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

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

SUBMITTER: Rosa RFM 

PROVIDER: S-EPMC9450788 | biostudies-literature | 2011 Jul-Aug

REPOSITORIES: biostudies-literature