Enlarged vestibular aqueduct: looking for genotypic–phenotypic correlations |
| |
Authors: | José Ángel González-García Andrés Ibáñez Rafael Ramírez-Camacho Antonio Rodríguez José Ramón García-Berrocal Almudena Trinidad |
| |
Affiliation: | (1) 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 |
| |
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. |
| |
Keywords: | Vestibular aqueduct Endolymphatic sac Hearing loss Inner ear Abnormalities |
本文献已被 SpringerLink 等数据库收录! |
|