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Branchio-oto-renal dysplasia

Dr Yuranga Weerakkody et al.

Branchio-oto-renal (BOR) dysplasia is a rare syndromic disorder characterised by

otic malformations
- can involve the outer, middle, and inner ear associated with conductive, sensorineural, or mixed hearing impairment
- preauricular pits
branchial fistulae and cysts - branchial cleft cysts
renal malformations : can range from mild renal hypoplasia to bilateral renal agenesis.

Pathology

Genetics

It carries an autosomal dominant inheritance. Most families with the BOR syndrome have mutations on the EYA-1 gene on chromosome 8q

Prognosis

Some individuals progress to end-stage renal disease (ESRD) later in life

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