Middle and inner ear malformations in mutation-proven branchio-oculo-facial (BOF) syndrome: case series and review of the literature.
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.
Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.
Melissa T
MT
Carter
Susan
S
Blaser
Blake
B
Papsin
Wendy
W
Meschino
Willie
W
Reardon
Regan
R
Klatt
Riyana
R
Babul-Hirji
Jeff
J
Milunsky
David
D
Chitayat
D019280:Branchio-Oto-Renal Syndrome / Q000235:genetics / Q000473:pathology*; D002648:Child; D007758:Ear, Inner / Q000473:pathology*; D004432:Ear, Middle / Q000473:pathology*; D005260:Female; D006801:Humans; D008297:Male; D009154:Mutation; D013577:Syndrome; D014057:Tomography, X-Ray Computed