R. Choudhary, Romesh Gauttam, Vishnu Pansari, Anand Kumawat
{"title":"Variant of bohring-opitz syndrome: A rare case report","authors":"R. Choudhary, Romesh Gauttam, Vishnu Pansari, Anand Kumawat","doi":"10.18231/J.IJPNS.2021.017","DOIUrl":null,"url":null,"abstract":"Bohring–Opitz syndrome also known as Opitz C syndrome or Oberklaid–Danks syndrome is a rare syndrome. We are reporting a 2 months old male child with Bohring-Opitz like syndrome with all classical features and eventration of diaphragm (left side) which has not been reported yet with this syndrome. To our knowledge, a total of 23 cases with this syndrome have been reported in the medical literature to date and this is probably the first case report from India. Although there is overlap, a clinical distinction from the Bohring-Opitz syndrome and other syndromes seems possible, and thus a specific causal entity may be postulated.","PeriodicalId":391212,"journal":{"name":"IP Journal of Paediatrics and Nursing Science","volume":"71 1","pages":"0"},"PeriodicalIF":0.0000,"publicationDate":"2021-07-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"IP Journal of Paediatrics and Nursing Science","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.18231/J.IJPNS.2021.017","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
Bohring–Opitz syndrome also known as Opitz C syndrome or Oberklaid–Danks syndrome is a rare syndrome. We are reporting a 2 months old male child with Bohring-Opitz like syndrome with all classical features and eventration of diaphragm (left side) which has not been reported yet with this syndrome. To our knowledge, a total of 23 cases with this syndrome have been reported in the medical literature to date and this is probably the first case report from India. Although there is overlap, a clinical distinction from the Bohring-Opitz syndrome and other syndromes seems possible, and thus a specific causal entity may be postulated.