Enlarged Vestibular Aqueduct: Looking for Genotypic-phenotypic Correlations

Overview

Journal Eur Arch Otorhinolaryngol

Specialty Otorhinolaryngology

Date 2006 Jul 11

PMID 16830115

Citations 5

Authors

Jose Angel Gonzalez-Garcia

Andres Ibanez

Rafael Ramirez-Camacho

Antonio Rodriguez

Jose Ramon Garcia-Berrocal

Almudena Trinidad

Affiliations

Soon will be listed here.

Abstract

The aim of this work is to provide a guide for clinical and genetic diagnosis and classification of the enlarged vestibular aqueduct syndrome based on a review of the literature and computerized databases with the words large and enlarged vestibular aqueduct. No more than 40 articles described association between the EVA phenotype and a known genetic alteration. Pendred's syndrome, distal renal tubular acidosis, waardenburg's syndrome, X-linked congenital mixed deafness, branchio-oto-renal syndrome, and oto-facio-cervical syndrome can express their genotypic alteration as enlarged vestibular aqueduct syndrome. We also found articles reporting familiar cases of enlarged vestibular aqueduct with no identified mutations in studied genes.

Citing Articles

Genetic Determinants of Non-Syndromic Enlarged Vestibular Aqueduct: A Review.

Roesch S, Rasp G, Sarikas A, Dossena S Audiol Res. 2021; 11(3):423-442.

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Cerebrospinal Fluid Leak in Cochlear Implantation: Enlarged Cochlear versus Enlarged Vestibular Aqueduct (Common Cavity Excluded).

Bianchin G, Polizzi V, Formigoni P, Russo C, Tribi L Int J Otolaryngol. 2016; 2016:6591684.

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Diagnostic yield of computed tomography scan for pediatric hearing loss: a systematic review.

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Andreucci E, Bianchi B, Carboni I, Lavoratti G, Mortilla M, Fonda C Pediatr Nephrol. 2009; 24(11):2147-53.

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Imaging of congenital anomalies and acquired lesions of the inner ear.

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