Demographics:
36 years old, Male
Indication:
Congenital bilateral mixed hearing loss
Findings
- External ears:
- Tiny preauricular pits
- Soft tissue in the bony segment of the left external auditory canal
- The tympanic membranes are normal in appearance
- Middle ears/mastoids:
- Dysmorphic appearance of the bilateral malleus and incus with widening of the malleoincudal articulation laterally
- No normal stapes is visualized on either side with possible dysmorphic stapes elements adjacent to a stenotic-appearing oval window on the right
- The tympanic segment of the facial nerve is uncovered and partially overlies the oval window bilaterally
- The middle ear cavity is well-aerated and formed bilaterally
- Bilateral enlarged Eustachian tubes
- Inner ears:
- Unwound appearance of the cochlea with anteromedial displacement of the hypoplastic middle and apical turns
- The apical portion of the modiolus appears hypoplastic bilaterally
- Dysmorphic, incompletely formed, bulbous appearing bilateral posterior semicircular canals with possible dehiscence of the overlying jugular plate on the right
- Asymmetric narrowing of the right lateral semicircular canal
- Bony uncovering at the apex of the right superior semicircular canal
- Enlarged left vestibular aqueduct
Diagnosis
Branchio-oto-renal syndrome (BOR)
Key Imaging Features
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Differential Diagnosis
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Pearls
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Discussion
References