X-linked deafness

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. 

Clinical presentation

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.

Radiographic features

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.

Share article

Article Information

rID: 23401
System: Head & Neck
Section: Pathology
Synonyms or Alternate Spellings:
  • X-linked ear deformity
  • Incomplete partition type III

Support Radiopaedia and see fewer ads

Cases and Figures

  • Drag
    Case 1
    Drag here to reorder.
  • Updating… Please wait.
    Loadinganimation

    Alert accept

    Error Unable to process the form. Check for errors and try again.

    Alert accept Thank you for updating your details.