Clinics in diagnostic imaging (111): X-linked congenital mixed deafness syndrome.
Two siblings, boys aged five and six years old, presented with mixed hearing loss. Computed tomography of the temporal bones showed bulbous dilatation of the internal auditory canals and incomplete separation with the basal turn of the cochlear, consistent with the diagnosis of X-linked congenital progressive mixed deafness syndrome. The diagnosis and management of this rare condition is discussed.
Chee
N W C
NW
Department of Otorhinolaryngology, Tan Tock Seng Hospital, 11 Jalan Tan Tock Seng, Singapore 308433. nelson_chee@yahoo.com
Suhailee
S
S
Goh
J
J
D002648:Child; D007758:Ear, Inner / Q000000981:diagnostic imaging*; D050172:Genes, X-Linked; D046089:Hearing Loss, Mixed Conductive-Sensorineural / Q000000981:diagnostic imaging / Q000235:genetics*; D006319:Hearing Loss, Sensorineural / Q000000981:diagnostic imaging / Q000235:genetics*; D006801:Humans; D008297:Male; D050809:POU Domain Factors / Q000235:genetics; D035781:Siblings; D013577:Syndrome; D013701:Temporal Bone / Q000000981:diagnostic imaging*; D014057:Tomography, X-Ray Computed
D050809:POU Domain Factors; C091774:POU3F4 protein, human