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...
- 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)
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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 |
_version_ |
1814167559520387072 |