Anatomical changes and audiological profile in branchio-oto-renal syndrome: a literature review
Autor(a) principal: | |
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Data de Publicação: | 2014 |
Outros Autores: | , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Repositório Institucional da UNESP |
Texto Completo: | http://dx.doi.org/10.1055/s-0033-1358659 http://hdl.handle.net/11449/109687 |
Resumo: | Introduction Branchio-oto-renal (BOR) syndrome is an autosomal-dominant genetic condition with high penetrance and variable expressivity, with an estimated prevalence of 1 in 40,000. Approximately 40% of the patients with the syndrome have mutations in the gene EYA1, located at chromosomal region 8q13.3, and 5% have mutations in the gene SIX5 in chromosome region 19q13. The phenotype of this syndrome is characterized by preauricular fistulas; structural malformations of the external, middle, and inner ears; branchial fistulas; renal disorders; cleft palate; and variable type and degree of hearing loss. Aim Hearing loss is part of BOR syndrome phenotype. The aim of this study was to present a literature review on the anatomical aspects and audiological profile of BOR syndrome. Data Synthesis Thirty-four studies were selected for analysis. Some aspects when specifying the phenotype of BOR syndrome are controversial, especially those issues related to the audiological profile in which there was variability on auditory standard, hearing loss progression, and type and degree of the hearing loss. Mixed loss was the most common type of hearing loss among the studies; however, there was no consensus among studies regarding the degree of the hearing loss. |
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Anatomical changes and audiological profile in branchio-oto-renal syndrome: a literature reviewbranchio-oto-renal syndromeBOR syndromehearingreviewIntroduction Branchio-oto-renal (BOR) syndrome is an autosomal-dominant genetic condition with high penetrance and variable expressivity, with an estimated prevalence of 1 in 40,000. Approximately 40% of the patients with the syndrome have mutations in the gene EYA1, located at chromosomal region 8q13.3, and 5% have mutations in the gene SIX5 in chromosome region 19q13. The phenotype of this syndrome is characterized by preauricular fistulas; structural malformations of the external, middle, and inner ears; branchial fistulas; renal disorders; cleft palate; and variable type and degree of hearing loss. Aim Hearing loss is part of BOR syndrome phenotype. The aim of this study was to present a literature review on the anatomical aspects and audiological profile of BOR syndrome. Data Synthesis Thirty-four studies were selected for analysis. Some aspects when specifying the phenotype of BOR syndrome are controversial, especially those issues related to the audiological profile in which there was variability on auditory standard, hearing loss progression, and type and degree of the hearing loss. Mixed loss was the most common type of hearing loss among the studies; however, there was no consensus among studies regarding the degree of the hearing loss.Universidade Estadual Paulista Department of Speech PathologyUniversidade Estadual Paulista Department of Speech PathologyFundação OtorrinolaringologiaUniversidade Estadual Paulista (Unesp)Lindau, Tâmara Andrade [UNESP]Cardoso, Ana Cláudia Vieira [UNESP]Rossi, Natalia Freitas [UNESP]Giacheti, Célia Maria [UNESP]2014-09-30T18:18:34Z2014-09-30T18:18:34Z2014-01-01info:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/article068-076application/pdfhttp://dx.doi.org/10.1055/s-0033-1358659International Archives of Otorhinolaryngology. Fundação Otorrinolaringologia, v. 18, n. 1, p. 068-076, 2014.1809-4864http://hdl.handle.net/11449/10968710.1055/s-0033-1358659S1809-48642014000100068S1809-48642014000100068.pdf30258980456435002331180822532901SciELOreponame:Repositório Institucional da UNESPinstname:Universidade Estadual Paulista (UNESP)instacron:UNESPengInternational Archives of Otorhinolaryngology0,468info:eu-repo/semantics/openAccess2024-08-09T17:39:46Zoai:repositorio.unesp.br:11449/109687Repositório InstitucionalPUBhttp://repositorio.unesp.br/oai/requestopendoar:29462024-08-09T17:39:46Repositório Institucional da UNESP - Universidade Estadual Paulista (UNESP)false |
dc.title.none.fl_str_mv |
Anatomical changes and audiological profile in branchio-oto-renal syndrome: a literature review |
title |
Anatomical changes and audiological profile in branchio-oto-renal syndrome: a literature review |
spellingShingle |
Anatomical changes and audiological profile in branchio-oto-renal syndrome: a literature review Lindau, Tâmara Andrade [UNESP] branchio-oto-renal syndrome BOR syndrome hearing review |
title_short |
Anatomical changes and audiological profile in branchio-oto-renal syndrome: a literature review |
title_full |
Anatomical changes and audiological profile in branchio-oto-renal syndrome: a literature review |
title_fullStr |
Anatomical changes and audiological profile in branchio-oto-renal syndrome: a literature review |
title_full_unstemmed |
Anatomical changes and audiological profile in branchio-oto-renal syndrome: a literature review |
title_sort |
Anatomical changes and audiological profile in branchio-oto-renal syndrome: a literature review |
author |
Lindau, Tâmara Andrade [UNESP] |
author_facet |
Lindau, Tâmara Andrade [UNESP] Cardoso, Ana Cláudia Vieira [UNESP] Rossi, Natalia Freitas [UNESP] Giacheti, Célia Maria [UNESP] |
author_role |
author |
author2 |
Cardoso, Ana Cláudia Vieira [UNESP] Rossi, Natalia Freitas [UNESP] Giacheti, Célia Maria [UNESP] |
author2_role |
author author author |
dc.contributor.none.fl_str_mv |
Universidade Estadual Paulista (Unesp) |
dc.contributor.author.fl_str_mv |
Lindau, Tâmara Andrade [UNESP] Cardoso, Ana Cláudia Vieira [UNESP] Rossi, Natalia Freitas [UNESP] Giacheti, Célia Maria [UNESP] |
dc.subject.por.fl_str_mv |
branchio-oto-renal syndrome BOR syndrome hearing review |
topic |
branchio-oto-renal syndrome BOR syndrome hearing review |
description |
Introduction Branchio-oto-renal (BOR) syndrome is an autosomal-dominant genetic condition with high penetrance and variable expressivity, with an estimated prevalence of 1 in 40,000. Approximately 40% of the patients with the syndrome have mutations in the gene EYA1, located at chromosomal region 8q13.3, and 5% have mutations in the gene SIX5 in chromosome region 19q13. The phenotype of this syndrome is characterized by preauricular fistulas; structural malformations of the external, middle, and inner ears; branchial fistulas; renal disorders; cleft palate; and variable type and degree of hearing loss. Aim Hearing loss is part of BOR syndrome phenotype. The aim of this study was to present a literature review on the anatomical aspects and audiological profile of BOR syndrome. Data Synthesis Thirty-four studies were selected for analysis. Some aspects when specifying the phenotype of BOR syndrome are controversial, especially those issues related to the audiological profile in which there was variability on auditory standard, hearing loss progression, and type and degree of the hearing loss. Mixed loss was the most common type of hearing loss among the studies; however, there was no consensus among studies regarding the degree of the hearing loss. |
publishDate |
2014 |
dc.date.none.fl_str_mv |
2014-09-30T18:18:34Z 2014-09-30T18:18:34Z 2014-01-01 |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article |
format |
article |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
http://dx.doi.org/10.1055/s-0033-1358659 International Archives of Otorhinolaryngology. Fundação Otorrinolaringologia, v. 18, n. 1, p. 068-076, 2014. 1809-4864 http://hdl.handle.net/11449/109687 10.1055/s-0033-1358659 S1809-48642014000100068 S1809-48642014000100068.pdf 3025898045643500 2331180822532901 |
url |
http://dx.doi.org/10.1055/s-0033-1358659 http://hdl.handle.net/11449/109687 |
identifier_str_mv |
International Archives of Otorhinolaryngology. Fundação Otorrinolaringologia, v. 18, n. 1, p. 068-076, 2014. 1809-4864 10.1055/s-0033-1358659 S1809-48642014000100068 S1809-48642014000100068.pdf 3025898045643500 2331180822532901 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
International Archives of Otorhinolaryngology 0,468 |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
068-076 application/pdf |
dc.publisher.none.fl_str_mv |
Fundação Otorrinolaringologia |
publisher.none.fl_str_mv |
Fundação Otorrinolaringologia |
dc.source.none.fl_str_mv |
SciELO reponame:Repositório Institucional da UNESP instname:Universidade Estadual Paulista (UNESP) instacron:UNESP |
instname_str |
Universidade Estadual Paulista (UNESP) |
instacron_str |
UNESP |
institution |
UNESP |
reponame_str |
Repositório Institucional da UNESP |
collection |
Repositório Institucional da UNESP |
repository.name.fl_str_mv |
Repositório Institucional da UNESP - Universidade Estadual Paulista (UNESP) |
repository.mail.fl_str_mv |
|
_version_ |
1808128181912207360 |