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Middle and inner ear malformations in mutation‐proven branchio‐oculo‐facial (BOF) syndrome: Case series and review of the literature
Author(s) -
Carter Melissa T.,
Blaser Susan,
Papsin Blake,
Meschino Wendy,
Reardon Willie,
Klatt Regan,
BabulHirji Riyana,
Milunsky Jeff,
Chitayat David
Publication year - 2012
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.35436
Subject(s) - inner ear , middle ear , medicine , temporal bone , sensorineural hearing loss , ear canal , outer ear , ossicles , stenosis , audiology , hearing loss , anatomy , dentistry , radiology
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 middle and inner ear malformations in three previous reports. We present middle and inner ear abnormalities in three additional individuals with mutation‐proven BOF syndrome. We suggest that temporal bone CT imaging be included in the medical workup of a child with BOF syndrome, in order to guide management. © 2012 Wiley Periodicals, Inc.