Síndrome de Fraser: relato de caso nas vias lacrimais
Autor(a) principal: | |
---|---|
Data de Publicação: | 2014 |
Outros Autores: | , , , , |
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 |