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bronchio-oto-renal syndrome
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
a) preauricular pits
b) branchial fistulae or cysts
c) lacrimal duct stenosis
d) hearing loss
e) structural defects of the outer, middle, or inner ear
f) renal dysplasia
- associated defects include
a) asthenic habitus
b) long narrow facies
c) constricted palate
d) deep overbite
e) myopia
General
genetic syndrome (multisystem disorder)
Database Correlations
OMIM 113650
References
OMIM :accession 113650