A. Panwar, A. Taksande, Syed Athhar Saqqaf, R. Meshram
{"title":"Atypical Presentation of Holt-Oram syndrome: A Case Report","authors":"A. Panwar, A. Taksande, Syed Athhar Saqqaf, R. Meshram","doi":"10.22038/IJP.2020.53117.4209","DOIUrl":null,"url":null,"abstract":"Holt-Oram syndrome (HOS) is an autosomal dominant disorder, a mutation in TBX5 gene located on chromosome 12 (12q24.1) involving the upper limb and the heart, causing malformations like atrial septal defect. Herein, we report a rare case of HOS with atrial septal defect and ventricular septal defect with severe pulmonary arterial hypertension in a three-year-old child.","PeriodicalId":51591,"journal":{"name":"International Journal of Pediatrics","volume":"9 1","pages":"13731-13735"},"PeriodicalIF":1.3000,"publicationDate":"2021-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"18","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"International Journal of Pediatrics","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.22038/IJP.2020.53117.4209","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"PEDIATRICS","Score":null,"Total":0}
引用次数: 18
Abstract
Holt-Oram syndrome (HOS) is an autosomal dominant disorder, a mutation in TBX5 gene located on chromosome 12 (12q24.1) involving the upper limb and the heart, causing malformations like atrial septal defect. Herein, we report a rare case of HOS with atrial septal defect and ventricular septal defect with severe pulmonary arterial hypertension in a three-year-old child.
期刊介绍：
International Journal of Pediatrics is a peer-reviewed, open access journal that publishes original researcharticles, review articles, and clinical studies in all areas of pediatric research. The journal accepts submissions presented as an original article, short communication, case report, review article, systematic review, or letter to the editor.
京公网安备 11010802042870号
京ICP备2023020795号-1
分享
求助内容：
应助结果提醒方式：
扫码关注我们
