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.