Abstract Objectives/Hypothesis: To evaluate outcomes after cochlear implantation in
children with anomalous cochleovestibular anatomy, a review of radiological classification …

Mutations of coding regions and splice sites of SLC26A4 cause Pendred syndrome and
nonsyndromic recessive hearing loss DFNB4. SLC26A4 encodes pendrin, a …

The external ear or pinna (auricle) collects sound, which passes along the external auditory
canal to the eardrum (tympanic membrane)(Fig. 2.1). The middle ear (tympanum) is a cavity …

Enlarged vestibular aqueduct (EVA), known as the most common form of inner ear
abnormality, has recently been of particular genetic interest because this anomaly is …

Pendred's syndrome is an autosomal-recessive disorder characterized by deafness and
goiter. After our recent identification of the human gene mutated in Pendred's syndrome …

METHODS Subjects Our subjects consisted of 39 affected subjects with EVA and their
unaffected relatives from 31 families. A total of 84% of these families were Caucasian …

Gross motor development, and the effect of age, sex and vestibular function on it, was
examined in 39 24-to 83-mo.-old children with sensorineural hearing impairment. Repeated …

Branchiootorenal (BOR) syndrome is a variable, autosomal‐dominant disorder of the first
and second embryonic branchial arches, kidneys, and urinary tract. We describe the …

Objective To correlate clinical and audiometric findings with the radiologic appearance in
patients with enlarged vestibular aqueduct. Design A retrospective review of data from …

Objectives: Patients with large vestibular aqueduct syndrome (LVAS) often demonstrate an
air-bone gap at the low frequencies on audiometric testing. The mechanism causing such a …