: Case Report

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":null,"pages":null},"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.

Abstract Image

小脑皮质发育不良的产前诊断:病例报告
这是一项对12个小脑皮质发育不良(CCDs)胎儿的研究,这些病例的特点是小脑裂隙紊乱。一直以来,CCD 的诊断主要通过产后成像进行。本研究的独特之处在于利用产前超声波对 CCD 进行产前诊断,并发现 AXIN1 和 FOXC1 基因突变可能与 CCD 有关。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
求助全文
约1分钟内获得全文 求助全文
来源期刊
自引率
0.00%
发文量
0
文献相关原料
公司名称 产品信息 采购帮参考价格
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
确定
请完成安全验证×
copy
已复制链接
快去分享给好友吧!
我知道了
右上角分享
点击右上角分享
0
联系我们:info@booksci.cn Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术官方微信