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Marfan and Ehlers-Danlos Syndrome
B.J. Manaster, MD, PhD, FACR
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KEY FACTS

  • Terminology

    • Imaging

      • Clinical Issues

        TERMINOLOGY

        • Definitions

          • Marfan syndrome (MF): Familial disorder of connective tissue with MSK, ocular, and vascular manifestations but variable phenotypic expression
          • Ehlers-Danlos syndrome (ED): Hereditary disorder of connective tissue with various phenotypes (multiple syndromes)

        IMAGING

        • Disproportionate Limb Lengthening (MF, ED)

          • Ligamentous Laxity (MF, ED)

            • Soft Tissues: Different Manifestation in MF, ED

              • Spine (MF, ED)

                • Chest (MF, ED)

                  • Skull

                    • Other Findings

                      DIFFERENTIAL DIAGNOSIS

                        PATHOLOGY

                        • General Features

                          • Staging, Grading, & Classification

                            • Microscopic Features

                              CLINICAL ISSUES

                              • Presentation

                                • Demographics

                                  • Natural History & Prognosis

                                    • Treatment

                                      Selected References

                                      1. Hammarstedt JE et al: Arthroscopic ligamentum teres reconstruction of the hip in Ehlers-Danlos syndrome: a case study. Hip Int. 0, 2015
                                      2. Cook JR et al: Clinical, diagnostic, and therapeutic aspects of the Marfan syndrome. Adv Exp Med Biol. 802:77-94, 2014
                                      3. Radke RM et al: Diagnosis and treatment of Marfan syndrome: an update. Heart. 100(17):1382-91, 2014
                                      4. Castori M et al: Natural history and manifestations of the hypermobility type Ehlers-Danlos syndrome: a pilot study on 21 patients. Am J Med Genet A. 152A(3):556-64, 2010
                                      5. Iacono V et al: Reconstruction of chronic patellar tendon tear with allograft in a patient with Ehlers-Danlos syndrome. Knee Surg Sports Traumatol Arthrosc. 18(8):1116-8, 2010
                                      6. Kimura-Hayama ET et al: Uncommon congenital and acquired aortic diseases: role of multidetector CT angiography. Radiographics. 30(1):79-98, 2010
                                      7. Lindeman JH et al: Distinct defects in collagen microarchitecture underlie vessel-wall failure in advanced abdominal aneurysms and aneurysms in Marfan syndrome. Proc Natl Acad Sci U S A. 107(2):862-5, 2010
                                      8. Rombaut L et al: Joint position sense and vibratory perception sense in patients with Ehlers-Danlos syndrome type III (hypermobility type). Clin Rheumatol. 29(3):289-95, 2010
                                      9. Voermans NC et al: Fatigue is a frequent and clinically relevant problem in Ehlers-Danlos Syndrome. Semin Arthritis Rheum. 40(3):267-74, 2010
                                      10. Barboi A et al: Neuromuscular manifestations in a patient with ehlers-danlos syndrome type IV. J Clin Neuromuscul Dis. 11(2):81-7, 2009
                                      11. Resnick D: Diagnosis of Bone and Joint Disorders. 4th ed. Saunders: Philadelphia. 4382-98, 2002
                                      Related Anatomy
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                                      Related Differential Diagnoses
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                                      References
                                      Tables

                                      Tables

                                      KEY FACTS

                                      • Terminology

                                        • Imaging

                                          • Clinical Issues

                                            TERMINOLOGY

                                            • Definitions

                                              • Marfan syndrome (MF): Familial disorder of connective tissue with MSK, ocular, and vascular manifestations but variable phenotypic expression
                                              • Ehlers-Danlos syndrome (ED): Hereditary disorder of connective tissue with various phenotypes (multiple syndromes)

                                            IMAGING

                                            • Disproportionate Limb Lengthening (MF, ED)

                                              • Ligamentous Laxity (MF, ED)

                                                • Soft Tissues: Different Manifestation in MF, ED

                                                  • Spine (MF, ED)

                                                    • Chest (MF, ED)

                                                      • Skull

                                                        • Other Findings

                                                          DIFFERENTIAL DIAGNOSIS

                                                            PATHOLOGY

                                                            • General Features

                                                              • Staging, Grading, & Classification

                                                                • Microscopic Features

                                                                  CLINICAL ISSUES

                                                                  • Presentation

                                                                    • Demographics

                                                                      • Natural History & Prognosis

                                                                        • Treatment

                                                                          Selected References

                                                                          1. Hammarstedt JE et al: Arthroscopic ligamentum teres reconstruction of the hip in Ehlers-Danlos syndrome: a case study. Hip Int. 0, 2015
                                                                          2. Cook JR et al: Clinical, diagnostic, and therapeutic aspects of the Marfan syndrome. Adv Exp Med Biol. 802:77-94, 2014
                                                                          3. Radke RM et al: Diagnosis and treatment of Marfan syndrome: an update. Heart. 100(17):1382-91, 2014
                                                                          4. Castori M et al: Natural history and manifestations of the hypermobility type Ehlers-Danlos syndrome: a pilot study on 21 patients. Am J Med Genet A. 152A(3):556-64, 2010
                                                                          5. Iacono V et al: Reconstruction of chronic patellar tendon tear with allograft in a patient with Ehlers-Danlos syndrome. Knee Surg Sports Traumatol Arthrosc. 18(8):1116-8, 2010
                                                                          6. Kimura-Hayama ET et al: Uncommon congenital and acquired aortic diseases: role of multidetector CT angiography. Radiographics. 30(1):79-98, 2010
                                                                          7. Lindeman JH et al: Distinct defects in collagen microarchitecture underlie vessel-wall failure in advanced abdominal aneurysms and aneurysms in Marfan syndrome. Proc Natl Acad Sci U S A. 107(2):862-5, 2010
                                                                          8. Rombaut L et al: Joint position sense and vibratory perception sense in patients with Ehlers-Danlos syndrome type III (hypermobility type). Clin Rheumatol. 29(3):289-95, 2010
                                                                          9. Voermans NC et al: Fatigue is a frequent and clinically relevant problem in Ehlers-Danlos Syndrome. Semin Arthritis Rheum. 40(3):267-74, 2010
                                                                          10. Barboi A et al: Neuromuscular manifestations in a patient with ehlers-danlos syndrome type IV. J Clin Neuromuscul Dis. 11(2):81-7, 2009
                                                                          11. Resnick D: Diagnosis of Bone and Joint Disorders. 4th ed. Saunders: Philadelphia. 4382-98, 2002