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Down Syndrome (Trisomy 21)
Kara G. Gill, MD; B. J. Manaster, MD, PhD, FACR
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KEY FACTS

  • Imaging

    • Pathology

      • Clinical Issues

        IMAGING

        • Radiographic Findings

          • CT Findings

            • Ultrasonographic Findings

              DIFFERENTIAL DIAGNOSIS

                PATHOLOGY

                • General Features

                  CLINICAL ISSUES

                  • Presentation

                    • Demographics

                      Selected References

                      1. Tu A et al: Dynamic MRI in the evaluation of atlantoaxial stability in pediatric down syndrome patients. Pediatr Neurosurg. 54(1):12-20, 2019
                      2. Liu Y et al: Diagnostic value of ultrasonographic combining biochemical markers for Down syndrome screening in first trimester: a meta-analysis. Prenat Diagn. 35(9):879-87, 2015
                      3. Onyeacholem I et al: Setting up a nuchal translucency clinic: what radiologists need to know. Ultrasound Q. 32(1):3-14, 2015
                      4. Maymon R et al: All five digits of the hands of fetuses with Down syndrome are short. Ultrasound Obstet Gynecol. 23(6):557-60, 2004
                      5. Massez A et al: The iliac angle: a sonographic marker of trisomy 21 during the midtrimester: dependency of fetal lying? Eur Radiol. 13(9):2075-81, 2003
                      6. Kliewer MA et al: The anterior iliac separation: alternative index for pelvic morphometry in fetuses with Down syndrome. AJR Am J Roentgenol. 176(4):1003-7, 2001
                      7. Lee W et al: Fetal iliac angle measurements by three-dimensional sonography. Ultrasound Obstet Gynecol. 18(2):150-4, 2001
                      8. Karol LA et al: Reproducibility in the measurement of atlanto-occipital instability in children with Down syndrome. Spine (Phila Pa 1976). 21(21):2463-7; discussion 2468, 1996
                      9. Palomaki GE: Down's syndrome epidemiology and risk estimation. Early Hum Dev. 47 Suppl:S19-26, 1996
                      10. Matsuda Y et al: Atlanto-occipital hypermobility in subjects with Down's syndrome. Spine (Phila Pa 1976). 20(21):2283-6, 1995
                      Related Anatomy
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                      Related Differential Diagnoses
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                      References
                      Tables

                      Tables

                      KEY FACTS

                      • Imaging

                        • Pathology

                          • Clinical Issues

                            IMAGING

                            • Radiographic Findings

                              • CT Findings

                                • Ultrasonographic Findings

                                  DIFFERENTIAL DIAGNOSIS

                                    PATHOLOGY

                                    • General Features

                                      CLINICAL ISSUES

                                      • Presentation

                                        • Demographics

                                          Selected References

                                          1. Tu A et al: Dynamic MRI in the evaluation of atlantoaxial stability in pediatric down syndrome patients. Pediatr Neurosurg. 54(1):12-20, 2019
                                          2. Liu Y et al: Diagnostic value of ultrasonographic combining biochemical markers for Down syndrome screening in first trimester: a meta-analysis. Prenat Diagn. 35(9):879-87, 2015
                                          3. Onyeacholem I et al: Setting up a nuchal translucency clinic: what radiologists need to know. Ultrasound Q. 32(1):3-14, 2015
                                          4. Maymon R et al: All five digits of the hands of fetuses with Down syndrome are short. Ultrasound Obstet Gynecol. 23(6):557-60, 2004
                                          5. Massez A et al: The iliac angle: a sonographic marker of trisomy 21 during the midtrimester: dependency of fetal lying? Eur Radiol. 13(9):2075-81, 2003
                                          6. Kliewer MA et al: The anterior iliac separation: alternative index for pelvic morphometry in fetuses with Down syndrome. AJR Am J Roentgenol. 176(4):1003-7, 2001
                                          7. Lee W et al: Fetal iliac angle measurements by three-dimensional sonography. Ultrasound Obstet Gynecol. 18(2):150-4, 2001
                                          8. Karol LA et al: Reproducibility in the measurement of atlanto-occipital instability in children with Down syndrome. Spine (Phila Pa 1976). 21(21):2463-7; discussion 2468, 1996
                                          9. Palomaki GE: Down's syndrome epidemiology and risk estimation. Early Hum Dev. 47 Suppl:S19-26, 1996
                                          10. Matsuda Y et al: Atlanto-occipital hypermobility in subjects with Down's syndrome. Spine (Phila Pa 1976). 20(21):2283-6, 1995