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Spine
Diagnosis
Congenital and Genetic Disorders
Congenital
Genetic Disorders
Connective Tissue Disorders
Connective Tissue Disorders
Kevin R. Moore, MD
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Pathology

          • Clinical Issues

            • Diagnostic Checklist

              TERMINOLOGY

              • Definitions

                • Group of congenital musculoskeletal disorders with similar imaging findings
                  • Most common types are Marfan, Ehlers-Danlos (EDS), Loeys-Dietz syndrome, Stickler syndrome
                  • EDS a.k.a. cutis hyperelastica

              IMAGING

              • General Features

                • Radiographic Findings

                  • CT Findings

                    • MR Findings

                      • Imaging Recommendations

                        DIFFERENTIAL DIAGNOSIS

                          PATHOLOGY

                          • General Features

                            • Staging, Grading, & Classification

                              CLINICAL ISSUES

                              • Presentation

                                • Demographics

                                  • Natural History & Prognosis

                                    • Treatment

                                      DIAGNOSTIC CHECKLIST

                                      • Consider

                                        Selected References

                                        1. Böker T et al: Dural ectasia in Marfan syndrome and other hereditary connective tissue disorders: a 10-year follow-up study. Spine J. 19(8):1412-21, 2019
                                        2. Kirby DJ et al: Spondylolisthesis is common, early, and severe in Loeys-Dietz syndrome. J Pediatr Orthop. 38(8):e455-61, 2018
                                        3. McArthur N et al: Stickler syndrome in children: a radiological review. Clin Radiol. 73(7):678.e13, 2018
                                        4. Meester JAN et al: Differences in manifestations of Marfan syndrome, Ehlers-Danlos syndrome, and Loeys-Dietz syndrome. Ann Cardiothorac Surg. 6(6):582-94, 2017
                                        5. Fuhrhop SK et al: High prevalence of cervical deformity and instability requires surveillance in Loeys-Dietz syndrome. J Bone Joint Surg Am. 97(5):411-9, 2015
                                        6. Wang B et al: Pelvic pain from a giant presacral Tarlov cyst successfully obliterated using aneurysm clips in a patient with Marfan syndrome. J Neurosurg Spine. 21(5):833-6, 2014
                                        7. Arnold PM et al: Marfan syndrome and symptomatic sacral cyst: report of two cases. J Spinal Cord Med. 36(5):499-503, 2013
                                        8. Sznajder M et al: Spinal imaging contributes to the diagnosis of Marfan syndrome. Joint Bone Spine. 77(5):445-50, 2010
                                        9. Campbell RM Jr: Spine deformities in rare congenital syndromes: clinical issues. Spine (Phila Pa 1976). 34(17):1815-27, 2009
                                        10. Glard Y et al: Scoliotic curve patterns in patients with Marfan syndrome. J Child Orthop. 2(3):211-6, 2008
                                        11. Loeys BL, Dietz HC. Loeys-Dietz syndrome. 1993-, 2008
                                        12. Demetracopoulos CA et al: Spinal deformities in Marfan syndrome. Orthop Clin North Am. 38(4):563-72, vii, 2007
                                        13. Giampietro PF et al: Marfan syndrome: orthopedic and genetic review. Curr Opin Pediatr. 14(1):35-41, 2002
                                        14. Jones KB et al: Leg-length discrepancy and scoliosis in Marfan syndrome. J Pediatr Orthop. 22(6):807-12, 2002
                                        15. Nallamshetty L et al: Plain radiography of the lumbosacral spine in Marfan syndrome. Spine J. 2(5):327-33, 2002
                                        16. Ahn NU et al: Dural ectasia and conventional radiography in the Marfan lumbosacral spine. Skeletal Radiol. 30(6):338-45, 2001
                                        17. Rose PS et al: Thoracolumbar spinal abnormalities in Stickler syndrome. Spine. 26(4):403-9, 2001
                                        18. Carter N et al: Bone mineral density in adults with Marfan syndrome. Rheumatology (Oxford). 39(3):307-9, 2000
                                        19. Herzka A et al: Atlantoaxial rotatory subluxation in patients with Marfan syndrome. A report of three cases. Spine. 25(4):524-6, 2000
                                        20. Letts M et al: The spinal manifestations of Stickler's syndrome. Spine. 24(12):1260-4, 1999
                                        21. Villeirs GM et al: Widening of the spinal canal and dural ectasia in Marfan's syndrome: assessment by CT. Neuroradiology. 41(11):850-4, 1999
                                        22. Hobbs WR et al: The cervical spine in Marfan syndrome. Spine. 22(9):983-9, 1997
                                        23. Raff ML et al: Joint hypermobility syndromes. Curr Opin Rheumatol. 8(5):459-66, 1996
                                        24. Raftopoulos C et al: Anterior sacral meningocele and Marfan syndrome: a review. Acta Chir Belg. 93(1):1-7, 1993
                                        25. Kozlowski K et al: Lumbar platyspondyly--characteristic sign of Ehlers-Danlos syndrome. Skeletal Radiol. 20(8):589-90, 1991
                                        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

                                                  • Diagnostic Checklist

                                                    TERMINOLOGY

                                                    • Definitions

                                                      • Group of congenital musculoskeletal disorders with similar imaging findings
                                                        • Most common types are Marfan, Ehlers-Danlos (EDS), Loeys-Dietz syndrome, Stickler syndrome
                                                        • EDS a.k.a. cutis hyperelastica

                                                    IMAGING

                                                    • General Features

                                                      • Radiographic Findings

                                                        • CT Findings

                                                          • MR Findings

                                                            • Imaging Recommendations

                                                              DIFFERENTIAL DIAGNOSIS

                                                                PATHOLOGY

                                                                • General Features

                                                                  • Staging, Grading, & Classification

                                                                    CLINICAL ISSUES

                                                                    • Presentation

                                                                      • Demographics

                                                                        • Natural History & Prognosis

                                                                          • Treatment

                                                                            DIAGNOSTIC CHECKLIST

                                                                            • Consider

                                                                              Selected References

                                                                              1. Böker T et al: Dural ectasia in Marfan syndrome and other hereditary connective tissue disorders: a 10-year follow-up study. Spine J. 19(8):1412-21, 2019
                                                                              2. Kirby DJ et al: Spondylolisthesis is common, early, and severe in Loeys-Dietz syndrome. J Pediatr Orthop. 38(8):e455-61, 2018
                                                                              3. McArthur N et al: Stickler syndrome in children: a radiological review. Clin Radiol. 73(7):678.e13, 2018
                                                                              4. Meester JAN et al: Differences in manifestations of Marfan syndrome, Ehlers-Danlos syndrome, and Loeys-Dietz syndrome. Ann Cardiothorac Surg. 6(6):582-94, 2017
                                                                              5. Fuhrhop SK et al: High prevalence of cervical deformity and instability requires surveillance in Loeys-Dietz syndrome. J Bone Joint Surg Am. 97(5):411-9, 2015
                                                                              6. Wang B et al: Pelvic pain from a giant presacral Tarlov cyst successfully obliterated using aneurysm clips in a patient with Marfan syndrome. J Neurosurg Spine. 21(5):833-6, 2014
                                                                              7. Arnold PM et al: Marfan syndrome and symptomatic sacral cyst: report of two cases. J Spinal Cord Med. 36(5):499-503, 2013
                                                                              8. Sznajder M et al: Spinal imaging contributes to the diagnosis of Marfan syndrome. Joint Bone Spine. 77(5):445-50, 2010
                                                                              9. Campbell RM Jr: Spine deformities in rare congenital syndromes: clinical issues. Spine (Phila Pa 1976). 34(17):1815-27, 2009
                                                                              10. Glard Y et al: Scoliotic curve patterns in patients with Marfan syndrome. J Child Orthop. 2(3):211-6, 2008
                                                                              11. Loeys BL, Dietz HC. Loeys-Dietz syndrome. 1993-, 2008
                                                                              12. Demetracopoulos CA et al: Spinal deformities in Marfan syndrome. Orthop Clin North Am. 38(4):563-72, vii, 2007
                                                                              13. Giampietro PF et al: Marfan syndrome: orthopedic and genetic review. Curr Opin Pediatr. 14(1):35-41, 2002
                                                                              14. Jones KB et al: Leg-length discrepancy and scoliosis in Marfan syndrome. J Pediatr Orthop. 22(6):807-12, 2002
                                                                              15. Nallamshetty L et al: Plain radiography of the lumbosacral spine in Marfan syndrome. Spine J. 2(5):327-33, 2002
                                                                              16. Ahn NU et al: Dural ectasia and conventional radiography in the Marfan lumbosacral spine. Skeletal Radiol. 30(6):338-45, 2001
                                                                              17. Rose PS et al: Thoracolumbar spinal abnormalities in Stickler syndrome. Spine. 26(4):403-9, 2001
                                                                              18. Carter N et al: Bone mineral density in adults with Marfan syndrome. Rheumatology (Oxford). 39(3):307-9, 2000
                                                                              19. Herzka A et al: Atlantoaxial rotatory subluxation in patients with Marfan syndrome. A report of three cases. Spine. 25(4):524-6, 2000
                                                                              20. Letts M et al: The spinal manifestations of Stickler's syndrome. Spine. 24(12):1260-4, 1999
                                                                              21. Villeirs GM et al: Widening of the spinal canal and dural ectasia in Marfan's syndrome: assessment by CT. Neuroradiology. 41(11):850-4, 1999
                                                                              22. Hobbs WR et al: The cervical spine in Marfan syndrome. Spine. 22(9):983-9, 1997
                                                                              23. Raff ML et al: Joint hypermobility syndromes. Curr Opin Rheumatol. 8(5):459-66, 1996
                                                                              24. Raftopoulos C et al: Anterior sacral meningocele and Marfan syndrome: a review. Acta Chir Belg. 93(1):1-7, 1993
                                                                              25. Kozlowski K et al: Lumbar platyspondyly--characteristic sign of Ehlers-Danlos syndrome. Skeletal Radiol. 20(8):589-90, 1991