bronchio-oto-renal syndrome
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Pathology
- hearing loss may be due to Mondini type cochlear defect & stapes fixation
Genetics
- autosomal dominant
- associated with defects in SALL1 Clinical manifstations:
- phenotype may overlap with Townes-Brocks syndrome
- various combinations of
- preauricular pits
- branchial fistulae or cysts
- lacrimal duct stenosis
- hearing loss
- structural defects of the outer, middle, or inner ear
- renal dysplasia
- associated defects include