A case of Marden-Walker syndrome with Dandy-Walker malformation
dc.contributor.author | Özkınay F. | |
dc.contributor.author | Özyürek A.R. | |
dc.contributor.author | Bakiler A.R. | |
dc.contributor.author | Narin N. | |
dc.contributor.author | Yüksel H. | |
dc.contributor.author | Özkınay C. | |
dc.contributor.author | Parlar A. | |
dc.contributor.author | Arcasoy M. | |
dc.date.accessioned | 2019-10-27T00:33:13Z | |
dc.date.available | 2019-10-27T00:33:13Z | |
dc.date.issued | 1995 | |
dc.department | Ege Üniversitesi | en_US |
dc.description.abstract | A 5-month-old girl with Marden-Walker syndrome is presented. This is a rare autosomal recessive syndrome. So far, approximately 20 cases have been described in the literature. The patient was hospitalized because of difficulty in feeding and slow spontaneous movements. Her parents were first cousins. She was diagnosed with clinical findings of growth and motor retardation, typical facial appearance, congenital heart disease, arachnodactyly, joint contractures, and a Dandy-Walker malformation on magnetic resonance imaging. Copyright © 1995, Wiley Blackwell. All rights reserved | en_US |
dc.identifier.doi | 10.1111/j.1399-0004.1995.tb03964.x | en_US |
dc.identifier.endpage | 223 | en_US |
dc.identifier.issn | 0009-9163 | |
dc.identifier.issue | 4 | en_US |
dc.identifier.pmid | 7543036 | en_US |
dc.identifier.scopusquality | Q1 | en_US |
dc.identifier.startpage | 221 | en_US |
dc.identifier.uri | https://doi.org/10.1111/j.1399-0004.1995.tb03964.x | |
dc.identifier.uri | https://hdl.handle.net/11454/23999 | |
dc.identifier.volume | 47 | en_US |
dc.indekslendigikaynak | Scopus | en_US |
dc.indekslendigikaynak | PubMed | en_US |
dc.language.iso | en | en_US |
dc.relation.ispartof | Clinical Genetics | en_US |
dc.relation.publicationcategory | Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı | en_US |
dc.rights | info:eu-repo/semantics/closedAccess | en_US |
dc.subject | Dandy Walker malformation | en_US |
dc.subject | Marden Walker syndrome | en_US |
dc.subject | MRI | en_US |
dc.title | A case of Marden-Walker syndrome with Dandy-Walker malformation | en_US |
dc.type | Article | en_US |