Revesz syndrome

Detalhes bibliográficos
Autor(a) principal: Issaho,Dayane Cristine
Data de Publicação: 2015
Outros Autores: Moreira,Ana Tereza Ramos, Ribeiro,Lisandro Lima, Zago,Rommel Josué, Ribeiro,Christie Graf
Tipo de documento: Relatório
Idioma: eng
Título da fonte: Revista Brasileira de Oftalmologia (Online)
Texto Completo: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0034-72802015000200110
Resumo: Revesz syndrome is a rare variant of dyskeratosis congenita and is characterized by bilateral exudative retinopathy, alterations in the anterior ocular segment, intrauterine growth retardation, fine sparse hair, reticulate skin pigmentation, bone marrow failure, cerebral calcification, cerebellar hypoplasia and psychomotor retardation. Few patients with this syndrome have been reported, and significant clinical variations exist among patients. This report describes the first Brazilian case of Revesz syndrome and its ocular and clinical features.
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spelling Revesz syndromeDyskeratosis congenital/diagnosisRetinal hemorrhageAnemia, aplasticCase reportsRevesz syndrome is a rare variant of dyskeratosis congenita and is characterized by bilateral exudative retinopathy, alterations in the anterior ocular segment, intrauterine growth retardation, fine sparse hair, reticulate skin pigmentation, bone marrow failure, cerebral calcification, cerebellar hypoplasia and psychomotor retardation. Few patients with this syndrome have been reported, and significant clinical variations exist among patients. This report describes the first Brazilian case of Revesz syndrome and its ocular and clinical features.Sociedade Brasileira de Oftalmologia2015-04-01info:eu-repo/semantics/reportinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S0034-72802015000200110Revista Brasileira de Oftalmologia v.74 n.2 2015reponame:Revista Brasileira de Oftalmologia (Online)instname:Sociedade Brasileira de Oftalmologia (SBO)instacron:SBO10.5935/0034-7280.20150025info:eu-repo/semantics/openAccessIssaho,Dayane CristineMoreira,Ana Tereza RamosRibeiro,Lisandro LimaZago,Rommel JosuéRibeiro,Christie Grafeng2015-11-26T00:00:00Zoai:scielo:S0034-72802015000200110Revistahttps://rbo.emnuvens.com.br/rbo/indexhttps://old.scielo.br/oai/scielo-oai.phpsob@sboportal.org.br||rbo@sboportal.org.br1982-85510034-7280opendoar:2015-11-26T00:00Revista Brasileira de Oftalmologia (Online) - Sociedade Brasileira de Oftalmologia (SBO)false
dc.title.none.fl_str_mv Revesz syndrome
title Revesz syndrome
spellingShingle Revesz syndrome
Issaho,Dayane Cristine
Dyskeratosis congenital/diagnosis
Retinal hemorrhage
Anemia, aplastic
Case reports
title_short Revesz syndrome
title_full Revesz syndrome
title_fullStr Revesz syndrome
title_full_unstemmed Revesz syndrome
title_sort Revesz syndrome
author Issaho,Dayane Cristine
author_facet Issaho,Dayane Cristine
Moreira,Ana Tereza Ramos
Ribeiro,Lisandro Lima
Zago,Rommel Josué
Ribeiro,Christie Graf
author_role author
author2 Moreira,Ana Tereza Ramos
Ribeiro,Lisandro Lima
Zago,Rommel Josué
Ribeiro,Christie Graf
author2_role author
author
author
author
dc.contributor.author.fl_str_mv Issaho,Dayane Cristine
Moreira,Ana Tereza Ramos
Ribeiro,Lisandro Lima
Zago,Rommel Josué
Ribeiro,Christie Graf
dc.subject.por.fl_str_mv Dyskeratosis congenital/diagnosis
Retinal hemorrhage
Anemia, aplastic
Case reports
topic Dyskeratosis congenital/diagnosis
Retinal hemorrhage
Anemia, aplastic
Case reports
description Revesz syndrome is a rare variant of dyskeratosis congenita and is characterized by bilateral exudative retinopathy, alterations in the anterior ocular segment, intrauterine growth retardation, fine sparse hair, reticulate skin pigmentation, bone marrow failure, cerebral calcification, cerebellar hypoplasia and psychomotor retardation. Few patients with this syndrome have been reported, and significant clinical variations exist among patients. This report describes the first Brazilian case of Revesz syndrome and its ocular and clinical features.
publishDate 2015
dc.date.none.fl_str_mv 2015-04-01
dc.type.driver.fl_str_mv info:eu-repo/semantics/report
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
format report
status_str publishedVersion
dc.identifier.uri.fl_str_mv http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0034-72802015000200110
url http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0034-72802015000200110
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv 10.5935/0034-7280.20150025
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv text/html
dc.publisher.none.fl_str_mv Sociedade Brasileira de Oftalmologia
publisher.none.fl_str_mv Sociedade Brasileira de Oftalmologia
dc.source.none.fl_str_mv Revista Brasileira de Oftalmologia v.74 n.2 2015
reponame:Revista Brasileira de Oftalmologia (Online)
instname:Sociedade Brasileira de Oftalmologia (SBO)
instacron:SBO
instname_str Sociedade Brasileira de Oftalmologia (SBO)
instacron_str SBO
institution SBO
reponame_str Revista Brasileira de Oftalmologia (Online)
collection Revista Brasileira de Oftalmologia (Online)
repository.name.fl_str_mv Revista Brasileira de Oftalmologia (Online) - Sociedade Brasileira de Oftalmologia (SBO)
repository.mail.fl_str_mv sob@sboportal.org.br||rbo@sboportal.org.br
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