OBJECTIVES To identify mutations in the SLC26A4 gene in individuals with nonsyndromic hearing loss and enlarged vestibular aqueduct, to design a predicted model of the pendrin protein, and to characterize novel mutations by means of localization in mammalian cells and effect of the mutation on the predicted model. DESIGN Validation of the mutation by its exclusion in more than 300 individuals...

Sudden hearing loss in the only hearing ear cases are rarely published in the English literature; most of the cases are idiopathic. It is an otologic emergency needing urgent treatment. Delayed diagnosis can interfere with patient's social life with interrupting the verbal communication. In this case report we presented a 33-year-old female patient having sudden sensorineural hearing loss in th...

OBJECTIVES/HYPOTHESIS To establish the prevalence of abnormal vestibular test findings in children with enlarged vestibular aqueduct (EVA) and determine if these findings correlate with clinical symptoms, radiographic findings (EVA size and laterality), audiometric findings, and genetic testing in these patients. STUDY DESIGN Prospective cohort. METHODS Patients 3 to 12 years of age with he...

OBJECTIVES/HYPOTHESIS Patients with enlarged vestibular aqueduct (EVA) often demonstrate an air-bone gap (ABG) at low frequencies on audiometric testing. The mechanism for this has not been well elucidated. We investigated vestibular aqueduct (VA) size and ABG in patients with EVA, and assessed the relationship between VA diameter and ABG. STUDY DESIGN Retrospective review. METHODS We asses...

Objective: Incomplete partition type I is an uncommon congenital anomaly of the inner ear, characterized by typical cystic cochleovestibular appearance. was firstly defined as cochlea and vestibule without large vestibular aqueduct; however, aqueduct and/or enlarged endolymphatic duct could rarely be seen in incomplete anomaly. Correct diagnosis cochlear malformation differentiation necessary f...