{"title":"The Miller-Dieker syndrome: a case report and review of the literature.","authors":"M G Izmeth, E Parameshwar","doi":"10.1111/j.1365-2788.1989.tb01475.x","DOIUrl":null,"url":null,"abstract":"<p><p>A case of Miller-Dieker syndrome is reported. A 6-month-old baby girl has the characteristics of the syndrome. Post natal growth deficiency: microcephaly, profound mental retardation. Craniofacial defects: micrognathia, ear abnormalities, anteverted nares, wrinkling of forehead, bitemporal growing of high forehead. Neurological abnormalities: opisthotonos, epilepsy, initial hypotonia. The literature is reviewed.</p>","PeriodicalId":76014,"journal":{"name":"Journal of mental deficiency research","volume":"33 ( Pt 3) ","pages":"267-70"},"PeriodicalIF":0.0000,"publicationDate":"1989-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1111/j.1365-2788.1989.tb01475.x","citationCount":"1","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of mental deficiency research","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1111/j.1365-2788.1989.tb01475.x","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 1
Abstract
A case of Miller-Dieker syndrome is reported. A 6-month-old baby girl has the characteristics of the syndrome. Post natal growth deficiency: microcephaly, profound mental retardation. Craniofacial defects: micrognathia, ear abnormalities, anteverted nares, wrinkling of forehead, bitemporal growing of high forehead. Neurological abnormalities: opisthotonos, epilepsy, initial hypotonia. The literature is reviewed.