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Trisomy 21 (Down Syndrome)
Caroline D. Robson, MBChB
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Pathology

          • Clinical Issues

            TERMINOLOGY

            • Synonyms

              • Trisomy 21 synonymous with Down syndrome
            • Definitions

              • Chromosomal aberration with triplicate (trisomy) chromosome 21 & distinctive phenotype

            IMAGING

            • General Features

              • CT Findings

                • MR Findings

                  • Imaging Recommendations

                    DIFFERENTIAL DIAGNOSIS

                      PATHOLOGY

                      • General Features

                        • Gross Pathologic & Surgical Features

                          CLINICAL ISSUES

                          • Presentation

                            • Demographics

                              • Natural History & Prognosis

                                • Treatment

                                  DIAGNOSTIC CHECKLIST

                                  • Image Interpretation Pearls

                                    Selected References

                                    1. Intrapiromkul J et al: Inner ear anomalies seen on CT images in people with Down syndrome. Pediatr Radiol. 42(12):1449-55, 2012
                                    2. Blaser S et al: Inner ear dysplasia is common in children with Down syndrome (trisomy 21). Laryngoscope. 116(12):2113-9, 2006
                                    3. Kanamori G et al: Otolaryngologic manifestations of Down syndrome. Otolaryngol Clin North Am. 33(6):1285-92, 2000
                                    4. Mazzoni DS et al: Abnormal pinna type and hearing loss correlations in Down's syndrome. J Intellect Disabil Res. 38 ( Pt 6):549-60, 1994
                                    5. Glass RB et al: Mastoid abnormalities in Down syndrome. Pediatr Radiol. 19(5):311-2, 1989
                                    6. Shibahara Y et al: Congenital anomalies of the eustachian tube in Down syndrome. Histopathologic case report. Ann Otol Rhinol Laryngol. 98(7 Pt 1):543-7, 1989
                                    7. Harada T et al: Temporal bone histopathologic findings in Down's syndrome. Arch Otolaryngol. 107(2):96-103, 1981
                                    8. Igarashi M et al: Inner ear morphology in Down's syndrome. Acta Otolaryngol. 83(1-2):175-81, 1977
                                    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

                                              • Synonyms

                                                • Trisomy 21 synonymous with Down syndrome
                                              • Definitions

                                                • Chromosomal aberration with triplicate (trisomy) chromosome 21 & distinctive phenotype

                                              IMAGING

                                              • General Features

                                                • CT Findings

                                                  • MR Findings

                                                    • Imaging Recommendations

                                                      DIFFERENTIAL DIAGNOSIS

                                                        PATHOLOGY

                                                        • General Features

                                                          • Gross Pathologic & Surgical Features

                                                            CLINICAL ISSUES

                                                            • Presentation

                                                              • Demographics

                                                                • Natural History & Prognosis

                                                                  • Treatment

                                                                    DIAGNOSTIC CHECKLIST

                                                                    • Image Interpretation Pearls

                                                                      Selected References

                                                                      1. Intrapiromkul J et al: Inner ear anomalies seen on CT images in people with Down syndrome. Pediatr Radiol. 42(12):1449-55, 2012
                                                                      2. Blaser S et al: Inner ear dysplasia is common in children with Down syndrome (trisomy 21). Laryngoscope. 116(12):2113-9, 2006
                                                                      3. Kanamori G et al: Otolaryngologic manifestations of Down syndrome. Otolaryngol Clin North Am. 33(6):1285-92, 2000
                                                                      4. Mazzoni DS et al: Abnormal pinna type and hearing loss correlations in Down's syndrome. J Intellect Disabil Res. 38 ( Pt 6):549-60, 1994
                                                                      5. Glass RB et al: Mastoid abnormalities in Down syndrome. Pediatr Radiol. 19(5):311-2, 1989
                                                                      6. Shibahara Y et al: Congenital anomalies of the eustachian tube in Down syndrome. Histopathologic case report. Ann Otol Rhinol Laryngol. 98(7 Pt 1):543-7, 1989
                                                                      7. Harada T et al: Temporal bone histopathologic findings in Down's syndrome. Arch Otolaryngol. 107(2):96-103, 1981
                                                                      8. Igarashi M et al: Inner ear morphology in Down's syndrome. Acta Otolaryngol. 83(1-2):175-81, 1977