Article ; Online: Ear abnormalities in patients with oculo-auriculo-vertebral spectrum (Goldenhar syndrome).
Brazilian journal of otorhinolaryngology
2011 Volume 77, Issue 4, Page(s) 455–460
Abstract: Unlabelled: Oculo-auriculo-vertebral spectrum (OAVS) is a rare condition characterized ... abnormalities were observed in all patients and involved the external (n = 12), middle (n = 10) and inner ear (n ... abnormalities are variable in patients with OAVS and often there is no correlation between findings ...
Abstract | Unlabelled: 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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MeSH term(s) | Adolescent ; Child ; Child, Preschool ; Ear Auricle/abnormalities ; Ear, Inner/abnormalities ; Ear, Middle/abnormalities ; Female ; Goldenhar Syndrome/complications ; Humans ; Infant ; Male ; Severity of Illness Index ; Tomography, X-Ray Computed |
Language | Portuguese |
Publishing date | 2011-07-18 |
Publishing country | Brazil |
Document type | Journal Article |
ZDB-ID | 2428110-4 |
ISSN | 1808-8686 ; 1808-8694 |
ISSN (online) | 1808-8686 |
ISSN | 1808-8694 |
DOI | 10.1590/S1808-86942011000400008 |
Database | MEDical Literature Analysis and Retrieval System OnLINE |
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