{"title":"米勒-迪克综合征:一例报告及文献回顾。","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":"{\"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}","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}
The Miller-Dieker syndrome: a case report and review of the literature.
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.
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