Dataset Information

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 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.

SUBMITTER: Rosa RFM

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

REPOSITORIES: biostudies-literature

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Publications

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

Rosa Rafael Fabiano Machado RFM da Silva Alessandra Pawelec AP Goetze Thayse Bienert TB de Almeida Bier Bianca B de Almeida Sheila Tamanini ST Paskulin Giorgio Adriano GA Zen Paulo Ricardo Gazzola PRG

Brazilian journal of otorhinolaryngology 20110701 4

<h4>Unlabelled</h4>Oculo-auriculo-vertebral spectrum (OAVS) is a rare condition characterized by the involvement of the first branchial arches.<h4>Purpose</h4>To investigate the ear abnormalities of a sample of patients with OAVS.<h4>Materials and methods</h4>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 fea ...[more]

PMID: 21860971

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Project description:Background and purposeCranial nerve abnormalities might be observed in hemifacial microsomia and microtia (oculo-auriculo-vertebral spectrum), but the rate, features, and relationship with functional impairment or phenotype severity have not yet been defined. This study aimed at investigating absence/asymmetry, abnormal origin, morphology and course of cranial nerves, and presence/asymmetry of the foramen ovale and inferior alveolar nerve canal in a cohort of oculo-auriculo-vertebral spectrum patients.Materials and methodsTwenty-nine patients with oculo-auriculo-vertebral spectrum (mean age, 7 years; age range, 0.2-31 years; 12 females) underwent brain MR imaging, CT, and neurologic evaluation; 19 patients had a more severe phenotype (Goldenhar syndrome).ResultsCranial nerve abnormalities were detected only in patients with Goldenhar syndrome (17/19, bilaterally in 8) and were involved the second (4/19), third (1/18), fifth (11/19), sixth (8/16), seventh (11/18), and eighth (8/18) cranial nerves. Multiple cranial nerve abnormalities were common (11/17). Eleven patients showed bone foramina abnormalities. Trigeminal and facial nerve dysfunctions were common (44% and 58%, respectively), especially in patients with Goldenhar syndrome. Trigeminal abnormalities showed a good correlation with ipsilateral dysfunction (P = .018), which further increased when bone foramina abnormalities were included. The facial nerve showed a trend toward correlation with ipsilateral dysfunction (P = .081). Diplopia was found only in patients with Goldenhar syndrome and was associated with third and sixth cranial nerve abnormalities (P = .006).ConclusionsAmong patients with oculo-auriculo-vertebral spectrum, cranial nerve morphologic abnormalities are common, correlate with phenotype severity, and often entail a functional impairment. The spectrum of cranial nerve abnormalities appears wider than simple hypo-/aplasia and includes an anomalous cisternal course and partial/complete fusion of diverse cranial nerves.

Dataset Information

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

Unlabelled

Purpose

Materials and methods

Results

Conclusions

Publications

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

Similar Datasets

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