Key Points
• BOR syndrome is a rare hereditary disease characterized by several
congenital defects in multiple organs, including hearing impairment.
• Diagnostic criteria of BOR syndrome includes major and minor
phenotypic.
• Cochlear implantation (CI) can potentially benefit BOR syndrome
patients with profound hearing loss.
• The CI outcomes in BOR syndrome patients are influenced by dysplasia
of cochlear nerve.
• Oblique sagittal MRI of internal auditory canal is of prognostic value
in the management of BOR syndrome.
1 . INTRODUCTION
Branchio-oto-renal ( BOR, OMIM 113650 )syndrome is a rare autosomal
dominant condition, first reported in 1975. BOR is also referred to as
branchiootic syndrome(BO) when lacking renal malformation phenotype. It
accounts for 2% of childhood inner ear deafness, affecting one in
40,000. The clinical features of BOR are variable. Chang et al.
developed diagnostic criteria to including major and minor phenotypic
features(1). There still is inadequate literature regarding the surgical
indications and postoperative outcomes of cochlear implantation (CI) in
patients with BOR syndrome. Therefore, the aim of this study was to
investigate whether CI surgery improved the hearing and speech
performance of four children with BOR syndrome related severe hearing
loss.
2 . MATERIALS AND METHODS
Four children with BOR syndrome underwent CI were included in this
study. Clinical manifestations, genetic results, audiological features
and post-CI outcomes were ascertained and analyzed. Written informed
consents were obtained from all the subjects and/or their parents. This
study was approved by the research ethics committees of both the
hospital and was conducted in accordance with the guidelines of the
Declaration of Helsinki.
3. RESULTS