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Waardenburg Syndrome
Caroline D. Robson, MBChB
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Pathology

          • Clinical Issues

            TERMINOLOGY

            • Abbreviations

              • Waardenburg syndrome (WS)
            • Synonyms

              • WS4 = Waardenburg-Shah syndrome
              • WS3 = Klein-Waardenburg syndrome
            • Definitions

              • Auditory pigmentary dysmorphology syndrome

            IMAGING

            • General Features

              • CT Findings

                • MR Findings

                  • Imaging Recommendations

                    DIFFERENTIAL DIAGNOSIS

                      PATHOLOGY

                      • General Features

                        CLINICAL ISSUES

                        • Presentation

                          • Demographics

                            • Treatment

                              DIAGNOSTIC CHECKLIST

                              • Consider

                                Selected References

                                1. Pingault V et al: Review and update of mutations causing Waardenburg syndrome. Hum Mutat. 31(4):391-406, 2010
                                2. Madden C et al: Temporal bone abnormalities associated with hearing loss in Waardenburg syndrome. Laryngoscope. 113(11):2035-41, 2003
                                3. Oysu C et al: Temporal bone imaging findings in Waardenburg's syndrome. Int J Pediatr Otorhinolaryngol. 58(3):215-21, 2001
                                4. Beighton P et al: Hearing impairment and pigmentary disturbance. Ann N Y Acad Sci. 630:152-66, 1991
                                5. Waardenburg PJ: A new syndrome combining developmental anomalies of the eyelids, eyebrows and nose root with pigmentary defects of the iris and head hair and with congenital deafness. Am J Hum Genet. 3(3):195-253, 1951
                                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

                                            • Waardenburg syndrome (WS)
                                          • Synonyms

                                            • WS4 = Waardenburg-Shah syndrome
                                            • WS3 = Klein-Waardenburg syndrome
                                          • Definitions

                                            • Auditory pigmentary dysmorphology syndrome

                                          IMAGING

                                          • General Features

                                            • CT Findings

                                              • MR Findings

                                                • Imaging Recommendations

                                                  DIFFERENTIAL DIAGNOSIS

                                                    PATHOLOGY

                                                    • General Features

                                                      CLINICAL ISSUES

                                                      • Presentation

                                                        • Demographics

                                                          • Treatment

                                                            DIAGNOSTIC CHECKLIST

                                                            • Consider

                                                              Selected References

                                                              1. Pingault V et al: Review and update of mutations causing Waardenburg syndrome. Hum Mutat. 31(4):391-406, 2010
                                                              2. Madden C et al: Temporal bone abnormalities associated with hearing loss in Waardenburg syndrome. Laryngoscope. 113(11):2035-41, 2003
                                                              3. Oysu C et al: Temporal bone imaging findings in Waardenburg's syndrome. Int J Pediatr Otorhinolaryngol. 58(3):215-21, 2001
                                                              4. Beighton P et al: Hearing impairment and pigmentary disturbance. Ann N Y Acad Sci. 630:152-66, 1991
                                                              5. Waardenburg PJ: A new syndrome combining developmental anomalies of the eyelids, eyebrows and nose root with pigmentary defects of the iris and head hair and with congenital deafness. Am J Hum Genet. 3(3):195-253, 1951