Síndrome de Fraser: relato de caso nas vias lacrimais

Detalhes bibliográficos
Autor(a) principal: Lorena, Silvia Helena Tavares
Data de Publicação: 2014
Outros Autores: Gonçalves, Eliana Domingues, Machado, Marco Antonio de Campos [UNIFESP], Jablinski, Cláudio Enrique Cuadros, Briceño, César Augusto, Silva, João Amaro Ferrari
Tipo de documento: Artigo
Idioma: por
Título da fonte: Repositório Institucional da UNIFESP
Texto Completo: http://dx.doi.org/10.5935/0034-7280.20140028
http://repositorio.unifesp.br/handle/11600/8329
Resumo: Fraser syndrome is a systemic condition characterized by cryptophthalmos, syndactyly and abnormal genitalia, which may be associated with urinary tract, ear, nose, larynx and skeletal abnormalities. Cryptophthalmos can be an isolated finding (that has been reported as an autosomal dominant trait) or associated with other congenital anomalies (reported as an autosomal recessive disorder). Child, female, nine month of life, evaluated in the lacrimal setor of Federal University of São Paulo. Child of consanguineous parents. Her physical examination showed total unilateral cryptophthalmos (left side), epiphora (right side) with mucopurulent discharge, depressed nasal bridge, low set ears, atresia of the external auditory canal, prominent labia majora and syndactyly of the fingers and toes. Ocular ultrasonography showed brachycephaly, absence of septu pellucidum prominence of the lateral ventricles, a major bone defect in the skull, the presence of thinning of the mantle tissue of the brain,a reduced anterior-posterior ocular diameter, anterior segment disorganization, absence of the lens and total retinal detachment in the left eye.
id UFSP_9b04220fe69005838bcce6306ff629a1
oai_identifier_str oai:repositorio.unifesp.br/:11600/8329
network_acronym_str UFSP
network_name_str Repositório Institucional da UNIFESP
repository_id_str 3465
spelling Síndrome de Fraser: relato de caso nas vias lacrimaisFraser Syndrome: case report in lacrimal systemLacrimal duct obstruction/congenitalDacryocystitisSyndromeCase reportsObstrução dos ductos lacrimais/congênitoDacriocistiteSíndromeRelatos de casosFraser syndrome is a systemic condition characterized by cryptophthalmos, syndactyly and abnormal genitalia, which may be associated with urinary tract, ear, nose, larynx and skeletal abnormalities. Cryptophthalmos can be an isolated finding (that has been reported as an autosomal dominant trait) or associated with other congenital anomalies (reported as an autosomal recessive disorder). Child, female, nine month of life, evaluated in the lacrimal setor of Federal University of São Paulo. Child of consanguineous parents. Her physical examination showed total unilateral cryptophthalmos (left side), epiphora (right side) with mucopurulent discharge, depressed nasal bridge, low set ears, atresia of the external auditory canal, prominent labia majora and syndactyly of the fingers and toes. Ocular ultrasonography showed brachycephaly, absence of septu pellucidum prominence of the lateral ventricles, a major bone defect in the skull, the presence of thinning of the mantle tissue of the brain,a reduced anterior-posterior ocular diameter, anterior segment disorganization, absence of the lens and total retinal detachment in the left eye.A síndrome de Fraser é uma condição sistêmica caracterizada por criptoftalmo, sindactilia e anomalia da genitália, podendo se associar com alterações dos rins, do ouvido, do nariz, da laringe e do esqueleto. O criptoftalmo pode representar um achado isolado, representado por herança autossômica dominante, associado a outras anomalias congênitas, relatado como herança autossômica recessiva. Criança do sexo feminino, 9 meses, avaliada no ambulatório de vias lacrimais da Universidade Federal de São Paulo. Filha de pais consanguíneos. Ao exame, foram observados criptoftalmo total à esquerda, epífora em olho direito associada à secreção mucopurulenta, nariz em sela, implantação baixa das orelhas, malformação de conduto auditivo, aumento de grandes lábios e sindactilia de mãos e pés. A tomografia de crânio evidenciou braquicefalia ausência de septo pelúcido, proeminência dos ventrículos laterais, importante falha óssea na calota craniana, presença de afilamento do manto tecidual cerebral, fossa posterior pequena, desorganização do segmento anterior, afacia e descolamento total da retina.Universidade Federal de São Paulo (UNIFESP) Setor de Vias LacrimaisUniversidade Federal de São Paulo (UNIFESP)Michigan UniversityUNIFESP, Setor de Vias LacrimaisUNIFESPSciELOSociedade Brasileira de OftalmologiaUniversidade Federal de São Paulo (UNIFESP)Michigan UniversityLorena, Silvia Helena TavaresGonçalves, Eliana DominguesMachado, Marco Antonio de Campos [UNIFESP]Jablinski, Cláudio Enrique CuadrosBriceño, César AugustoSilva, João Amaro Ferrari2015-06-14T13:47:02Z2015-06-14T13:47:02Z2014-04-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersion123-125application/pdfhttp://dx.doi.org/10.5935/0034-7280.20140028Revista Brasileira de Oftalmologia. Sociedade Brasileira de Oftalmologia, v. 73, n. 2, p. 123-125, 2014.10.5935/0034-7280.20140028S0034-72802014000200123.pdf0034-7280S0034-72802014000200123http://repositorio.unifesp.br/handle/11600/8329porRevista Brasileira de Oftalmologiainfo:eu-repo/semantics/openAccessreponame:Repositório Institucional da UNIFESPinstname:Universidade Federal de São Paulo (UNIFESP)instacron:UNIFESP2024-08-05T18:52:20Zoai:repositorio.unifesp.br/:11600/8329Repositório InstitucionalPUBhttp://www.repositorio.unifesp.br/oai/requestbiblioteca.csp@unifesp.bropendoar:34652024-08-05T18:52:20Repositório Institucional da UNIFESP - Universidade Federal de São Paulo (UNIFESP)false
dc.title.none.fl_str_mv Síndrome de Fraser: relato de caso nas vias lacrimais
Fraser Syndrome: case report in lacrimal system
title Síndrome de Fraser: relato de caso nas vias lacrimais
spellingShingle Síndrome de Fraser: relato de caso nas vias lacrimais
Lorena, Silvia Helena Tavares
Lacrimal duct obstruction/congenital
Dacryocystitis
Syndrome
Case reports
Obstrução dos ductos lacrimais/congênito
Dacriocistite
Síndrome
Relatos de casos
title_short Síndrome de Fraser: relato de caso nas vias lacrimais
title_full Síndrome de Fraser: relato de caso nas vias lacrimais
title_fullStr Síndrome de Fraser: relato de caso nas vias lacrimais
title_full_unstemmed Síndrome de Fraser: relato de caso nas vias lacrimais
title_sort Síndrome de Fraser: relato de caso nas vias lacrimais
author Lorena, Silvia Helena Tavares
author_facet Lorena, Silvia Helena Tavares
Gonçalves, Eliana Domingues
Machado, Marco Antonio de Campos [UNIFESP]
Jablinski, Cláudio Enrique Cuadros
Briceño, César Augusto
Silva, João Amaro Ferrari
author_role author
author2 Gonçalves, Eliana Domingues
Machado, Marco Antonio de Campos [UNIFESP]
Jablinski, Cláudio Enrique Cuadros
Briceño, César Augusto
Silva, João Amaro Ferrari
author2_role author
author
author
author
author
dc.contributor.none.fl_str_mv Universidade Federal de São Paulo (UNIFESP)
Michigan University
dc.contributor.author.fl_str_mv Lorena, Silvia Helena Tavares
Gonçalves, Eliana Domingues
Machado, Marco Antonio de Campos [UNIFESP]
Jablinski, Cláudio Enrique Cuadros
Briceño, César Augusto
Silva, João Amaro Ferrari
dc.subject.por.fl_str_mv Lacrimal duct obstruction/congenital
Dacryocystitis
Syndrome
Case reports
Obstrução dos ductos lacrimais/congênito
Dacriocistite
Síndrome
Relatos de casos
topic Lacrimal duct obstruction/congenital
Dacryocystitis
Syndrome
Case reports
Obstrução dos ductos lacrimais/congênito
Dacriocistite
Síndrome
Relatos de casos
description Fraser syndrome is a systemic condition characterized by cryptophthalmos, syndactyly and abnormal genitalia, which may be associated with urinary tract, ear, nose, larynx and skeletal abnormalities. Cryptophthalmos can be an isolated finding (that has been reported as an autosomal dominant trait) or associated with other congenital anomalies (reported as an autosomal recessive disorder). Child, female, nine month of life, evaluated in the lacrimal setor of Federal University of São Paulo. Child of consanguineous parents. Her physical examination showed total unilateral cryptophthalmos (left side), epiphora (right side) with mucopurulent discharge, depressed nasal bridge, low set ears, atresia of the external auditory canal, prominent labia majora and syndactyly of the fingers and toes. Ocular ultrasonography showed brachycephaly, absence of septu pellucidum prominence of the lateral ventricles, a major bone defect in the skull, the presence of thinning of the mantle tissue of the brain,a reduced anterior-posterior ocular diameter, anterior segment disorganization, absence of the lens and total retinal detachment in the left eye.
publishDate 2014
dc.date.none.fl_str_mv 2014-04-01
2015-06-14T13:47:02Z
2015-06-14T13:47:02Z
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.uri.fl_str_mv http://dx.doi.org/10.5935/0034-7280.20140028
Revista Brasileira de Oftalmologia. Sociedade Brasileira de Oftalmologia, v. 73, n. 2, p. 123-125, 2014.
10.5935/0034-7280.20140028
S0034-72802014000200123.pdf
0034-7280
S0034-72802014000200123
http://repositorio.unifesp.br/handle/11600/8329
url http://dx.doi.org/10.5935/0034-7280.20140028
http://repositorio.unifesp.br/handle/11600/8329
identifier_str_mv Revista Brasileira de Oftalmologia. Sociedade Brasileira de Oftalmologia, v. 73, n. 2, p. 123-125, 2014.
10.5935/0034-7280.20140028
S0034-72802014000200123.pdf
0034-7280
S0034-72802014000200123
dc.language.iso.fl_str_mv por
language por
dc.relation.none.fl_str_mv Revista Brasileira de Oftalmologia
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv 123-125
application/pdf
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 reponame:Repositório Institucional da UNIFESP
instname:Universidade Federal de São Paulo (UNIFESP)
instacron:UNIFESP
instname_str Universidade Federal de São Paulo (UNIFESP)
instacron_str UNIFESP
institution UNIFESP
reponame_str Repositório Institucional da UNIFESP
collection Repositório Institucional da UNIFESP
repository.name.fl_str_mv Repositório Institucional da UNIFESP - Universidade Federal de São Paulo (UNIFESP)
repository.mail.fl_str_mv biblioteca.csp@unifesp.br
_version_ 1814268365011681280