{"title":"Nager Syndrome: Report of Clinical and Radiological Findings in an EgyptianInfant","authors":"E. Abdalla","doi":"10.4172/2157-7412.1000i103","DOIUrl":null,"url":null,"abstract":"Nager syndrome is an extremely rare genetic condition, that this case is the first reported from Egypt. The affected infant manifested a severe phenotype with growth retardation and congenital heart defect. Limb anomalies are a cardinal sign and, in combination with the characteristic craniofacial features, are diagnostic.","PeriodicalId":89584,"journal":{"name":"Journal of genetic syndromes & gene therapy","volume":"29 1","pages":"1-2"},"PeriodicalIF":0.0000,"publicationDate":"2016-03-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of genetic syndromes & gene therapy","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.4172/2157-7412.1000i103","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
Nager syndrome is an extremely rare genetic condition, that this case is the first reported from Egypt. The affected infant manifested a severe phenotype with growth retardation and congenital heart defect. Limb anomalies are a cardinal sign and, in combination with the characteristic craniofacial features, are diagnostic.