Article
Middle and inner ear malformations in mutation-proven branchio-oculo-facial (BOF) syndrome: case series and review of the literature.
American journal of medical genetics. Part A - 1 Aug 2012
Carter Melissa T, Blaser Susan, Papsin Blake, Meschino Wendy, Reardon Willie, Klatt Regan, Babul-Hirji Riyana, Milunsky Jeff, Chitayat David
Abstract excerpt
Hearing impairment is common in individuals with branchio-oculo-facial (BOF) syndrome. The majority of described individuals have conductive hearing impairment due to malformed ossicles and/or external canal stenosis or atresia, although a sensorineural component to the hearing impairment in BOF syndrome is increasingly being reported. Sophisticated computed tomography (CT) of the temporal bone has revealed...
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