title: Enlarged vestibular aqueduct: Looking for genotypic-phenotypic correlations.
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.
authors.affiliation: Grupo de Investigación Otológica (Otologic Research Group), Department of Otorhinolaryngology, Servicio de Otorrinolaringología, Hospital Universitario Puerta de Hierro, Calle San Martín de Porres 4, 28035 Madrid, Spain. joseangelgg@seorl.net
authors.forename: José Angel
authors.initials: JA
authors.lastname: González-García
authors.forename: Andrés
authors.initials: A
authors.lastname: Ibáñez
authors.forename: Rafael
authors.initials: R
authors.lastname: Ramírez-Camacho
authors.forename: Antonio
authors.initials: A
authors.lastname: Rodríguez
authors.forename: José Ramón
authors.initials: JR
authors.lastname: García-Berrocal
authors.forename: Almudena
authors.initials: A
authors.lastname: Trinidad
mesh_terms: D005838:Genotype; D034381:Hearing Loss / Q000235:genetics* / Q000473:pathology*; D006801:Humans; D010641:Phenotype; D014723:Vestibular Aqueduct / Q000002:abnormalities*