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Branchiootorenal Syndrome
William T. O'Brien, Sr., DO, FAOCR; Caroline D. Robson, MBChB
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Pathology

          • Clinical Issues

            TERMINOLOGY

            • Abbreviations

              • Branchiootorenal (BOR) syndrome
            • Synonyms

              • Melnick-Fraser syndrome
            • Definitions

              • Autosomal dominant syndrome
                • Deafness
                • Branchial anomalies/preauricular pits
                • Ear anomalies
                • Renal abnormalities

            IMAGING

            • General Features

              • CT Findings

                • Ultrasonographic Findings

                  • Imaging Recommendations

                    DIFFERENTIAL DIAGNOSIS

                      PATHOLOGY

                      • General Features

                        CLINICAL ISSUES

                        • Presentation

                          • Demographics

                            • Natural History & Prognosis

                              • Treatment

                                DIAGNOSTIC CHECKLIST

                                • Consider

                                  • Image Interpretation Pearls

                                    • Reporting Tips

                                      Selected References

                                      1. Chen A et al: Otological manifestations in branchiootorenal spectrum disorder: a systematic review and meta-analysis. Clin Genet. 100(1):3-13, 2021
                                      2. Ginat DT: Imaging findings in syndromes with temporal bone abnormalities. Neuroimaging Clin N Am. 29(1):117-28, 2019
                                      3. Traylor KS et al: Inner ear anomalies in congenital hearing loss: imaging, genetics, and associated syndromes. Neurographics. 9(6):358-72, 2019
                                      4. Williams LE et al: Multimodality depiction of findings in branchio-oto-renal syndrome: two case reports. Acta Radiol Open. 8(7):2058460119861606, 2019
                                      5. Gettelfinger JD et al: Syndromic hearing loss: a brief review of common presentations and genetics. J Pediatr Genet. 7(1):1-8, 2018
                                      6. Hsu A et al: The unwound cochlea: a specific imaging marker of branchio-oto-renal syndrome. AJNR Am J Neuroradiol. 39(12):2345-9, 2018
                                      7. Song MH et al: Mutational analysis of EYA1, SIX1 and SIX5 genes and strategies for management of hearing loss in patients with BOR/BO syndrome. PLoS One. 8(6):e67236, 2013
                                      8. Johnston DR et al: Diagnostic and surgical challenge: middle ear dermoid cyst in 12 month old with branchio-oto-renal syndrome and multiple middle-ear congenital anomalies. Int J Pediatr Otorhinolaryngol. 75(10):1341-5, 2011
                                      9. Krug P et al: Mutation screening of the EYA1, SIX1, and SIX5 genes in a large cohort of patients harboring branchio-oto-renal syndrome calls into question the pathogenic role of SIX5 mutations. Hum Mutat. 32(2):183-90, 2011
                                      10. Orten DJ et al: Branchio-oto-renal syndrome (BOR): novel mutations in the EYA1 gene, and a review of the mutational genetics of BOR. Hum Mutat. 29(4):537-44, 2008
                                      11. Amin S et al: Incudomalleal joint formation: the roles of apoptosis, migration and downregulation. BMC Dev Biol. 7:134, 2007
                                      12. Kochhar A et al: Branchio-oto-renal syndrome. Am J Med Genet A. 143A(14):1671-8, 2007
                                      13. Propst EJ et al: Temporal bone findings on computed tomography imaging in branchio-oto-renal syndrome. Laryngoscope. 115(10):1855-62, 2005
                                      14. Chang EH et al: Branchio-oto-renal syndrome: the mutation spectrum in EYA1 and its phenotypic consequences. Hum Mutat. 23(6):582-9, 2004
                                      Related Anatomy
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                                      Related Differential Diagnoses
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                                      References
                                      Tables

                                      Tables

                                      KEY FACTS

                                      • Terminology

                                        • Imaging

                                          • Top Differential Diagnoses

                                            • Pathology

                                              • Clinical Issues

                                                TERMINOLOGY

                                                • Abbreviations

                                                  • Branchiootorenal (BOR) syndrome
                                                • Synonyms

                                                  • Melnick-Fraser syndrome
                                                • Definitions

                                                  • Autosomal dominant syndrome
                                                    • Deafness
                                                    • Branchial anomalies/preauricular pits
                                                    • Ear anomalies
                                                    • Renal abnormalities

                                                IMAGING

                                                • General Features

                                                  • CT Findings

                                                    • Ultrasonographic Findings

                                                      • Imaging Recommendations

                                                        DIFFERENTIAL DIAGNOSIS

                                                          PATHOLOGY

                                                          • General Features

                                                            CLINICAL ISSUES

                                                            • Presentation

                                                              • Demographics

                                                                • Natural History & Prognosis

                                                                  • Treatment

                                                                    DIAGNOSTIC CHECKLIST

                                                                    • Consider

                                                                      • Image Interpretation Pearls

                                                                        • Reporting Tips

                                                                          Selected References

                                                                          1. Chen A et al: Otological manifestations in branchiootorenal spectrum disorder: a systematic review and meta-analysis. Clin Genet. 100(1):3-13, 2021
                                                                          2. Ginat DT: Imaging findings in syndromes with temporal bone abnormalities. Neuroimaging Clin N Am. 29(1):117-28, 2019
                                                                          3. Traylor KS et al: Inner ear anomalies in congenital hearing loss: imaging, genetics, and associated syndromes. Neurographics. 9(6):358-72, 2019
                                                                          4. Williams LE et al: Multimodality depiction of findings in branchio-oto-renal syndrome: two case reports. Acta Radiol Open. 8(7):2058460119861606, 2019
                                                                          5. Gettelfinger JD et al: Syndromic hearing loss: a brief review of common presentations and genetics. J Pediatr Genet. 7(1):1-8, 2018
                                                                          6. Hsu A et al: The unwound cochlea: a specific imaging marker of branchio-oto-renal syndrome. AJNR Am J Neuroradiol. 39(12):2345-9, 2018
                                                                          7. Song MH et al: Mutational analysis of EYA1, SIX1 and SIX5 genes and strategies for management of hearing loss in patients with BOR/BO syndrome. PLoS One. 8(6):e67236, 2013
                                                                          8. Johnston DR et al: Diagnostic and surgical challenge: middle ear dermoid cyst in 12 month old with branchio-oto-renal syndrome and multiple middle-ear congenital anomalies. Int J Pediatr Otorhinolaryngol. 75(10):1341-5, 2011
                                                                          9. Krug P et al: Mutation screening of the EYA1, SIX1, and SIX5 genes in a large cohort of patients harboring branchio-oto-renal syndrome calls into question the pathogenic role of SIX5 mutations. Hum Mutat. 32(2):183-90, 2011
                                                                          10. Orten DJ et al: Branchio-oto-renal syndrome (BOR): novel mutations in the EYA1 gene, and a review of the mutational genetics of BOR. Hum Mutat. 29(4):537-44, 2008
                                                                          11. Amin S et al: Incudomalleal joint formation: the roles of apoptosis, migration and downregulation. BMC Dev Biol. 7:134, 2007
                                                                          12. Kochhar A et al: Branchio-oto-renal syndrome. Am J Med Genet A. 143A(14):1671-8, 2007
                                                                          13. Propst EJ et al: Temporal bone findings on computed tomography imaging in branchio-oto-renal syndrome. Laryngoscope. 115(10):1855-62, 2005
                                                                          14. Chang EH et al: Branchio-oto-renal syndrome: the mutation spectrum in EYA1 and its phenotypic consequences. Hum Mutat. 23(6):582-9, 2004