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X-Linked Stapes Gusher (DFNX2)
Caroline D. Robson, MBChB
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Pathology

          • Clinical Issues

            • Diagnostic Checklist

              TERMINOLOGY

              • Abbreviations

                • Deafness X-linked 2 (DFNX2)
                • X-linked mixed hearing loss (XLMHL)
              • Synonyms

                • Deafness 3, conductive, with stapes fixation (DFN3)
                • X-linked deafness with stapes gusher
                • Deafness, mixed, with perilymph gusher
                • Nance deafness
                • Cochlear incomplete partition type III (IP-III)
              • Definitions

                • Profound sensorineural hearing loss (SNHL) ± CHL + bilateral unique inner ear anomaly

              IMAGING

              • General Features

                • Imaging Recommendations

                  • CT Findings

                    • MR Findings

                      DIFFERENTIAL DIAGNOSIS

                        PATHOLOGY

                        • General Features

                          • Gross Pathologic & Surgical Features

                            CLINICAL ISSUES

                            • Presentation

                              • Demographics

                                • Treatment

                                  DIAGNOSTIC CHECKLIST

                                  • Image Interpretation Pearls

                                    Selected References

                                    1. Choi BY et al: Clinical observations and molecular variables of patients with hearing loss and incomplete partition type III. Laryngoscope. 126(3):E123-8, 2016
                                    2. Gong WX et al: HRCT and MRI findings in X-linked non-syndromic deafness patients with a POU3F4 mutation. Int J Pediatr Otorhinolaryngol. 78(10):1756-62, 2014
                                    3. Sennaroglu L: Cochlear implantation in inner ear malformations--a review article. Cochlear Implants Int. 11(1):4-41, 2010
                                    4. Lee HK et al: Clinical and molecular characterizations of novel POU3F4 mutations reveal that DFN3 is due to null function of POU3F4 protein. Physiol Genomics. 39(3):195-201, 2009
                                    5. Lee HK et al: Novel POU3F4 mutations and clinical features of DFN3 patients with cochlear implants. Clin Genet. 75(6):572-5, 2009
                                    6. Incesulu A et al: Cochlear implantation in cases with incomplete partition type III (X-linked anomaly). Eur Arch Otorhinolaryngol. 2008 Nov;265(11):1425-30. Epub 2008 Feb 28. Erratum in: Eur Arch Otorhinolaryngol. 265(11):1439, 2008
                                    7. Sennaroglu L et al: Surgical results of cochlear implantation in malformed cochlea. Otol Neurotol. 27(5):615-23, 2006
                                    8. Kumar G et al: X-linked stapes gusher: CT findings in one patient. AJNR Am J Neuroradiol. 24(6):1130-2, 2003
                                    9. Friedman RA et al: Molecular analysis of the POU3F4 gene in patients with clinical and radiographic evidence of X-linked mixed deafness with perilymphatic gusher. Ann Otol Rhinol Laryngol. 106(4):320-5, 1997
                                    10. de Kok YJ et al: Association between X-linked mixed deafness and mutations in the POU domain gene POU3F4. Science. 267(5198):685-8, 1995
                                    11. Phelps PD et al: X-linked deafness, stapes gushers and a distinctive defect of the inner ear. Neuroradiology. 33(4):326-30, 1991
                                    12. Nance WE et al: X-linked mixed deafness with congenital fixation of the stapedial footplate and perilymphatic gusher. Birth Defects Orig Artic Ser. 07(4):64-9, 1971
                                    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

                                              • Diagnostic Checklist

                                                TERMINOLOGY

                                                • Abbreviations

                                                  • Deafness X-linked 2 (DFNX2)
                                                  • X-linked mixed hearing loss (XLMHL)
                                                • Synonyms

                                                  • Deafness 3, conductive, with stapes fixation (DFN3)
                                                  • X-linked deafness with stapes gusher
                                                  • Deafness, mixed, with perilymph gusher
                                                  • Nance deafness
                                                  • Cochlear incomplete partition type III (IP-III)
                                                • Definitions

                                                  • Profound sensorineural hearing loss (SNHL) ± CHL + bilateral unique inner ear anomaly

                                                IMAGING

                                                • General Features

                                                  • Imaging Recommendations

                                                    • CT Findings

                                                      • MR Findings

                                                        DIFFERENTIAL DIAGNOSIS

                                                          PATHOLOGY

                                                          • General Features

                                                            • Gross Pathologic & Surgical Features

                                                              CLINICAL ISSUES

                                                              • Presentation

                                                                • Demographics

                                                                  • Treatment

                                                                    DIAGNOSTIC CHECKLIST

                                                                    • Image Interpretation Pearls

                                                                      Selected References

                                                                      1. Choi BY et al: Clinical observations and molecular variables of patients with hearing loss and incomplete partition type III. Laryngoscope. 126(3):E123-8, 2016
                                                                      2. Gong WX et al: HRCT and MRI findings in X-linked non-syndromic deafness patients with a POU3F4 mutation. Int J Pediatr Otorhinolaryngol. 78(10):1756-62, 2014
                                                                      3. Sennaroglu L: Cochlear implantation in inner ear malformations--a review article. Cochlear Implants Int. 11(1):4-41, 2010
                                                                      4. Lee HK et al: Clinical and molecular characterizations of novel POU3F4 mutations reveal that DFN3 is due to null function of POU3F4 protein. Physiol Genomics. 39(3):195-201, 2009
                                                                      5. Lee HK et al: Novel POU3F4 mutations and clinical features of DFN3 patients with cochlear implants. Clin Genet. 75(6):572-5, 2009
                                                                      6. Incesulu A et al: Cochlear implantation in cases with incomplete partition type III (X-linked anomaly). Eur Arch Otorhinolaryngol. 2008 Nov;265(11):1425-30. Epub 2008 Feb 28. Erratum in: Eur Arch Otorhinolaryngol. 265(11):1439, 2008
                                                                      7. Sennaroglu L et al: Surgical results of cochlear implantation in malformed cochlea. Otol Neurotol. 27(5):615-23, 2006
                                                                      8. Kumar G et al: X-linked stapes gusher: CT findings in one patient. AJNR Am J Neuroradiol. 24(6):1130-2, 2003
                                                                      9. Friedman RA et al: Molecular analysis of the POU3F4 gene in patients with clinical and radiographic evidence of X-linked mixed deafness with perilymphatic gusher. Ann Otol Rhinol Laryngol. 106(4):320-5, 1997
                                                                      10. de Kok YJ et al: Association between X-linked mixed deafness and mutations in the POU domain gene POU3F4. Science. 267(5198):685-8, 1995
                                                                      11. Phelps PD et al: X-linked deafness, stapes gushers and a distinctive defect of the inner ear. Neuroradiology. 33(4):326-30, 1991
                                                                      12. Nance WE et al: X-linked mixed deafness with congenital fixation of the stapedial footplate and perilymphatic gusher. Birth Defects Orig Artic Ser. 07(4):64-9, 1971