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Failure of Vertebral Formation
Kevin R. Moore, MD
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Pathology

          • Clinical Issues

            • Diagnostic Checklist

              TERMINOLOGY

              • Synonyms

                • Vertebral dysplasia, segmentation and fusion anomaly (SFA), "disorganized spine"
              • Definitions

                • Partial or complete failure of vertebral formation
                  • Partial formation failure → wedge vertebra
                  • Complete formation failure → vertebral aplasia, hemivertebra, butterfly vertebra

              IMAGING

              • General Features

                • Radiographic Findings

                  • CT Findings

                    • MR Findings

                      • Imaging Recommendations

                        DIFFERENTIAL DIAGNOSIS

                          PATHOLOGY

                          • General Features

                            • Gross Pathologic & Surgical Features

                              • Microscopic Features

                                CLINICAL ISSUES

                                • Presentation

                                  • Demographics

                                    • Natural History & Prognosis

                                      • Treatment

                                        DIAGNOSTIC CHECKLIST

                                        • Consider

                                          • Image Interpretation Pearls

                                            Selected References

                                            1. 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
                                            2. 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
                                            3. Eckalbar WL et al: Scoliosis and segmentation defects of the vertebrae. Wiley Interdiscip Rev Dev Biol. 1(3):401-23, 2012
                                            4. Thawait GK et al: Spine segmentation and enumeration and normal variants. Radiol Clin North Am. 50(4):587-98, 2012
                                            5. Winter RB et al: Scoliosis secondary to a hemivertebra: seven patients with gradual improvement without treatment. Spine (Phila Pa 1976). 35(2):E49-52, 2010
                                            6. 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
                                            7. Noordeen MH et al: The surgical treatment of congenital kyphosis. Spine (Phila Pa 1976). 34(17):1808-14, 2009
                                            8. Patinharayil G et al: Butterfly vertebra: an uncommon congenital spinal anomaly. Spine (Phila Pa 1976). 33(24):E926-8, 2008
                                            9. Wax JR et al: Prenatal sonographic diagnosis of hemivertebrae: associations and outcomes. J Ultrasound Med. 27(7):1023-7, 2008
                                            10. Fernandes T et al: Klippel-Feil syndrome with other associated anomalies in a medieval Portuguese skeleton (13th-15th century). J Anat. 211(5):681-5, 2007
                                            11. Satpathy A et al: Compression fracture or butterfly vertebra: diagnostic importance in a trauma setting. Ann R Coll Surg Engl. 86(6):W41-3, 2004
                                            12. Arlet V et al: Congenital scoliosis. Eur Spine J. 12(5):456-63, 2003
                                            13. Isono M et al: Limited dorsal myeloschisis associated with multiple vertebral segmentation disorder. Pediatr Neurosurg. 36(1):44-7, 2002
                                            14. Kim YJ et al: Surgical treatment of congenital kyphosis. Spine. 26(20):2251-7, 2001
                                            15. Suh SW et al: Evaluating congenital spine deformities for intraspinal anomalies with magnetic resonance imaging. J Pediatr Orthop. 21(4):525-31, 2001
                                            16. Jaskwhich D et al: Congenital scoliosis. Curr Opin Pediatr. 12(1):61-6, 2000
                                            17. 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
                                            18. Tortori-Donati P et al: Segmental spinal dysgenesis: neuroradiologic findings with clinical and embryologic correlation. AJNR Am J Neuroradiol. 20(3):445-56, 1999
                                            19. Hayman LA et al: Bony spine and costal elements, Part II. Int J Neurorad. 4(1):61-68, 1998
                                            20. McMaster MJ: Congenital scoliosis caused by a unilateral failure of vertebral segmentation with contralateral hemivertebrae. Spine. 23(9):998-1005, 1998
                                            21. Aslan Y et al: Multiple vertebral segmentation defects. Brief report of three patients and nosological considerations. Genet Couns. 8(3):241-8, 1997
                                            22. 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
                                            23. Martinez-Frias ML: Multiple vertebral segmentation defects and rib anomalies. Am J Med Genet. 66(1):91, 1996
                                            24. 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
                                            25. Mayfield JK et al: Congenital kyphosis due to defects of anterior segmentation. J Bone Joint Surg Am. 62(8):1291-301, 1980
                                            26. MacEwen GD et al: Scoliosis--a deforming childhood problem. Clin Pediatr (Phila). 6(4):210-6, 1967
                                            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

                                                          • Vertebral dysplasia, segmentation and fusion anomaly (SFA), "disorganized spine"
                                                        • Definitions

                                                          • Partial or complete failure of vertebral formation
                                                            • Partial formation failure → wedge vertebra
                                                            • Complete formation failure → vertebral aplasia, hemivertebra, butterfly vertebra

                                                        IMAGING

                                                        • General Features

                                                          • Radiographic Findings

                                                            • CT Findings

                                                              • MR Findings

                                                                • Imaging Recommendations

                                                                  DIFFERENTIAL DIAGNOSIS

                                                                    PATHOLOGY

                                                                    • General Features

                                                                      • Gross Pathologic & Surgical Features

                                                                        • Microscopic Features

                                                                          CLINICAL ISSUES

                                                                          • Presentation

                                                                            • Demographics

                                                                              • Natural History & Prognosis

                                                                                • Treatment

                                                                                  DIAGNOSTIC CHECKLIST

                                                                                  • Consider

                                                                                    • Image Interpretation Pearls

                                                                                      Selected References

                                                                                      1. 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
                                                                                      2. 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
                                                                                      3. Eckalbar WL et al: Scoliosis and segmentation defects of the vertebrae. Wiley Interdiscip Rev Dev Biol. 1(3):401-23, 2012
                                                                                      4. Thawait GK et al: Spine segmentation and enumeration and normal variants. Radiol Clin North Am. 50(4):587-98, 2012
                                                                                      5. Winter RB et al: Scoliosis secondary to a hemivertebra: seven patients with gradual improvement without treatment. Spine (Phila Pa 1976). 35(2):E49-52, 2010
                                                                                      6. 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
                                                                                      7. Noordeen MH et al: The surgical treatment of congenital kyphosis. Spine (Phila Pa 1976). 34(17):1808-14, 2009
                                                                                      8. Patinharayil G et al: Butterfly vertebra: an uncommon congenital spinal anomaly. Spine (Phila Pa 1976). 33(24):E926-8, 2008
                                                                                      9. Wax JR et al: Prenatal sonographic diagnosis of hemivertebrae: associations and outcomes. J Ultrasound Med. 27(7):1023-7, 2008
                                                                                      10. Fernandes T et al: Klippel-Feil syndrome with other associated anomalies in a medieval Portuguese skeleton (13th-15th century). J Anat. 211(5):681-5, 2007
                                                                                      11. Satpathy A et al: Compression fracture or butterfly vertebra: diagnostic importance in a trauma setting. Ann R Coll Surg Engl. 86(6):W41-3, 2004
                                                                                      12. Arlet V et al: Congenital scoliosis. Eur Spine J. 12(5):456-63, 2003
                                                                                      13. Isono M et al: Limited dorsal myeloschisis associated with multiple vertebral segmentation disorder. Pediatr Neurosurg. 36(1):44-7, 2002
                                                                                      14. Kim YJ et al: Surgical treatment of congenital kyphosis. Spine. 26(20):2251-7, 2001
                                                                                      15. Suh SW et al: Evaluating congenital spine deformities for intraspinal anomalies with magnetic resonance imaging. J Pediatr Orthop. 21(4):525-31, 2001
                                                                                      16. Jaskwhich D et al: Congenital scoliosis. Curr Opin Pediatr. 12(1):61-6, 2000
                                                                                      17. 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
                                                                                      18. Tortori-Donati P et al: Segmental spinal dysgenesis: neuroradiologic findings with clinical and embryologic correlation. AJNR Am J Neuroradiol. 20(3):445-56, 1999
                                                                                      19. Hayman LA et al: Bony spine and costal elements, Part II. Int J Neurorad. 4(1):61-68, 1998
                                                                                      20. McMaster MJ: Congenital scoliosis caused by a unilateral failure of vertebral segmentation with contralateral hemivertebrae. Spine. 23(9):998-1005, 1998
                                                                                      21. Aslan Y et al: Multiple vertebral segmentation defects. Brief report of three patients and nosological considerations. Genet Couns. 8(3):241-8, 1997
                                                                                      22. 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
                                                                                      23. Martinez-Frias ML: Multiple vertebral segmentation defects and rib anomalies. Am J Med Genet. 66(1):91, 1996
                                                                                      24. 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
                                                                                      25. Mayfield JK et al: Congenital kyphosis due to defects of anterior segmentation. J Bone Joint Surg Am. 62(8):1291-301, 1980
                                                                                      26. MacEwen GD et al: Scoliosis--a deforming childhood problem. Clin Pediatr (Phila). 6(4):210-6, 1967