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Segmental Spinal Dysgenesis
Kevin R. Moore, MD; Jeffrey S. Ross, MD
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Pathology

          • Clinical Issues

            • Diagnostic Checklist

              TERMINOLOGY

              • Abbreviations

                • Segmental spinal dysgenesis (SSD)
              • Definitions

                • Complex congenital spinal malformation
                  • Localized segmental agenesis or dysgenesis of lumbar or thoracolumbar spine, spinal cord
                  • Distal spinal osseous architecture usually normal [unless concurrent caudal regression syndrome (CRS)]

              IMAGING

              • General Features

                • Imaging Recommendations

                  • Radiographic Findings

                    • CT Findings

                      • MR Findings

                        • Ultrasonographic Findings

                          DIFFERENTIAL DIAGNOSIS

                            PATHOLOGY

                            • General Features

                              • Staging, Grading, & Classification

                                • Gross Pathologic & Surgical Features

                                  CLINICAL ISSUES

                                  • Presentation

                                    • Demographics

                                      • Natural History & Prognosis

                                        • Treatment

                                          DIAGNOSTIC CHECKLIST

                                          • Consider

                                            Selected References

                                            1. Cacciola F et al: Segmental spinal dysgenesis associated with occult dysraphism: Considerations on management strategies. J Craniovertebr Junction Spine. 8(2):144-8, 2017
                                            2. Eibach S et al: Unjoined primary and secondary neural tubes: junctional neural tube defect, a new form of spinal dysraphism caused by disturbance of junctional neurulation. Childs Nerv Syst. 33(10):1633-47, 2017
                                            3. Morell SM et al: Segmental spinal dysgenesis: a report of early surgical intervention and outcome in a 14-month-old child. Childs Nerv Syst. 33(2):381-4, 2017
                                            4. Pavlova OM et al: Surgical treatment of thoracolumbar segmental spinal dysgenesis: Optimal type of fusion. World Neurosurg. 106:551-6, 2017
                                            5. Lenke LG et al: Complications after 147 consecutive vertebral column resections for severe pediatric spinal deformity: a multicenter analysis. Spine (Phila Pa 1976). 38(2):119-32, 2013
                                            6. Pahwa S et al: Segmental spinal dysgenesis: a rare malformation of the spinal cord. Neurol India. 58(2):334-5, 2010
                                            7. Emmanouilidou M et al: Spinal segmental dysgenesis: presentation of a rare spinal congenital abnormality. Neuroradiol J. 21(3):388-92, 2008
                                            8. Bristol RE et al: Segmental spinal dysgenesis: report of four cases and proposed management strategy. Childs Nerv Syst. 23(3):359-64, 2007
                                            9. Fratelli N et al: Prenatal diagnosis of segmental spinal dysgenesis. Prenat Diagn. 27(10):979-81, 2007
                                            10. Ofiram E et al: Segmental spinal dysgenesis: case report of a 50-year follow-up after surgery at age 3 years: case report. Spine (Phila Pa 1976). 31(2):E59-61, 2006
                                            11. Zana E et al: An atypical case of segmental spinal dysgenesis. Pediatr Radiol. 35(9):914-7, 2005
                                            12. Erol B et al: Congenital scoliosis and vertebral malformations: characterization of segmental defects for genetic analysis. J Pediatr Orthop. 24(6):674-82, 2004
                                            13. Rossi A et al: Imaging in spine and spinal cord malformations. Eur J Radiol. 50(2):177-200, 2004
                                            14. Buyse G et al: Segmental spinal cord hypoplasia and meningocele with preservation of medullary function: case report. Surg Neurol. 59(6):505-7; discussion 508, 2003
                                            15. Desai K et al: Congenital thoracic cord segmental amyelia: a rare manifestation of segmental spinal dysgenesis. Pediatr Neurosurg. 38(2):102-6, 2003
                                            16. Tortori-Donati P et al: Segmental spinal dysgenesis: neuroradiologic findings with clinical and embryologic correlation. AJNR Am J Neuroradiol. 20(3):445-56, 1999
                                            17. Dias MS et al: The embryogenesis of congenital vertebral dislocation: early embryonic buckling? Pediatr Neurosurg. 29(6):281-9, 1998
                                            18. Hughes LO et al: Segmental spinal dysgenesis: a report of three cases. J Pediatr Orthop. 18(2):227-32, 1998
                                            19. Achiron R et al: Second-trimester ultrasonographic diagnosis of segmental vertebral abnormalities associated with neurological deficit: a possible new variant of occult spinal dysraphism. Prenat Diagn. 16(8):760-3, 1996
                                            20. Faciszewski T et al: Segmental spinal dysgenesis. A disorder different from spinal agenesis. J Bone Joint Surg Am. 77(4):530-7, 1995
                                            21. Scott RM et al: Segmental spinal dysgenesis. Neurosurgery. 22(4):739-44, 1988
                                            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

                                                        • Abbreviations

                                                          • Segmental spinal dysgenesis (SSD)
                                                        • Definitions

                                                          • Complex congenital spinal malformation
                                                            • Localized segmental agenesis or dysgenesis of lumbar or thoracolumbar spine, spinal cord
                                                            • Distal spinal osseous architecture usually normal [unless concurrent caudal regression syndrome (CRS)]

                                                        IMAGING

                                                        • General Features

                                                          • Imaging Recommendations

                                                            • Radiographic Findings

                                                              • CT Findings

                                                                • MR Findings

                                                                  • Ultrasonographic Findings

                                                                    DIFFERENTIAL DIAGNOSIS

                                                                      PATHOLOGY

                                                                      • General Features

                                                                        • Staging, Grading, & Classification

                                                                          • Gross Pathologic & Surgical Features

                                                                            CLINICAL ISSUES

                                                                            • Presentation

                                                                              • Demographics

                                                                                • Natural History & Prognosis

                                                                                  • Treatment

                                                                                    DIAGNOSTIC CHECKLIST

                                                                                    • Consider

                                                                                      Selected References

                                                                                      1. Cacciola F et al: Segmental spinal dysgenesis associated with occult dysraphism: Considerations on management strategies. J Craniovertebr Junction Spine. 8(2):144-8, 2017
                                                                                      2. Eibach S et al: Unjoined primary and secondary neural tubes: junctional neural tube defect, a new form of spinal dysraphism caused by disturbance of junctional neurulation. Childs Nerv Syst. 33(10):1633-47, 2017
                                                                                      3. Morell SM et al: Segmental spinal dysgenesis: a report of early surgical intervention and outcome in a 14-month-old child. Childs Nerv Syst. 33(2):381-4, 2017
                                                                                      4. Pavlova OM et al: Surgical treatment of thoracolumbar segmental spinal dysgenesis: Optimal type of fusion. World Neurosurg. 106:551-6, 2017
                                                                                      5. Lenke LG et al: Complications after 147 consecutive vertebral column resections for severe pediatric spinal deformity: a multicenter analysis. Spine (Phila Pa 1976). 38(2):119-32, 2013
                                                                                      6. Pahwa S et al: Segmental spinal dysgenesis: a rare malformation of the spinal cord. Neurol India. 58(2):334-5, 2010
                                                                                      7. Emmanouilidou M et al: Spinal segmental dysgenesis: presentation of a rare spinal congenital abnormality. Neuroradiol J. 21(3):388-92, 2008
                                                                                      8. Bristol RE et al: Segmental spinal dysgenesis: report of four cases and proposed management strategy. Childs Nerv Syst. 23(3):359-64, 2007
                                                                                      9. Fratelli N et al: Prenatal diagnosis of segmental spinal dysgenesis. Prenat Diagn. 27(10):979-81, 2007
                                                                                      10. Ofiram E et al: Segmental spinal dysgenesis: case report of a 50-year follow-up after surgery at age 3 years: case report. Spine (Phila Pa 1976). 31(2):E59-61, 2006
                                                                                      11. Zana E et al: An atypical case of segmental spinal dysgenesis. Pediatr Radiol. 35(9):914-7, 2005
                                                                                      12. Erol B et al: Congenital scoliosis and vertebral malformations: characterization of segmental defects for genetic analysis. J Pediatr Orthop. 24(6):674-82, 2004
                                                                                      13. Rossi A et al: Imaging in spine and spinal cord malformations. Eur J Radiol. 50(2):177-200, 2004
                                                                                      14. Buyse G et al: Segmental spinal cord hypoplasia and meningocele with preservation of medullary function: case report. Surg Neurol. 59(6):505-7; discussion 508, 2003
                                                                                      15. Desai K et al: Congenital thoracic cord segmental amyelia: a rare manifestation of segmental spinal dysgenesis. Pediatr Neurosurg. 38(2):102-6, 2003
                                                                                      16. Tortori-Donati P et al: Segmental spinal dysgenesis: neuroradiologic findings with clinical and embryologic correlation. AJNR Am J Neuroradiol. 20(3):445-56, 1999
                                                                                      17. Dias MS et al: The embryogenesis of congenital vertebral dislocation: early embryonic buckling? Pediatr Neurosurg. 29(6):281-9, 1998
                                                                                      18. Hughes LO et al: Segmental spinal dysgenesis: a report of three cases. J Pediatr Orthop. 18(2):227-32, 1998
                                                                                      19. Achiron R et al: Second-trimester ultrasonographic diagnosis of segmental vertebral abnormalities associated with neurological deficit: a possible new variant of occult spinal dysraphism. Prenat Diagn. 16(8):760-3, 1996
                                                                                      20. Faciszewski T et al: Segmental spinal dysgenesis. A disorder different from spinal agenesis. J Bone Joint Surg Am. 77(4):530-7, 1995
                                                                                      21. Scott RM et al: Segmental spinal dysgenesis. Neurosurgery. 22(4):739-44, 1988