1例FBXO11相关疾病患者的颅内MRI表现

IF 0.2 Q4 PEDIATRICS

Journal of pediatric neurology Pub Date : 2023-05-25 DOI:10.1055/s-0043-1772491

Vishal Chandra, A. Aggarwal, Amanda Moen, S. Strul, C. Özütemiz

{"title":"1例FBXO11相关疾病患者的颅内MRI表现","authors":"Vishal Chandra, A. Aggarwal, Amanda Moen, S. Strul, C. Özütemiz","doi":"10.1055/s-0043-1772491","DOIUrl":null,"url":null,"abstract":"Abstract FBXO11- related intellectual developmental disorder with dysmorphic facies and behavioral abnormalities is a rare genetic disorder. Brain magnetic resonance imaging (MRI) findings associated with this disorder have been sparsely described in literature. This case report describes and depicts brain MRI of a patient with FBXO11 -related disorder. The radiologic findings within this report aim to improve the knowledge of the radiologists and clinicians in the detection of this rare condition.","PeriodicalId":16729,"journal":{"name":"Journal of pediatric neurology","volume":null,"pages":null},"PeriodicalIF":0.2000,"publicationDate":"2023-05-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Intracranial MRI Findings in a Patient with FBXO11 -Related Disorder\",\"authors\":\"Vishal Chandra, A. Aggarwal, Amanda Moen, S. Strul, C. Özütemiz\",\"doi\":\"10.1055/s-0043-1772491\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Abstract FBXO11- related intellectual developmental disorder with dysmorphic facies and behavioral abnormalities is a rare genetic disorder. Brain magnetic resonance imaging (MRI) findings associated with this disorder have been sparsely described in literature. This case report describes and depicts brain MRI of a patient with FBXO11 -related disorder. The radiologic findings within this report aim to improve the knowledge of the radiologists and clinicians in the detection of this rare condition.\",\"PeriodicalId\":16729,\"journal\":{\"name\":\"Journal of pediatric neurology\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":0.2000,\"publicationDate\":\"2023-05-25\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Journal of pediatric neurology\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1055/s-0043-1772491\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q4\",\"JCRName\":\"PEDIATRICS\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of pediatric neurology","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1055/s-0043-1772491","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"PEDIATRICS","Score":null,"Total":0}

引用次数: 0

摘要

FBXO11相关智力发育障碍伴畸形相和行为异常是一种罕见的遗传性疾病。与这种疾病相关的脑磁共振成像(MRI)发现在文献中很少有描述。本病例报告描述并描述了FBXO11相关疾病患者的脑MRI。本报告中的放射学发现旨在提高放射科医生和临床医生对这种罕见疾病的认识。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

查看原文本刊更多论文

Intracranial MRI Findings in a Patient with FBXO11 -Related Disorder

Abstract FBXO11- related intellectual developmental disorder with dysmorphic facies and behavioral abnormalities is a rare genetic disorder. Brain magnetic resonance imaging (MRI) findings associated with this disorder have been sparsely described in literature. This case report describes and depicts brain MRI of a patient with FBXO11 -related disorder. The radiologic findings within this report aim to improve the knowledge of the radiologists and clinicians in the detection of this rare condition.

求助全文

通过发布文献求助，成功后即可免费获取论文全文。去求助

来源期刊

Journal of pediatric neurology PEDIATRICS-

CiteScore

0.40

自引率

0.00%

发文量

期刊介绍： The Journal of Pediatric Neurology is a multidisciplinary peer-reviewed medical journal publishing articles in the fields of childhood neurology, pediatric neurosurgery, pediatric neuroradiology, child psychiatry and pediatric neuroscience. The Journal of Pediatric Neurology, the official journal of the Society of Pediatric Science of the Yüzüncü Yil University in Turkiye, encourages submissions from authors throughout the world. The following articles will be considered for publication: editorials, original and review articles, rapid communications, case reports, neuroimage of the month, letters to the editor and book reviews.