Enlarged vestibular aqueduct: Looking for genotypic-phenotypic correlations

José Angel González-García, Andrés Ibáñez, Rafael Ramírez-Camacho, Antonio Rodríguez, José Ramón García-Berrocal, Almudena Trinidad
European Archives of Oto-rhino-laryngology 2006, 263 (11): 971-6
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.

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