Inner ear abnormalities in patients with Goldenhar syndrome

Abstract

Objective: The objective of this study is to investigate the inner ear malformations in patients with Goldenhar syndrome and to hypothesize the potential embryopathogenesis of these malformations.

Study design: Retrospective case review.

Setting: Tertiary referral center.

Patients: Fourteen patients with Goldenhar syndrome.

Interventions: Each patient underwent hearing tests and high-resolution computed tomography (CT) of the temporal bone. In six patients, magnetic resonance imaging of the temporal bone also was performed.

Results: Among the 14 patients with Goldenhar syndrome, 13 had outer and middle ear anomalies and 5 (36%) had inner ear malformations, including one case of common cavity.

Conclusions: Our observations regarding inner ear anomalies in Goldenhar syndrome correlate with the reported cases in the literature and may help to hypothesize the embryological origin of these malformations, which can caused by an early developmental arrest in the fourth gestational week. Specialists evaluating patients with Goldenhar syndrome should be aware of the possibility of inner ear malformations, which could be diagnosed earlier with appropriate imaging studies.