{"title":"Autosomal recessive microcephaly, microcornea, congenital cataract, mental retardation, optic atrophy, and hypogenitalism. Micro syndrome.","authors":"M Warburg, O Sjö, H C Fledelius, S A Pedersen","doi":"10.1001/archpedi.1993.02160360051017","DOIUrl":null,"url":null,"abstract":"<p><p>Three affected children from an inbred family had microcornea, microcephaly, congenital cataract, severe mental retardation, retinal dystrophy, optic nerve atrophy, hypothalamic hypogenitalism, and agenesis of the corpus callosum. The disorder is presumably autosomal recessive; no identical syndrome has been described, but we consider syndromes with similar features.</p>","PeriodicalId":75474,"journal":{"name":"American journal of diseases of children (1960)","volume":"147 12","pages":"1309-12"},"PeriodicalIF":0.0000,"publicationDate":"1993-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1001/archpedi.1993.02160360051017","citationCount":"105","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"American journal of diseases of children (1960)","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1001/archpedi.1993.02160360051017","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 105
Abstract
Three affected children from an inbred family had microcornea, microcephaly, congenital cataract, severe mental retardation, retinal dystrophy, optic nerve atrophy, hypothalamic hypogenitalism, and agenesis of the corpus callosum. The disorder is presumably autosomal recessive; no identical syndrome has been described, but we consider syndromes with similar features.