Vertebral column malformations (block vertebra, neural arch fusion, pediculate bar) resulting from deranged embryologic 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
Chaturvedi A et al: Malformed vertebrae: a clinical and imaging review. Insights Imaging. 9(3):343-55, 2018
Pahys JM et al: What's new in congenital scoliosis? J Pediatr Orthop. 38(3):e172-9, 2018
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
Chen W et al: Progress and perspective of TBX6 gene in congenital vertebral malformations. Oncotarget. 7(35):57430-41, 2016
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
Johal J et al: Hemivertebrae: a comprehensive review of embryology, imaging, classification, and management. Childs Nerv Syst. 32(11):2105-9, 2016
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
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
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
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
Xue X et al: Klippel-Feil syndrome in congenital scoliosis. Spine (Phila Pa 1976). 39(23):E1353-8, 2014
Eckalbar WL et al: Scoliosis and segmentation defects of the vertebrae. Wiley Interdiscip Rev Dev Biol. 1(3):401-23, 2012
Thawait GK et al: Spine segmentation and enumeration and normal variants. Radiol Clin North Am. 50(4):587-98, 2012
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
Menezes AH: Craniocervical developmental anatomy and its implications. Childs Nerv Syst. 24(10):1109-22, 2008
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
Arlet V et al: Congenital scoliosis. Eur Spine J. 12(5):456-63, 2003
Cornier AS et al: Controversies surrounding Jarcho-Levin syndrome. Curr Opin Pediatr. 15(6):614-20, 2003
Isono M et al: Limited dorsal myeloschisis associated with multiple vertebral segmentation disorder. Pediatr Neurosurg. 36(1):44-7, 2002
Kim YJ et al: Surgical treatment of congenital kyphosis. Spine. 26(20):2251-7, 2001
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
Suh SW et al: Evaluating congenital spine deformities for intraspinal anomalies with magnetic resonance imaging. J Pediatr Orthop. 21(4):525-31, 2001
Jaskwhich D et al: Congenital scoliosis. Curr Opin Pediatr. 12(1):61-6, 2000
Yildiran A et al: Semantic and nosological confusions on multiple vertebral segmentation defects. Pediatr Neurosurg. 33(3):168, 2000
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
McMaster MJ: Congenital scoliosis caused by a unilateral failure of vertebral segmentation with contralateral hemivertebrae. Spine. 23(9):998-1005, 1998
Anderson PJ et al: The cervical spine in Crouzon syndrome. Spine. 22(4):402-5, 1997
Aslan Y et al: Multiple vertebral segmentation defects. Brief report of three patients and nosological considerations. Genet Couns. 8(3):241-8, 1997
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
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
Jansen BR et al: Discitis in childhood. 12-35-year follow-up of 35 patients. Acta Orthop Scand. 64(1):33-6, 1993
Lee CK et al: Isolated congenital cervical block vertebrae below the axis with neurological symptoms. Spine. 6(2):118-24, 1981
Mayfield JK et al: Congenital kyphosis due to defects of anterior segmentation. J Bone Joint Surg Am. 62(8):1291-301, 1980
Vertebral column malformations (block vertebra, neural arch fusion, pediculate bar) resulting from deranged embryologic 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
Chaturvedi A et al: Malformed vertebrae: a clinical and imaging review. Insights Imaging. 9(3):343-55, 2018
Pahys JM et al: What's new in congenital scoliosis? J Pediatr Orthop. 38(3):e172-9, 2018
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
Chen W et al: Progress and perspective of TBX6 gene in congenital vertebral malformations. Oncotarget. 7(35):57430-41, 2016
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
Johal J et al: Hemivertebrae: a comprehensive review of embryology, imaging, classification, and management. Childs Nerv Syst. 32(11):2105-9, 2016
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
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
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
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
Xue X et al: Klippel-Feil syndrome in congenital scoliosis. Spine (Phila Pa 1976). 39(23):E1353-8, 2014
Eckalbar WL et al: Scoliosis and segmentation defects of the vertebrae. Wiley Interdiscip Rev Dev Biol. 1(3):401-23, 2012
Thawait GK et al: Spine segmentation and enumeration and normal variants. Radiol Clin North Am. 50(4):587-98, 2012
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
Menezes AH: Craniocervical developmental anatomy and its implications. Childs Nerv Syst. 24(10):1109-22, 2008
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
Arlet V et al: Congenital scoliosis. Eur Spine J. 12(5):456-63, 2003
Cornier AS et al: Controversies surrounding Jarcho-Levin syndrome. Curr Opin Pediatr. 15(6):614-20, 2003
Isono M et al: Limited dorsal myeloschisis associated with multiple vertebral segmentation disorder. Pediatr Neurosurg. 36(1):44-7, 2002
Kim YJ et al: Surgical treatment of congenital kyphosis. Spine. 26(20):2251-7, 2001
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
Suh SW et al: Evaluating congenital spine deformities for intraspinal anomalies with magnetic resonance imaging. J Pediatr Orthop. 21(4):525-31, 2001
Jaskwhich D et al: Congenital scoliosis. Curr Opin Pediatr. 12(1):61-6, 2000
Yildiran A et al: Semantic and nosological confusions on multiple vertebral segmentation defects. Pediatr Neurosurg. 33(3):168, 2000
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
McMaster MJ: Congenital scoliosis caused by a unilateral failure of vertebral segmentation with contralateral hemivertebrae. Spine. 23(9):998-1005, 1998
Anderson PJ et al: The cervical spine in Crouzon syndrome. Spine. 22(4):402-5, 1997
Aslan Y et al: Multiple vertebral segmentation defects. Brief report of three patients and nosological considerations. Genet Couns. 8(3):241-8, 1997
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
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
Jansen BR et al: Discitis in childhood. 12-35-year follow-up of 35 patients. Acta Orthop Scand. 64(1):33-6, 1993
Lee CK et al: Isolated congenital cervical block vertebrae below the axis with neurological symptoms. Spine. 6(2):118-24, 1981
Mayfield JK et al: Congenital kyphosis due to defects of anterior segmentation. J Bone Joint Surg Am. 62(8):1291-301, 1980
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