{"title":"[Hirschsprung-Galant infantilism].","authors":"P Fehlow, F Walther","doi":"","DOIUrl":null,"url":null,"abstract":"<p><p>Report about a 17 1/2 year-old girl with severe mental retardation, dwarfism, hypogenitalism and short segment type of HIRSCHSPRUNG's disease, abortive SMITH-LEMLI-OPITZ syndrome is supposed. Literature about etiology and genetics of HIRSCHSPRUNG's disease is reviewed.</p>","PeriodicalId":19624,"journal":{"name":"Padiatrie und Grenzgebiete","volume":"30 3","pages":"245-52"},"PeriodicalIF":0.0000,"publicationDate":"1991-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Padiatrie und Grenzgebiete","FirstCategoryId":"1085","ListUrlMain":"","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
Report about a 17 1/2 year-old girl with severe mental retardation, dwarfism, hypogenitalism and short segment type of HIRSCHSPRUNG's disease, abortive SMITH-LEMLI-OPITZ syndrome is supposed. Literature about etiology and genetics of HIRSCHSPRUNG's disease is reviewed.