Revesz syndrome

Revesz syndrome

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 hy...

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Main Authors: Dayane Cristine Issaho, Ana Tereza Ramos Moreira, Lisandro Lima Ribeiro, Rommel Josué Zago, Christie Graf Ribeiro
Format: Article
Language:English
Published: Sociedade Brasileira de Oftalmologia 2015-04-01
Series:Revista Brasileira de Oftalmologia
Subjects:
Disceratose congenital/diagnóstico
Hemorragia retiniana
Anemia aplástica
Relatos de casos
Online Access:http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0034-72802015000200110&lng=en&tlng=en
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spelling doaj-16ad9f31246f485596f3de61c23c50892020-11-24T21:24:27ZengSociedade Brasileira de OftalmologiaRevista Brasileira de Oftalmologia1982-85512015-04-0174211011210.5935/0034-7280.20150025S0034-72802015000200110Revesz syndromeDayane Cristine IssahoAna Tereza Ramos MoreiraLisandro Lima RibeiroRommel Josué ZagoChristie Graf RibeiroRevesz 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.http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0034-72802015000200110&lng=en&tlng=enDisceratose congenital/diagnósticoHemorragia retinianaAnemia aplásticaRelatos de casos
collection DOAJ
language English
format Article
sources DOAJ
author Dayane Cristine Issaho
Ana Tereza Ramos Moreira
Lisandro Lima Ribeiro
Rommel Josué Zago
Christie Graf Ribeiro
spellingShingle Dayane Cristine Issaho
Ana Tereza Ramos Moreira
Lisandro Lima Ribeiro
Rommel Josué Zago
Christie Graf Ribeiro
Revesz syndrome
Revista Brasileira de Oftalmologia
Disceratose congenital/diagnóstico
Hemorragia retiniana
Anemia aplástica
Relatos de casos
author_facet Dayane Cristine Issaho
Ana Tereza Ramos Moreira
Lisandro Lima Ribeiro
Rommel Josué Zago
Christie Graf Ribeiro
author_sort Dayane Cristine Issaho
title Revesz syndrome
title_short Revesz syndrome
title_full Revesz syndrome
title_fullStr Revesz syndrome
title_full_unstemmed Revesz syndrome
title_sort revesz syndrome
publisher Sociedade Brasileira de Oftalmologia
series Revista Brasileira de Oftalmologia
issn 1982-8551
publishDate 2015-04-01
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.
topic Disceratose congenital/diagnóstico
Hemorragia retiniana
Anemia aplástica
Relatos de casos
url http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0034-72802015000200110&lng=en&tlng=en
work_keys_str_mv AT dayanecristineissaho reveszsyndrome
AT anaterezaramosmoreira reveszsyndrome
AT lisandrolimaribeiro reveszsyndrome
AT rommeljosuezago reveszsyndrome
AT christiegrafribeiro reveszsyndrome
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