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Pendred Syndrome and DFNB4 With Enlarged Vestibular Aqueduct
Caroline D. Robson, MBChB
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Pathology

          • Clinical Issues

            TERMINOLOGY

            • Abbreviations

              • Pendred syndrome (PS)
              • Deafness, autosomal recessive 4 (DFNB4)
            • Synonyms

              • DFNB4 with enlarged vestibular aqueduct: Nonsyndromic enlarged vestibular aqueduct
              • Enlarged vestibular aqueduct syndrome
              • Mondini anomaly (historic term): Cochlear incomplete partition type II (IP-II) + large vestibular aqueduct (LVA)
            • Definitions

              • PS: Autosomal recessive (AR) disorder associated with LVA ± cochlear anomaly (IP-II) & thyroid organification defect
              • DFNB4: AR disorder associated with LVA ± cochlear anomaly

            IMAGING

            • General Features

              • CT Findings

                • MR Findings

                  • Imaging Recommendations

                    DIFFERENTIAL DIAGNOSIS

                      PATHOLOGY

                      • General Features

                        CLINICAL ISSUES

                        • Presentation

                          • Demographics

                            • Natural History & Prognosis

                              • Treatment

                                Selected References

                                1. Yang T et al: Mutations of KCNJ10 together with mutations of SLC26A4 cause digenic nonsyndromic hearing loss associated with enlarged vestibular aqueduct syndrome. Am J Hum Genet. 84(5):651-7, 2009
                                2. Yang T et al: Transcriptional control of SLC26A4 is involved in Pendred syndrome and nonsyndromic enlargement of vestibular aqueduct (DFNB4). Am J Hum Genet. 80(6):1055-63, 2007
                                3. Albert S et al: SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populations. Eur J Hum Genet. 14(6):773-9, 2006
                                4. Pryor SP et al: SLC26A4/PDS genotype-phenotype correlation in hearing loss with enlargement of the vestibular aqueduct (EVA): evidence that Pendred syndrome and non-syndromic EVA are distinct clinical and genetic entities. J Med Genet. 42(2):159-65, 2005
                                5. Wangemann P et al: Loss of KCNJ10 protein expression abolishes endocochlear potential and causes deafness in Pendred syndrome mouse model. BMC Med. 2:30, 2004
                                6. Scott DA et al: Functional differences of the PDS gene product are associated with phenotypic variation in patients with Pendred syndrome and non-syndromic hearing loss (DFNB4). Hum Mol Genet. 9(11):1709-15, 2000
                                7. Everett LA et al: Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS). Nat Genet. 17(4):411-22, 1997
                                8. Valvassori GE et al: The large vestibular aqueduct syndrome. Laryngoscope. 88(5):723-8, 1978
                                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

                                            • Pendred syndrome (PS)
                                            • Deafness, autosomal recessive 4 (DFNB4)
                                          • Synonyms

                                            • DFNB4 with enlarged vestibular aqueduct: Nonsyndromic enlarged vestibular aqueduct
                                            • Enlarged vestibular aqueduct syndrome
                                            • Mondini anomaly (historic term): Cochlear incomplete partition type II (IP-II) + large vestibular aqueduct (LVA)
                                          • Definitions

                                            • PS: Autosomal recessive (AR) disorder associated with LVA ± cochlear anomaly (IP-II) & thyroid organification defect
                                            • DFNB4: AR disorder associated with LVA ± cochlear anomaly

                                          IMAGING

                                          • General Features

                                            • CT Findings

                                              • MR Findings

                                                • Imaging Recommendations

                                                  DIFFERENTIAL DIAGNOSIS

                                                    PATHOLOGY

                                                    • General Features

                                                      CLINICAL ISSUES

                                                      • Presentation

                                                        • Demographics

                                                          • Natural History & Prognosis

                                                            • Treatment

                                                              Selected References

                                                              1. Yang T et al: Mutations of KCNJ10 together with mutations of SLC26A4 cause digenic nonsyndromic hearing loss associated with enlarged vestibular aqueduct syndrome. Am J Hum Genet. 84(5):651-7, 2009
                                                              2. Yang T et al: Transcriptional control of SLC26A4 is involved in Pendred syndrome and nonsyndromic enlargement of vestibular aqueduct (DFNB4). Am J Hum Genet. 80(6):1055-63, 2007
                                                              3. Albert S et al: SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populations. Eur J Hum Genet. 14(6):773-9, 2006
                                                              4. Pryor SP et al: SLC26A4/PDS genotype-phenotype correlation in hearing loss with enlargement of the vestibular aqueduct (EVA): evidence that Pendred syndrome and non-syndromic EVA are distinct clinical and genetic entities. J Med Genet. 42(2):159-65, 2005
                                                              5. Wangemann P et al: Loss of KCNJ10 protein expression abolishes endocochlear potential and causes deafness in Pendred syndrome mouse model. BMC Med. 2:30, 2004
                                                              6. Scott DA et al: Functional differences of the PDS gene product are associated with phenotypic variation in patients with Pendred syndrome and non-syndromic hearing loss (DFNB4). Hum Mol Genet. 9(11):1709-15, 2000
                                                              7. Everett LA et al: Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS). Nat Genet. 17(4):411-22, 1997
                                                              8. Valvassori GE et al: The large vestibular aqueduct syndrome. Laryngoscope. 88(5):723-8, 1978