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Vertebral Segmentation Failure
Kevin R. Moore, MD
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Pathology

          • Clinical Issues

            • Diagnostic Checklist

              TERMINOLOGY

              • Synonyms

                • Segmentation anomaly, segmentation & fusion anomaly (SFA), block vertebra, disorganized spine
              • Definitions

                • Vertebral column malformations (block vertebra, neural arch fusion, pediculate bar) resulting from deranged embryological development → failure of normal segmentation

              IMAGING

              • General Features

                • Radiographic Findings

                  • CT Findings

                    • MR Findings

                      • Imaging Recommendations

                        DIFFERENTIAL DIAGNOSIS

                          PATHOLOGY

                          • General Features

                            • Staging, Grading, & Classification

                              • Gross Pathologic & Surgical Features

                                • Microscopic Features

                                  CLINICAL ISSUES

                                  • Presentation

                                    • Demographics

                                      • Natural History & Prognosis

                                        • Treatment

                                          DIAGNOSTIC CHECKLIST

                                          • Consider

                                            • Image Interpretation Pearls

                                              Selected References

                                              1. Chaturvedi A et al: Malformed vertebrae: a clinical and imaging review. Insights Imaging. 9(3):343-55, 2018
                                              2. Pahys JM et al: What's new in congenital scoliosis? J Pediatr Orthop. 38(3):e172-9, 2018
                                              3. Tian Y et al: "Sandwich deformity" in Klippel-Feil syndrome: a "full-spectrum" presentation of associated craniovertebral junction abnormalities. J Clin Neurosci. 53:247-9, 2018
                                              4. Chen W et al: Progress and perspective of TBX6 gene in congenital vertebral malformations. Oncotarget. 7(35):57430-441, 2016
                                              5. Gupta N et al: Vertebral and intraspinal anomalies in Indian population with congenital scoliosis: a study of 119 consecutive patients. Asian Spine J. 10(2):276-81, 2016
                                              6. Johal J et al: Hemivertebrae: a comprehensive review of embryology, imaging, classification, and management. Childs Nerv Syst. 32(11):2105-9, 2016
                                              7. Trenga AP et al: Patterns of congenital bony spinal deformity and associated neural anomalies on X-ray and magnetic resonance imaging. J Child Orthop. 10(4):343-52, 2016
                                              8. Ghandhari H et al: Vertebral, rib, and intraspinal anomalies in congenital scoliosis: a study on 202 Caucasians. Eur Spine J. 24(7):1510-21, 2015
                                              9. Ramadorai U et al: Incidental findings on magnetic resonance imaging of the spine in the asymptomatic pediatric population: a systematic review. Evid Based Spine Care J. 5(2):95-100, 2014
                                              10. Solomon BD et al: An approach to the identification of anomalies and etiologies in neonates with identified or suspected VACTERL (vertebral defects, anal atresia, tracheo-esophageal fistula with esophageal atresia, cardiac anomalies, renal anomalies, and limb anomalies) association. J Pediatr. 164(3):451-7.e1, 2014
                                              11. Xue X et al: Klippel-Feil syndrome in congenital scoliosis. Spine (Phila Pa 1976). 39(23):E1353-8, 2014
                                              12. Eckalbar WL et al: Scoliosis and segmentation defects of the vertebrae. Wiley Interdiscip Rev Dev Biol. 1(3):401-23, 2012
                                              13. Thawait GK et al: Spine segmentation and enumeration and normal variants. Radiol Clin North Am. 50(4):587-98, 2012
                                              14. Kawakami N et al: Classification of congenital scoliosis and kyphosis: a new approach to the three-dimensional classification for progressive vertebral anomalies requiring operative treatment. Spine (Phila Pa 1976). 34(17):1756-65, 2009
                                              15. Menezes AH: Craniocervical developmental anatomy and its implications. Childs Nerv Syst. 24(10):1109-22, 2008
                                              16. Tsirikos AI et al: Congenital anomalies of the ribs and chest wall associated with congenital deformities of the spine. J Bone Joint Surg Am. 87(11):2523-36, 2005
                                              17. Arlet V et al: Congenital scoliosis. Eur Spine J. 12(5):456-63, 2003
                                              18. Cornier AS et al: Controversies surrounding Jarcho-Levin syndrome. Curr Opin Pediatr. 15(6):614-20, 2003
                                              19. Isono M et al: Limited dorsal myeloschisis associated with multiple vertebral segmentation disorder. Pediatr Neurosurg. 36(1):44-7, 2002
                                              20. Kim YJ et al: Surgical treatment of congenital kyphosis. Spine. 26(20):2251-7, 2001
                                              21. Nagashima H et al: No neurological involvement for more than 40 years in Klippel-Feil syndrome with severe hypermobility of the upper cervical spine. Arch Orthop Trauma Surg. 121(1-2):99-101, 2001
                                              22. Suh SW et al: Evaluating congenital spine deformities for intraspinal anomalies with magnetic resonance imaging. J Pediatr Orthop. 21(4):525-31, 2001
                                              23. Jaskwhich D et al: Congenital scoliosis. Curr Opin Pediatr. 12(1):61-6, 2000
                                              24. Yildiran A et al: Semantic and nosological confusions on multiple vertebral segmentation defects. Pediatr Neurosurg. 33(3):168, 2000
                                              25. McMaster MJ et al: Natural history of congenital kyphosis and kyphoscoliosis. A study of one hundred and twelve patients. J Bone Joint Surg Am. 81(10):1367-83, 1999
                                              26. McMaster MJ: Congenital scoliosis caused by a unilateral failure of vertebral segmentation with contralateral hemivertebrae. Spine. 23(9):998-1005, 1998
                                              27. Anderson PJ et al: The cervical spine in Crouzon syndrome. Spine. 22(4):402-5, 1997
                                              28. Aslan Y et al: Multiple vertebral segmentation defects. Brief report of three patients and nosological considerations. Genet Couns. 8(3):241-8, 1997
                                              29. Lopez BC et al: Inadequate PAX-1 gene expression as a cause of agenesis of the thoracolumbar spine with failure of segmentation. Case report. J Neurosurg. 86(6):1018-21, 1997
                                              30. Mortier GR et al: Multiple vertebral segmentation defects: analysis of 26 new patients and review of the literature. Am J Med Genet. 61(4):310-9, 1996
                                              31. Jansen BR et al: Discitis in childhood. 12-35-year follow-up of 35 patients. Acta Orthop Scand. 64(1):33-6, 1993
                                              32. Lee CK et al: Isolated congenital cervical block vertebrae below the axis with neurological symptoms. Spine. 6(2):118-24, 1981
                                              33. Mayfield JK et al: Congenital kyphosis due to defects of anterior segmentation. J Bone Joint Surg Am. 62(8):1291-301, 1980
                                              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

                                                          • Synonyms

                                                            • Segmentation anomaly, segmentation & fusion anomaly (SFA), block vertebra, disorganized spine
                                                          • Definitions

                                                            • Vertebral column malformations (block vertebra, neural arch fusion, pediculate bar) resulting from deranged embryological development → failure of normal segmentation

                                                          IMAGING

                                                          • General Features

                                                            • Radiographic Findings

                                                              • CT Findings

                                                                • MR Findings

                                                                  • Imaging Recommendations

                                                                    DIFFERENTIAL DIAGNOSIS

                                                                      PATHOLOGY

                                                                      • General Features

                                                                        • Staging, Grading, & Classification

                                                                          • Gross Pathologic & Surgical Features

                                                                            • Microscopic Features

                                                                              CLINICAL ISSUES

                                                                              • Presentation

                                                                                • Demographics

                                                                                  • Natural History & Prognosis

                                                                                    • Treatment

                                                                                      DIAGNOSTIC CHECKLIST

                                                                                      • Consider

                                                                                        • Image Interpretation Pearls

                                                                                          Selected References

                                                                                          1. Chaturvedi A et al: Malformed vertebrae: a clinical and imaging review. Insights Imaging. 9(3):343-55, 2018
                                                                                          2. Pahys JM et al: What's new in congenital scoliosis? J Pediatr Orthop. 38(3):e172-9, 2018
                                                                                          3. Tian Y et al: "Sandwich deformity" in Klippel-Feil syndrome: a "full-spectrum" presentation of associated craniovertebral junction abnormalities. J Clin Neurosci. 53:247-9, 2018
                                                                                          4. Chen W et al: Progress and perspective of TBX6 gene in congenital vertebral malformations. Oncotarget. 7(35):57430-441, 2016
                                                                                          5. Gupta N et al: Vertebral and intraspinal anomalies in Indian population with congenital scoliosis: a study of 119 consecutive patients. Asian Spine J. 10(2):276-81, 2016
                                                                                          6. Johal J et al: Hemivertebrae: a comprehensive review of embryology, imaging, classification, and management. Childs Nerv Syst. 32(11):2105-9, 2016
                                                                                          7. Trenga AP et al: Patterns of congenital bony spinal deformity and associated neural anomalies on X-ray and magnetic resonance imaging. J Child Orthop. 10(4):343-52, 2016
                                                                                          8. Ghandhari H et al: Vertebral, rib, and intraspinal anomalies in congenital scoliosis: a study on 202 Caucasians. Eur Spine J. 24(7):1510-21, 2015
                                                                                          9. Ramadorai U et al: Incidental findings on magnetic resonance imaging of the spine in the asymptomatic pediatric population: a systematic review. Evid Based Spine Care J. 5(2):95-100, 2014
                                                                                          10. Solomon BD et al: An approach to the identification of anomalies and etiologies in neonates with identified or suspected VACTERL (vertebral defects, anal atresia, tracheo-esophageal fistula with esophageal atresia, cardiac anomalies, renal anomalies, and limb anomalies) association. J Pediatr. 164(3):451-7.e1, 2014
                                                                                          11. Xue X et al: Klippel-Feil syndrome in congenital scoliosis. Spine (Phila Pa 1976). 39(23):E1353-8, 2014
                                                                                          12. Eckalbar WL et al: Scoliosis and segmentation defects of the vertebrae. Wiley Interdiscip Rev Dev Biol. 1(3):401-23, 2012
                                                                                          13. Thawait GK et al: Spine segmentation and enumeration and normal variants. Radiol Clin North Am. 50(4):587-98, 2012
                                                                                          14. Kawakami N et al: Classification of congenital scoliosis and kyphosis: a new approach to the three-dimensional classification for progressive vertebral anomalies requiring operative treatment. Spine (Phila Pa 1976). 34(17):1756-65, 2009
                                                                                          15. Menezes AH: Craniocervical developmental anatomy and its implications. Childs Nerv Syst. 24(10):1109-22, 2008
                                                                                          16. Tsirikos AI et al: Congenital anomalies of the ribs and chest wall associated with congenital deformities of the spine. J Bone Joint Surg Am. 87(11):2523-36, 2005
                                                                                          17. Arlet V et al: Congenital scoliosis. Eur Spine J. 12(5):456-63, 2003
                                                                                          18. Cornier AS et al: Controversies surrounding Jarcho-Levin syndrome. Curr Opin Pediatr. 15(6):614-20, 2003
                                                                                          19. Isono M et al: Limited dorsal myeloschisis associated with multiple vertebral segmentation disorder. Pediatr Neurosurg. 36(1):44-7, 2002
                                                                                          20. Kim YJ et al: Surgical treatment of congenital kyphosis. Spine. 26(20):2251-7, 2001
                                                                                          21. Nagashima H et al: No neurological involvement for more than 40 years in Klippel-Feil syndrome with severe hypermobility of the upper cervical spine. Arch Orthop Trauma Surg. 121(1-2):99-101, 2001
                                                                                          22. Suh SW et al: Evaluating congenital spine deformities for intraspinal anomalies with magnetic resonance imaging. J Pediatr Orthop. 21(4):525-31, 2001
                                                                                          23. Jaskwhich D et al: Congenital scoliosis. Curr Opin Pediatr. 12(1):61-6, 2000
                                                                                          24. Yildiran A et al: Semantic and nosological confusions on multiple vertebral segmentation defects. Pediatr Neurosurg. 33(3):168, 2000
                                                                                          25. McMaster MJ et al: Natural history of congenital kyphosis and kyphoscoliosis. A study of one hundred and twelve patients. J Bone Joint Surg Am. 81(10):1367-83, 1999
                                                                                          26. McMaster MJ: Congenital scoliosis caused by a unilateral failure of vertebral segmentation with contralateral hemivertebrae. Spine. 23(9):998-1005, 1998
                                                                                          27. Anderson PJ et al: The cervical spine in Crouzon syndrome. Spine. 22(4):402-5, 1997
                                                                                          28. Aslan Y et al: Multiple vertebral segmentation defects. Brief report of three patients and nosological considerations. Genet Couns. 8(3):241-8, 1997
                                                                                          29. Lopez BC et al: Inadequate PAX-1 gene expression as a cause of agenesis of the thoracolumbar spine with failure of segmentation. Case report. J Neurosurg. 86(6):1018-21, 1997
                                                                                          30. Mortier GR et al: Multiple vertebral segmentation defects: analysis of 26 new patients and review of the literature. Am J Med Genet. 61(4):310-9, 1996
                                                                                          31. Jansen BR et al: Discitis in childhood. 12-35-year follow-up of 35 patients. Acta Orthop Scand. 64(1):33-6, 1993
                                                                                          32. Lee CK et al: Isolated congenital cervical block vertebrae below the axis with neurological symptoms. Spine. 6(2):118-24, 1981
                                                                                          33. Mayfield JK et al: Congenital kyphosis due to defects of anterior segmentation. J Bone Joint Surg Am. 62(8):1291-301, 1980