OBJECTIVES/HYPOTHESIS Enlarged vestibular aqueduct (EVA) and hearing loss are known to be caused by SLC26A4 mutations, but large phenotypic variability exists among patients with biallelic SLC26A4 mutations. Intrafamilial phenotypic variability was analyzed in multiplex EVA families carrying biallelic SLC26A4 mutations to identify the contribution of SLC26A4 mutations and other genetic or envir...

A CT study was performed on 8 foetuses aged between 20 and 38 weeks. In foetuses at the 20th week the semicircular canals, the spiral canal of the cochlea and the initial (labyrinthine) part of the facial canal are visible. At week 24 the tympanic part of the facial canal is observed. In the 31st week the cochlea is divided into 2 compartments, and in the 38th week the vestibular aqueduct and o...

Abstract Background The most common radiologically detectable congenital inner ear anomaly is an enlarged vestibular aqueduct (EVA), which associated with varying degrees of hearing loss and disorders. purpose this study was to ascertain the incidence in hearing-impaired children sent a tertiary care referral center, as well describe audiologic pattern EVA those individuals. Results In retrospe...

Abstract Enlarged vestibular aqueduct (EVA) is a common finding in tomodensitometry. When cranial MRI performed, enlarged endolymphatic sac (EES) can also be found. Profound hearing loss these patients but few studies have investigated function after cochlear implantation (CI) EVA and EES patients. Our main objective was to find out whether children candidates CI, higher (ES) volume predictive ...

The human gene SLC26A4 and the mouse ortholog Slc26a4 code for the protein pendrin, which is an anion exchanger expressed in apical membranes of selected epithelia. In the inner ear, pendrin is expressed in the cochlea, the vestibular labyrinth and the endolymphatic sac. Loss-of-function and hypo-functional mutations cause an enlargement of the vestibular aqueduct (EVA) and sensorineural hearin...

Although enlarged vestibular aqueduct syndrome (EVAS) has been reported to be one of the most common anomalies associated with sensorineural hearing loss, the mechanism of such loss is unclear, and there are no established criteria for diagnosis. We report 4 patients with sensorineural hearing loss that were diagnosed during the last year in our department of EVAS. We review the diagnostic crit...

OBJECTIVES/HYPOTHESIS Pathologic third window lesions, such as superior semicircular canal dehiscence syndrome (SCDS) or large vestibular aqueduct syndrome (LVAS), cause several auditory and vestibular symptoms, which might affect perilymphatic pressure and induce endolymphatic hydrops (EH). In this study, the existence of EH in subjects with SCDS or LVAS was investigated using contrast-enhance...