X-linked deafness, also termed incomplete partition type III, is a rare genetic disorder associated with a mutation in the POU3F4 gene located on the X chromosome.
Male patients present with progressive mixed hearing loss. Female carriers have normal hearing or only mild hearing loss. Vestibular fuction is impaired in affected males, however normal in females.
X-linked deafness, also termed X-linked deformity, has typical imaging findings:
- bilateral and symmetrical widening of the fundus of the internal auditory canal;
- absence of the bony partition between the fundus and the basal turn of the cochleas.
- carrier females can have mild dilatation of internal auditory canal.
There may also be an abnormal bony modioli, vestibular aqueducts and facial nerve canals (labyrinthine and tympanic segments).
Because of the abnormal communication between the subarachnoid and perilymphatic spaces there is a high risk of gushing during stapes manipulation, and so recognition of the X-linked deformity is essential, precluding stapes surgery.
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