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

BACKGROUND: 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 y...

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Autores:
Tipo de recurso:
Fecha de publicación:
2005
Institución:
Universidad del Rosario
Repositorio:
Repositorio EdocUR - U. Rosario
Idioma:
eng
OAI Identifier:
oai:repository.urosario.edu.co:10336/23558
Acceso en línea:
https://doi.org/10.1002/bdra.20166
https://repository.urosario.edu.co/handle/10336/23558
Palabra clave:
Adolescent
Article
Case report
Clinical feature
Colombia
Disease course
Face dysmorphia
Follow up
Human
Hydrocephalus
Premature aging
Priority journal
Progeria
Survival
Wiedemann rautenstrauch syndrome
Adolescent
Female
Humans
Male
Survivors
Syndrome
Long-term follow-up
Neonatal progeroid syndrome
Wiedemann-rautenstrauch syndrome
multiple
Abnormalities
Rights
License
Abierto (Texto Completo)
id EDOCUR2_1efb7650f048d34f8818986fefac3b71
oai_identifier_str oai:repository.urosario.edu.co:10336/23558
network_acronym_str EDOCUR2
network_name_str Repositorio EdocUR - U. Rosario
repository_id_str
spelling 15ad7c6a-7344-4c5e-9e3b-a7afb2a5d1b4-13104b7d2-1145-4ddd-a515-e5c7e840a50d-12020-05-26T00:03:04Z2020-05-26T00:03:04Z2005BACKGROUND: 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.application/pdfhttps://doi.org/10.1002/bdra.201661542076015420752https://repository.urosario.edu.co/handle/10336/23558eng568No. 8562Birth Defects Research Part A - Clinical and Molecular TeratologyVol. 73Birth Defects Research Part A - Clinical and Molecular Teratology, ISSN:15420760, 15420752, Vol.73, No.8 (2005); pp. 562-568https://www.scopus.com/inward/record.uri?eid=2-s2.0-23944503267&doi=10.1002%2fbdra.20166&partnerID=40&md5=011646e51c42f90a7f85432b713f1cfaAbierto (Texto Completo)http://purl.org/coar/access_right/c_abf2instname:Universidad del Rosarioreponame:Repositorio Institucional EdocURAdolescentArticleCase reportClinical featureColombiaDisease courseFace dysmorphiaFollow upHumanHydrocephalusPremature agingPriority journalProgeriaSurvivalWiedemann rautenstrauch syndromeAdolescentFemaleHumansMaleSurvivorsSyndromeLong-term follow-upNeonatal progeroid syndromeWiedemann-rautenstrauch syndromemultipleAbnormalitiesFollow-up study of Wiedemann-Rautenstrauch syndrome: Long-term survival and comparison with Rautenstrauch's patient GFollow-up study of Wiedemann-Rautenstrauch syndrome: Long-term survival and comparison with Rautenstrauch's patient 'G'articleArtículohttp://purl.org/coar/version/c_970fb48d4fbd8a85http://purl.org/coar/resource_type/c_6501Arboleda H.Arboleda G.10336/23558oai:repository.urosario.edu.co:10336/235582022-05-02 07:37:21.071747https://repository.urosario.edu.coRepositorio institucional EdocURedocur@urosario.edu.co
dc.title.spa.fl_str_mv Follow-up study of Wiedemann-Rautenstrauch syndrome: Long-term survival and comparison with Rautenstrauch's patient G
dc.title.TranslatedTitle.eng.fl_str_mv Follow-up study of Wiedemann-Rautenstrauch syndrome: Long-term survival and comparison with Rautenstrauch's patient 'G'
title Follow-up study of Wiedemann-Rautenstrauch syndrome: Long-term survival and comparison with Rautenstrauch's patient G
spellingShingle Follow-up study of Wiedemann-Rautenstrauch syndrome: Long-term survival and comparison with Rautenstrauch's patient G
Adolescent
Article
Case report
Clinical feature
Colombia
Disease course
Face dysmorphia
Follow up
Human
Hydrocephalus
Premature aging
Priority journal
Progeria
Survival
Wiedemann rautenstrauch syndrome
Adolescent
Female
Humans
Male
Survivors
Syndrome
Long-term follow-up
Neonatal progeroid syndrome
Wiedemann-rautenstrauch syndrome
multiple
Abnormalities
title_short Follow-up study of Wiedemann-Rautenstrauch syndrome: Long-term survival and comparison with Rautenstrauch's patient G
title_full Follow-up study of Wiedemann-Rautenstrauch syndrome: Long-term survival and comparison with Rautenstrauch's patient G
title_fullStr Follow-up study of Wiedemann-Rautenstrauch syndrome: Long-term survival and comparison with Rautenstrauch's patient G
title_full_unstemmed Follow-up study of Wiedemann-Rautenstrauch syndrome: Long-term survival and comparison with Rautenstrauch's patient G
title_sort Follow-up study of Wiedemann-Rautenstrauch syndrome: Long-term survival and comparison with Rautenstrauch's patient G
dc.subject.keyword.spa.fl_str_mv Adolescent
Article
Case report
Clinical feature
Colombia
Disease course
Face dysmorphia
Follow up
Human
Hydrocephalus
Premature aging
Priority journal
Progeria
Survival
Wiedemann rautenstrauch syndrome
Adolescent
Female
Humans
Male
Survivors
Syndrome
Long-term follow-up
Neonatal progeroid syndrome
Wiedemann-rautenstrauch syndrome
topic Adolescent
Article
Case report
Clinical feature
Colombia
Disease course
Face dysmorphia
Follow up
Human
Hydrocephalus
Premature aging
Priority journal
Progeria
Survival
Wiedemann rautenstrauch syndrome
Adolescent
Female
Humans
Male
Survivors
Syndrome
Long-term follow-up
Neonatal progeroid syndrome
Wiedemann-rautenstrauch syndrome
multiple
Abnormalities
dc.subject.keyword.eng.fl_str_mv multiple
Abnormalities
description BACKGROUND: 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.
publishDate 2005
dc.date.created.spa.fl_str_mv 2005
dc.date.accessioned.none.fl_str_mv 2020-05-26T00:03:04Z
dc.date.available.none.fl_str_mv 2020-05-26T00:03:04Z
dc.type.eng.fl_str_mv article
dc.type.coarversion.fl_str_mv http://purl.org/coar/version/c_970fb48d4fbd8a85
dc.type.coar.fl_str_mv http://purl.org/coar/resource_type/c_6501
dc.type.spa.spa.fl_str_mv Artículo
dc.identifier.doi.none.fl_str_mv https://doi.org/10.1002/bdra.20166
dc.identifier.issn.none.fl_str_mv 15420760
15420752
dc.identifier.uri.none.fl_str_mv https://repository.urosario.edu.co/handle/10336/23558
url https://doi.org/10.1002/bdra.20166
https://repository.urosario.edu.co/handle/10336/23558
identifier_str_mv 15420760
15420752
dc.language.iso.spa.fl_str_mv eng
language eng
dc.relation.citationEndPage.none.fl_str_mv 568
dc.relation.citationIssue.none.fl_str_mv No. 8
dc.relation.citationStartPage.none.fl_str_mv 562
dc.relation.citationTitle.none.fl_str_mv Birth Defects Research Part A - Clinical and Molecular Teratology
dc.relation.citationVolume.none.fl_str_mv Vol. 73
dc.relation.ispartof.spa.fl_str_mv Birth Defects Research Part A - Clinical and Molecular Teratology, ISSN:15420760, 15420752, Vol.73, No.8 (2005); pp. 562-568
dc.relation.uri.spa.fl_str_mv https://www.scopus.com/inward/record.uri?eid=2-s2.0-23944503267&doi=10.1002%2fbdra.20166&partnerID=40&md5=011646e51c42f90a7f85432b713f1cfa
dc.rights.coar.fl_str_mv http://purl.org/coar/access_right/c_abf2
dc.rights.acceso.spa.fl_str_mv Abierto (Texto Completo)
rights_invalid_str_mv Abierto (Texto Completo)
http://purl.org/coar/access_right/c_abf2
dc.format.mimetype.none.fl_str_mv application/pdf
institution Universidad del Rosario
dc.source.instname.spa.fl_str_mv instname:Universidad del Rosario
dc.source.reponame.spa.fl_str_mv reponame:Repositorio Institucional EdocUR
repository.name.fl_str_mv Repositorio institucional EdocUR
repository.mail.fl_str_mv edocur@urosario.edu.co
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