Congenital middle ear abnormalities with absence of the oval window: diagnosis, surgery, and audiometric outcomes.

Objective: Congenital absence of the oval window (CAOW) is a rare condition in which the stapes footplate fails to develop, resulting in a significant conductive hearing loss in the affected ear. The purpose of this study was to describe the surgical management and outcomes of patients with CAOW undergoing the oval window drill-out (OWD) procedure.

Materials And Methods: A retrospective chart review of patients with CAOW between 1996 and 2011 was performed.

A novel mutation in the TECTA gene in a Chinese family with autosomal dominant nonsyndromic hearing loss.

TECTA-related deafness can be inherited as autosomal-dominant nonsyndromic deafness (designated DFNA) or as the autosomal-recessive version. The α-tectorin protein, which is encoded by the TECTA gene, is one of the major components of the tectorial membrane in the inner ear. Using targeted DNA capture and massively parallel sequencing (MPS), we screened 42 genes known to be responsible for human deafness in a Chinese family (Family 3187) in which common deafness mutations had been ruled out as the cause, and identified a novel mutation, c.

Novel compound heterozygous mutations in the MYO15A gene in autosomal recessive hearing loss identified by whole-exome sequencing.

Background: Inherited genetic defects play an important role in congenital hearing loss, contributing to about 60% of deafness occurring in infants. Hereditary nonsyndromic hearing loss is highly heterogeneous, and most patients with a presumed genetic etiology lack a specific molecular diagnosis.

Methods: By whole exome sequencing, we identified responsible gene of family 4794 with autosomal recessively nonsyndromic hearing loss (ARNSHL).

Novel compound heterozygous TMC1 mutations associated with autosomal recessive hearing loss in a Chinese family.

Hereditary nonsyndromic hearing loss is highly heterogeneous and most patients with a presumed genetic etiology lack a specific diagnosis. It has been estimated that several hundred genes may be associated with this sensory deficit in humans. Here, we identified compound heterozygous mutations in the TMC1 gene as the cause of recessively inherited sensorineural hearing loss by using whole-exome sequencing in a family with two deaf siblings.

Aberrant internal carotid artery causing objective pulsatile tinnitus and conductive hearing loss.

Aberrant internal carotid artery (ICA) in the middle ear is a rare, dangerous vascular anomaly and conservative follow-up was usually adopted in most reported cases. Here we report the case of an 8-year-old girl with symptoms of objective pulsatile tinnitus and conductive hearing loss in the right ear. Otoscopic examination, computed tomography, and conventional angiography were performed.

Intraoperative CT-guided cochlear implantation in congenital ear deformity.

Conclusions: Intraoperative computed tomography (iCT)-guided cochlear implantation is practical and effective for correct electrode placement in the cochlea of patients with congenital inner ear and/or complex middle ear malformation.

Objectives: The operation in patients with inner ear and/or complex middle ear malformation including abnormal facial nerve course is difficult. This study evaluated the efficacy of cochlear implantation under the guidance of iCT to insure correct electrode placement.