Malformations of bony inner ear are rare anomalies occurring in approximately 20% of patients with congenital sensorineural hearing loss. Conductive hearing loss is usually associated with abnormalities of the external and middle ear. Recent reports of patients with lateral semicircular canal malformations indicate inner ear malformations to be associated with sensorineural or conductive hearin...

UNLABELLED Oculo-auriculo-vertebral spectrum (OAVS) is a rare condition characterized by the involvement of the first branchial arches. PURPOSE To investigate the ear abnormalities of a sample of patients with OAVS. MATERIALS AND METHODS The sample consisted of 12 patients with OAVS seen at the Clinical Genetics Unit, UFCSPA/CHSCPA. The study included only patients who underwent mastoid com...

OBJECTIVES/HYPOTHESIS To assess the hearing status of trisomy 21 patients by analyzing electrophysiological and radiological findings of any correlation between hearing impairment and major or minor inner ear malformations. STUDY DESIGN Prospective radiological and electrophysiological study. METHODS A group of 34 ears of Down syndrome subjects and 20 ears of a volunteer age- and sex-matche...

Hair cells of the inner ear, the mechanosensory receptors, convert sound waves into neural signals that are passed to the brain via the auditory nerve. Little is known about the molecular mechanisms that govern the development of hair cell-neuronal connections. We ascertained a family with autosomal recessive deafness associated with a common cavity inner ear malformation and auditory neuropath...

the aim of the current study is to investigate hearing function in patients with allergic rhinitis. fifty-eight patients with positive skin prick test (group 1) (116 ears) and    31 subjects with negative skin prick test (62 ears) as group 2 were included. pure tone audiometry at 250,500, 1000, 2000, 4000 and 8000 hz and immittance measures, including tympanometry and acoustic reflex tests, wer...

Mutations of SLC26A4 are associated with incomplete partition type II (IP-II) and isolated enlargement of the vestibular aqueduct (EVA). We experienced a congenitally deaf 6-year-old boy with a rare p.Thr410Met homozygous mutation in SLC26A4 who underwent bilateral cochlear implantation. He had bilateral inner ear malformation, in which the dilated vestibule and EVA were identical to those in I...

Objective: To identify congenital malformations of temporal bone and more particularly the inner ear in DiGeorge syndrome. Methods: We conducted a retrospective study from January 2003 to December 2011 at Rouen University Hospital. Temporal bone Computed tomography (CT) images of 13 patients with genetically confirmed DiGeorge syndrome were extracted from the database and systematically reviewe...

OBJECTIVE/HYPOTHESIS To assess the audiologic and surgical outcomes for pediatric cochlear implant patients with inner ear malformations. STUDY DESIGN Retrospective review of 315 pediatric cochlear implant cases from 1994 to 2002. METHODS Twenty-eight pediatric cochlear implant patients with known inner ear malformations determined on high-resolution computed tomography (HRCT) of the tempor...