{"title":"华氏微综合征-一种不寻常的表现与简要的文献回顾","authors":"Laraib Malik","doi":"10.19080/AJPN.2020.09.555816","DOIUrl":null,"url":null,"abstract":"Six months old child brought to our attention for developmental delay. Child came to our hospital for measles, on detailed history and examination, developmental delay noted at 6 months of age. He was operated for cataract at 4 months of age. At this time other anomalies including microcephaly, micro cornea, micro ophthalmia, anterior turning of ears, bilateral retractile testis, micro phallus was noted. X-ray lumbosacral spine showed spina bifida occulta. No family history of any genetic disorder. MRI revealed partial agenesis of corpus callosum, all of the mentioned findings are suggestive of a genetic disorder. Baby was therefore diagnosed as Warburg micro syndrome. It is therefore necessary to look for other syndromes too other than congenital rubella, which closely mimics Warburg syndrome, if a child presents with bilateral cataract only","PeriodicalId":93160,"journal":{"name":"Academic journal of pediatric and neonatology","volume":" ","pages":""},"PeriodicalIF":0.0000,"publicationDate":"2020-03-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Warburg Micro Syndrome- An Unusual Presentation with Brief Review of Literature\",\"authors\":\"Laraib Malik\",\"doi\":\"10.19080/AJPN.2020.09.555816\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Six months old child brought to our attention for developmental delay. Child came to our hospital for measles, on detailed history and examination, developmental delay noted at 6 months of age. He was operated for cataract at 4 months of age. At this time other anomalies including microcephaly, micro cornea, micro ophthalmia, anterior turning of ears, bilateral retractile testis, micro phallus was noted. X-ray lumbosacral spine showed spina bifida occulta. No family history of any genetic disorder. MRI revealed partial agenesis of corpus callosum, all of the mentioned findings are suggestive of a genetic disorder. Baby was therefore diagnosed as Warburg micro syndrome. It is therefore necessary to look for other syndromes too other than congenital rubella, which closely mimics Warburg syndrome, if a child presents with bilateral cataract only\",\"PeriodicalId\":93160,\"journal\":{\"name\":\"Academic journal of pediatric and neonatology\",\"volume\":\" \",\"pages\":\"\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2020-03-02\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Academic journal of pediatric and neonatology\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.19080/AJPN.2020.09.555816\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Academic journal of pediatric and neonatology","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.19080/AJPN.2020.09.555816","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
Warburg Micro Syndrome- An Unusual Presentation with Brief Review of Literature
Six months old child brought to our attention for developmental delay. Child came to our hospital for measles, on detailed history and examination, developmental delay noted at 6 months of age. He was operated for cataract at 4 months of age. At this time other anomalies including microcephaly, micro cornea, micro ophthalmia, anterior turning of ears, bilateral retractile testis, micro phallus was noted. X-ray lumbosacral spine showed spina bifida occulta. No family history of any genetic disorder. MRI revealed partial agenesis of corpus callosum, all of the mentioned findings are suggestive of a genetic disorder. Baby was therefore diagnosed as Warburg micro syndrome. It is therefore necessary to look for other syndromes too other than congenital rubella, which closely mimics Warburg syndrome, if a child presents with bilateral cataract only