Bor syndrome | definition of Bor syndrome by Medical dictionary
branchio-oto-renal syndrome (redirected from Bor syndrome)
an autosomal dominant disorder manifested by branchial cysts, preauricular skin tags or sinuses, ear anomalies, and kidney malformations; caused by mutation in the EYA1 gene on 8q.
branchio-oto-renal syndrome An AD condition characterized by mixed hearing loss accompanied by a Mondini-type cochlear malformation, bilateral renal dysplasia with abnormalities of collecting ducts, and bilateral branchial clefts and/or cysts; BORS may be linked to breakpoint mutations on chromosome 8q
References in periodicals archive
The BOR syndrome
can be distinguished from LADD syndrome by the presence of auricular pits and branchial fistulae and absence of dental and digital anomalies.
Congenital unilateral facial nerve palsy as an unusual presentation of BOR syndrome
. Eur J Pediatr 2013 Feb;172(2):273-275.