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