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Ear abnormalities in patients with oculo-auriculo-vertebral spectrum (Goldenhar syndrome)

ABSTRACT: Oculo-auriculo-vertebral spectrum (OAVS) is a rare condition characterized by the involvement of the first branchial arches. PURPOSE: To investigate the ear abnormalities of a sample of patients with OAVS. MATERIALS AND METHODS: The sample consisted of 12 patients with OAVS seen at the Cli...

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Autores principales: Rosa, Rafael Fabiano Machado, da Silva, Alessandra Pawelec, Goetze, Thayse Bienert, de Almeida Bier, Bianca, de Almeida, Sheila Tamanini, Paskulin, Giorgio Adriano, Zen, Paulo Ricardo Gazzola
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9450788/
https://www.ncbi.nlm.nih.gov/pubmed/21860971
http://dx.doi.org/10.1590/S1808-86942011000400008
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author Rosa, Rafael Fabiano Machado
da Silva, Alessandra Pawelec
Goetze, Thayse Bienert
de Almeida Bier, Bianca
de Almeida, Sheila Tamanini
Paskulin, Giorgio Adriano
Zen, Paulo Ricardo Gazzola
author_facet Rosa, Rafael Fabiano Machado
da Silva, Alessandra Pawelec
Goetze, Thayse Bienert
de Almeida Bier, Bianca
de Almeida, Sheila Tamanini
Paskulin, Giorgio Adriano
Zen, Paulo Ricardo Gazzola
author_sort Rosa, Rafael Fabiano Machado
collection PubMed
description ABSTRACT: Oculo-auriculo-vertebral spectrum (OAVS) is a rare condition characterized by the involvement of the first branchial arches. PURPOSE: To investigate the ear abnormalities of a sample of patients with OAVS. MATERIALS AND METHODS: The sample consisted of 12 patients with OAVS seen at the Clinical Genetics Unit, UFCSPA/CHSCPA. The study included only patients who underwent mastoid computed tomography and with normal karyotype. We performed a review of its clinical features, giving emphasis to the ear findings. RESULTS: Nine patients were male, the ages ranged from 1 day to 17 years. Ear abnormalities were observed in all patients and involved the external (n=12), middle (n=10) and inner ear (n=3). Microtia was the most frequent finding (n=12). The most common abnormalities of the middle ear were: opacification (n=2), displacement (n=2) and malformation of the ossicular chain. Agenesis of the internal auditory canal (n=2) was the most frequent alteration of the inner ear. CONCLUSIONS: Ear abnormalities are variable in patients with OAVS and often there is no correlation between findings in the external, middle and inner ear. The evaluation of these structures is important in the management of individuals with OAVS.
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spelling pubmed-94507882022-09-09 Ear abnormalities in patients with oculo-auriculo-vertebral spectrum (Goldenhar syndrome) Rosa, Rafael Fabiano Machado da Silva, Alessandra Pawelec Goetze, Thayse Bienert de Almeida Bier, Bianca de Almeida, Sheila Tamanini Paskulin, Giorgio Adriano Zen, Paulo Ricardo Gazzola Braz J Otorhinolaryngol Original Article ABSTRACT: Oculo-auriculo-vertebral spectrum (OAVS) is a rare condition characterized by the involvement of the first branchial arches. PURPOSE: To investigate the ear abnormalities of a sample of patients with OAVS. MATERIALS AND METHODS: The sample consisted of 12 patients with OAVS seen at the Clinical Genetics Unit, UFCSPA/CHSCPA. The study included only patients who underwent mastoid computed tomography and with normal karyotype. We performed a review of its clinical features, giving emphasis to the ear findings. RESULTS: Nine patients were male, the ages ranged from 1 day to 17 years. Ear abnormalities were observed in all patients and involved the external (n=12), middle (n=10) and inner ear (n=3). Microtia was the most frequent finding (n=12). The most common abnormalities of the middle ear were: opacification (n=2), displacement (n=2) and malformation of the ossicular chain. Agenesis of the internal auditory canal (n=2) was the most frequent alteration of the inner ear. CONCLUSIONS: Ear abnormalities are variable in patients with OAVS and often there is no correlation between findings in the external, middle and inner ear. The evaluation of these structures is important in the management of individuals with OAVS. Elsevier 2015-10-19 /pmc/articles/PMC9450788/ /pubmed/21860971 http://dx.doi.org/10.1590/S1808-86942011000400008 Text en . https://creativecommons.org/licenses/by/4.0/This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/).
spellingShingle Original Article
Rosa, Rafael Fabiano Machado
da Silva, Alessandra Pawelec
Goetze, Thayse Bienert
de Almeida Bier, Bianca
de Almeida, Sheila Tamanini
Paskulin, Giorgio Adriano
Zen, Paulo Ricardo Gazzola
Ear abnormalities in patients with oculo-auriculo-vertebral spectrum (Goldenhar syndrome)
title Ear abnormalities in patients with oculo-auriculo-vertebral spectrum (Goldenhar syndrome)
title_full Ear abnormalities in patients with oculo-auriculo-vertebral spectrum (Goldenhar syndrome)
title_fullStr Ear abnormalities in patients with oculo-auriculo-vertebral spectrum (Goldenhar syndrome)
title_full_unstemmed Ear abnormalities in patients with oculo-auriculo-vertebral spectrum (Goldenhar syndrome)
title_short Ear abnormalities in patients with oculo-auriculo-vertebral spectrum (Goldenhar syndrome)
title_sort ear abnormalities in patients with oculo-auriculo-vertebral spectrum (goldenhar syndrome)
topic Original Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9450788/
https://www.ncbi.nlm.nih.gov/pubmed/21860971
http://dx.doi.org/10.1590/S1808-86942011000400008
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