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Follow-up study of Wiedemann-Rautenstrauch syndrome: Long-term survival and comparison with Rautenstrauch's patient G

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dc.creatorArboleda H.spa
dc.creatorArboleda G.spa
dc.date.accessioned2020-05-26T00:03:04Z
dc.date.available2020-05-26T00:03:04Z
dc.date.created2005spa
dc.description.abstractBACKGROUND: Wiedemann-Rautenstrauch syndrome (WRS) characterizes a neonatal progeroid entity. In the last 30 years, 28 cases have been reported. In most cases of WRS, survival is short and long-term studies are impossible. CASE: In the present report, we describe a patient with WRS followed for 17 years at the Instituto de Genética, Universidad Nacional de Colombia; this is an exceptional survival period for a person with WRS. The information collected through 17 years for the present patient provides new knowledge about the natural evolution of this syndrome. New clinical and laboratory characteristics are compared with those reported for Rautenstrauch's patient 'G.' CONCLUSIONS: Our results confirm the variability of this syndrome, especially at the neurological level. However, many etiological and pathological aspects of this syndrome remain unknown. © 2005 Wiley-Liss, Inc.eng
dc.format.mimetypeapplication/pdf
dc.identifier.doihttps://doi.org/10.1002/bdra.20166
dc.identifier.issn15420760
dc.identifier.issn15420752
dc.identifier.urihttps://repository.urosario.edu.co/handle/10336/23558
dc.language.isoengspa
dc.relation.citationEndPage568
dc.relation.citationIssueNo. 8
dc.relation.citationStartPage562
dc.relation.citationTitleBirth Defects Research Part A - Clinical and Molecular Teratology
dc.relation.citationVolumeVol. 73
dc.relation.ispartofBirth Defects Research Part A - Clinical and Molecular Teratology, ISSN:15420760, 15420752, Vol.73, No.8 (2005); pp. 562-568spa
dc.relation.urihttps://www.scopus.com/inward/record.uri?eid=2-s2.0-23944503267&doi=10.1002%2fbdra.20166&partnerID=40&md5=011646e51c42f90a7f85432b713f1cfaspa
dc.rights.accesRightsinfo:eu-repo/semantics/openAccess
dc.rights.accesoAbierto (Texto Completo)spa
dc.source.instnameinstname:Universidad del Rosariospa
dc.source.reponamereponame:Repositorio Institucional EdocURspa
dc.subject.keywordAdolescentspa
dc.subject.keywordArticlespa
dc.subject.keywordCase reportspa
dc.subject.keywordClinical featurespa
dc.subject.keywordColombiaspa
dc.subject.keywordDisease coursespa
dc.subject.keywordFace dysmorphiaspa
dc.subject.keywordFollow upspa
dc.subject.keywordHumanspa
dc.subject.keywordHydrocephalusspa
dc.subject.keywordPremature agingspa
dc.subject.keywordPriority journalspa
dc.subject.keywordProgeriaspa
dc.subject.keywordSurvivalspa
dc.subject.keywordWiedemann rautenstrauch syndromespa
dc.subject.keywordAbnormalitieseng
dc.subject.keywordAdolescentspa
dc.subject.keywordFemalespa
dc.subject.keywordHumansspa
dc.subject.keywordMalespa
dc.subject.keywordSurvivorsspa
dc.subject.keywordSyndromespa
dc.subject.keywordLong-term follow-upspa
dc.subject.keywordNeonatal progeroid syndromespa
dc.subject.keywordWiedemann-rautenstrauch syndromespa
dc.titleFollow-up study of Wiedemann-Rautenstrauch syndrome: Long-term survival and comparison with Rautenstrauch's patient Gspa
dc.title.TranslatedTitleFollow-up study of Wiedemann-Rautenstrauch syndrome: Long-term survival and comparison with Rautenstrauch's patient 'G'eng
dc.typearticleeng
dc.type.hasVersioninfo:eu-repo/semantics/publishedVersion
dc.type.spaArtículospa
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