Scoliosis and Other Congenital Vertebral Anomalies

  • Mari L. Groves
  • Andrew C. Vivas
  • Amer F. Samdani
Living reference work entry

Abstract

Congenital vertebral malformations with scoliosis result from embryological defects in vertebral element formation or segmentation. Etiologies include genetic causes as well as environmental factors. Patients have an increased incidence of associated anomalies that involve cardiac, genitourinary, and neurological systems. Clinical significance of curve progression depends on the age at diagnosis, location of the curve, and the nature of the underlying vertebral malformation. Surgical intervention may be appropriate in younger patients with thoracolumbar deformities and specific vertebral anomalies. Surgical options include convex hemiepiphysiodesis, instrumented fusion, osteotomies and vertebrectomies, as well as growing systems. This chapter will discuss diagnosis, workup, and treatment strategies for congenital scoliosis.

Keywords

Congenital scoliosis Congenital vertebral malformation Failure of formation and segmentation Intraspinal anomalies Hemivertebrae Kyphoscoliosis Multisystemic congenital malformations Hemivertebrae excision Convex hemiepiphysiodesis Vertical expandable prosthetic titanium rib (VEPTR) Growing rod systems 

References

  1. Andras LM, Joiner ER, McCarthy RE, McCullough L, Luhmann SJ, Sponseller PD, Emans JB, Barrett KK, Skaggs DL, Growing Spine Study Group (2015) Growing rods versus Shilla growth guidance: better Cobb angle correction and T1-S1 length increase but more surgeries. Spine Deform 3:246–252CrossRefPubMedGoogle Scholar
  2. Basu PS, Elsebaie H, Noordeen MH (2002) Congenital spinal deformity: a comprehensive assessment at presentation. Spine (Phila Pa 1976) 27:2255–2259. doi: 10.1097/01.BRS.0000029425.58936.BA CrossRefGoogle Scholar
  3. Batra S, Ahuja S (2008) Congenital scoliosis: management and future directions. Acta Orthop Belg 74:147–160PubMedGoogle Scholar
  4. Beals RK, Robbins JR, Rolfe B (1993) Anomalies associated with vertebral malformations. Spine (Phila Pa 1976) 18:1329–1332CrossRefGoogle Scholar
  5. Bernard TN Jr, Burke SW, Johnston CE, Roberts JM (1985) Congenital spine deformities. A review of 47 cases. Orthopedics 8:777–783PubMedGoogle Scholar
  6. Bess S, Akbarnia BA, Thompson GH, Sponseller PD, Shah SA, El Sebaie H, Boachie-Adjei O, Karlin LI, Canale S, Poe-Kochert C, Skaggs DL (2010) Complications of growing-rod treatment for early-onset scoliosis: analysis of one hundred and forty patients. J Bone Joint Surg Am 92:2533–2543. doi: 10.2106/JBJS.I.01471 CrossRefPubMedGoogle Scholar
  7. Bollini G, Launay F, Docquier PL, Viehweger E, Jouve JL (2010) Congenital abnormalities associated with hemivertebrae in relation to hemivertebrae location. J Pediatr Orthop B 19:90–94. doi: 10.1097/BPB.0b013e3283327f57 CrossRefPubMedGoogle Scholar
  8. Chan G, Dormans JP (2009) Update on congenital spinal deformities: preoperative evaluation. Spine (Phila Pa 1976) 34:1766–1774CrossRefGoogle Scholar
  9. Cheung KM, Zhang JG, Lu DS, KL KD, YL JC (2002) Ten-year follow-up study of lower thoracic hemivertebrae treated by convex fusion and concave distraction. Spine (Phila Pa 1976) 27:748–753CrossRefGoogle Scholar
  10. Dede O, Motoyama EK, Yang CI, Mutich RL, Walczak SA, Bowles AJ, Deeney VF (2014) Pulmonary and radiographic outcomes of VEPTR (vertical expandable prosthetic titanium rib) treatment in early-onset scoliosis. J Bone Joint Surg Am 96:1295–1302. doi: 10.2106/jbjs.m.01218 CrossRefPubMedGoogle Scholar
  11. Farley FA, Vander Have KL, Hensinger RN, Streit J, Zhang L, Caird MS (2011) Outcomes after spinal fusion for congenital scoliosis: instrumented versus uninstrumented spinal fusion. Spine (Phila Pa 1976) 36:E112–E122. doi: 10.1097/BRS.0B013e3181efaf5c CrossRefGoogle Scholar
  12. Ghandhari H, Tari HV, Ameri E, Safari MB, Fouladi DF (2015) Vertebral, rib, and intraspinal anomalies in congenital scoliosis: a study on 202 Caucasians. Eur Spine J 24:1510–1521. doi: 10.1007/s00586-015-3833-1 CrossRefPubMedGoogle Scholar
  13. Giampietro PF, Raggio CL, Blank RD, McCarty C, Broeckel U, Pickart MA (2013) Clinical, genetic and environmental factors associated with congenital vertebral malformations. Mol Syndromol 4:94–105. doi: 10.1159/000345329 PubMedGoogle Scholar
  14. Hedequist DJ, Emans J (2007) Congenital scoliosis: a review and update. J Pediatr Orthop 27:106–116CrossRefPubMedGoogle Scholar
  15. Hedequist DJ, Hall JE, Emans JB (2004) The safety and efficacy of spinal instrumentation in children with congenital spine deformities. Spine (Phila Pa 1976) 29:2081–2086. discussion 2087CrossRefGoogle Scholar
  16. Hickey BA, Towriss C, Baxter G, Yasso S, James S, Jones A, Howes J, Davies P, Ahuja S (2014) Early experience of MAGEC magnetic growing rods in the treatment of early onset scoliosis. Eur Spine J 23(Suppl 1):S61–S65. doi: 10.1007/s00586-013-3163-0 CrossRefPubMedGoogle Scholar
  17. Huang JH, Yang WZ, Shen C, Chang MS, Li H, Luo ZJ, Tao HR (2015) Surgical treatment of congenital scoliosis associated with tethered cord by thoracic spine-shortening osteotomy without cord detethering. Spine (Phila Pa 1976) 40:E1103–E1109. doi: 10.1097/BRS.0000000000001035 CrossRefGoogle Scholar
  18. Jalanko T, Rintala R, Puisto V, Helenius I (2011) Hemivertebra resection for congenital scoliosis in young children: comparison of clinical, radiographic, and health-related quality of life outcomes between the anteroposterior and posterolateral approaches. Spine (Phila Pa 1976) 36:41–49CrossRefGoogle Scholar
  19. Johal J, Loukas M, Fisahn C, Chapman JR, Oskouian RJ, Tubbs RS (2016) Hemivertebrae: a comprehensive review of embryology, imaging, classification, and management. Childs Nerv Syst 32:2105–2109CrossRefPubMedGoogle Scholar
  20. Kauczor HU, Hast J, Heussel CP, Schlegel J, Mildenberger P, Thelen M (2002) CT attenuation of paired HRCT scans obtained at full inspiratory/expiratory position: comparison with pulmonary function tests. Eur Radiol 12:2757–2763. doi: 10.1007/s00330-002-1514-z CrossRefPubMedGoogle Scholar
  21. Kesling KL, Lonstein JE, Denis F, Perra JH, Schwender JD, Transfeldt EE, Winter RB (2003) The crankshaft phenomenon after posterior spinal arthrodesis for congenital scoliosis: a review of 54 patients. Spine (Phila Pa 1976) 28:267–271Google Scholar
  22. Letts RM, Bobechko WP (1974) Fusion of the scoliotic spine in young children. Clin Orthop Relat Res 101:136–145Google Scholar
  23. Louis ML, Gennari JM, Loundou AD, Bollini G, Bergoin M, Bernard JC, Biot B, Bonnard C, Clement JL, Garin C, Kamoun K, Kreichati G, Lascombes P, Mallet JF, Miladi L, Sales de Gauzy J, Topouchian V, Vital JM (2010) Congenital scoliosis: a frontal plane evaluation of 251 operated patients 14 years old or older at follow-up. Orthop Traumatol Surg Res 96:741–747. doi: 10.1016/j.otsr.2010.06.002 CrossRefPubMedGoogle Scholar
  24. Maisenbacher MK, Han JS, O'Brien ML, Tracy MR, Erol B, Schaffer AA, Dormans JP, Zackai EH, Kusumi K (2005) Molecular analysis of congenital scoliosis: a candidate gene approach. Hum Genet 116:416–419. doi: 10.1007/s00439-005-1253-8 CrossRefPubMedGoogle Scholar
  25. McMaster MJ (1984) Occult intraspinal anomalies and congenital scoliosis. J Bone Joint Surg Am 66:588–601CrossRefPubMedGoogle Scholar
  26. McMaster MJ (1998) Congenital scoliosis caused by a unilateral failure of vertebral segmentation with contralateral hemivertebrae. Spine (Phila Pa 1976) 23:998–1005CrossRefGoogle Scholar
  27. McMaster MJ, David CV (1986) Hemivertebra as a cause of scoliosis: a study of 104 patients. J Bone Joint Surg (Br) 68:588–595Google Scholar
  28. McMaster MJ, McMaster ME (2013) Prognosis for congenital scoliosis due to a unilateral failure of vertebral segmentation. J Bone Joint Surg Am 95:972–979. doi: 10.2106/jbjs.l.01096 CrossRefPubMedGoogle Scholar
  29. McMaster MJ, Ohtsuka K (1982) The natural history of congenital scoliosis. A study of two hundred and fifty-one patients. J Bone Joint Surg Am 64:1128–1147CrossRefPubMedGoogle Scholar
  30. McMaster MJ, Singh H (1999) Natural history of congenital kyphosis and kyphoscoliosis a study of one hundred and twelve patients. J Bone Joint Surg Am 81:1367–1383CrossRefPubMedGoogle Scholar
  31. McMaster MJ, Glasby MA, Singh H, Cunningham S (2007) Lung function in congenital kyphosis and kyphoscoliosis. J Spinal Disord Tech 20:203–208. doi: 10.1097/01.bsd.0000211270.51368.43 CrossRefPubMedGoogle Scholar
  32. Muirhead A, Conner AN (1985) The assessment of lung function in children with scoliosis. J Bone Joint Surg (Br) 67:699–702CrossRefGoogle Scholar
  33. Nakajima A, Kawakami N, Imagama S, Tsuji T, Goto M, Ohara T (2007) Three-dimensional analysis of formation failure in congenital scoliosis. Spine (Phila Pa 1976) 32:562–567. doi: 10.1097/01.brs.0000256386.26757.ed CrossRefGoogle Scholar
  34. Newton PO, Hahn GW, Fricka KB, Wenger DR (2002) Utility of three-dimensional and multiplanar reformatted computed tomography for evaluation of pediatric congenital spine abnormalities. Spine (Phila Pa 1976) 27:844–850CrossRefGoogle Scholar
  35. Pastorelli F, Di Silvestre M, Plasmati R, Michelucci R, Greggi T, Morigi A, Bacchin MR, Bonarelli S, Cioni A, Vommaro F, Fini N, Lolli F, Parisini P (2011) The prevention of neural complications in the surgical treatment of scoliosis: the role of the neurophysiological intraoperative monitoring. Eur Spine J 20(Suppl 1):S105–S114. doi: 10.1007/s00586-011-1756-z CrossRefPubMedGoogle Scholar
  36. Rajasekaran S, Kamath V, Kiran R, Shetty AP (2010) Intraspinal anomalies in scoliosis: an MRI analysis of 177 consecutive scoliosis patients. Indian J Orthop 44:57–63. doi: 10.4103/0019-5413.58607 CrossRefPubMedPubMedCentralGoogle Scholar
  37. Reames DL, Smith JS, Fu KM, Polly DW Jr, Ames CP, Berven SH, Perra JH, Glassman SD, McCarthy RE, Knapp RD Jr, Heary R, Shaffrey CI (2011) Complications in the surgical treatment of 19,360 cases of pediatric scoliosis: a review of the Scoliosis Research Society morbidity and mortality database. Spine (Phila Pa 1976) 36:1484–1491. doi: 10.1097/BRS.0b013e3181f3a326 CrossRefGoogle Scholar
  38. Rinella A, Lenke L, Whitaker C, Kim Y, Park SS, Peelle M, Edwards C, Bridwell K (2005) Perioperative halo-gravity traction in the treatment of severe scoliosis and kyphosis. Spine (Phila Pa 1976) 30:475–482CrossRefGoogle Scholar
  39. Shahcheraghi GH, Hobbi MH (1999) Patterns and progression in congenital scoliosis. J Pediatr Orthop 19:766–775PubMedGoogle Scholar
  40. Shen J, Wang Z, Liu J, Zue X, Qiu G (2013) Abnormalities associated with congenital scoliosis: a retrospective study of 226 Chinese surgical cases. Spine (Phila Pa 1976) 38:814–818. doi: 10.1097/BRS.0b013e31827ed125 CrossRefGoogle Scholar
  41. Uzumcugil A, Cil A, Yazici M, Acaroglu E, Alanay A, Aksoy C, Surat A (2004) Convex growth arrest in the treatment of congenital spinal deformities, revisited. J Pediatr Orthop 24:658–666CrossRefPubMedGoogle Scholar
  42. Vitale MG, Matsumoto H, Bye MR, Gomez JA, Booker WA, Hyman JE, Roye DP Jr (2008) A retrospective cohort study of pulmonary function, radiographic measures, and quality of life in children with congenital scoliosis: an evaluation of patient outcomes after early spinal fusion. Spine (Phila Pa 1976) 33:1242–1249. doi: 10.1097/BRS.0b013e3181714536 CrossRefGoogle Scholar
  43. Wang S, Zhang J, Qiu G, Wang Y, Li S, Zhao Y, Shen J, Weng X (2012) Dual growing rods technique for congenital scoliosis: more than 2 years outcomes: preliminary results of a single center. Spine (Phila Pa 1976) 37:E1639–E1644. doi: 10.1097/BRS.0b013e318273d6bf CrossRefGoogle Scholar
  44. Watanabe K, Uno K, Suzuki T, Kawakami N, Tsuji T, Yanagida H, Ito M, Hirano T, Yamazaki K, Minami S, Kotani T, Taneichi H, Imagama S, Takeshita K, Yamamoto T, Matsumoto M (2013) Risk factors for complications associated with growing-rod surgery for early-onset scoliosis. Spine (Phila Pa 1976) 38:E464–E468. doi: 10.1097/BRS.0b013e318288671a CrossRefGoogle Scholar
  45. Winter RB, Moe JH, Eilers VE (1968) Congenital scoliosis: a study of 234 patients treated and untreated. J Bone Joint Surg Am 50:1–47CrossRefGoogle Scholar
  46. Winter RB, Moe JH, Lonstein JE (1984) Posterior spinal arthrodesis for congenital scoliosis: an analysis of 290 patients 5 to 19 years old. J Bone Joint Surg Am 66:1188–1197CrossRefPubMedGoogle Scholar
  47. Winter RB, Lonstein JE, Denis F, Sta-Ana de la Rosa H (1988) Convex growth arrest for progressive congenital scoliosis due to hemivertebrae. J Pediatr Orthop 8:633–638CrossRefPubMedGoogle Scholar
  48. Yazici M, Acaroglu ER, Alanay A, Deviren V, Cila A, Surat A (2001) Measurement of vertebral rotation in standing versus supine position in adolescent idiopathic scoliosis. J Pediatr Orthop 21:252–256PubMedGoogle Scholar
  49. Zhuang Q, Zhang J, Li S, Wang S, Guo J, Qiu G (2016) One-stage posterior-only lumbosacral hemivertebra resection with short segmental fusion: a more than 2-year follow-up. Eur Spine J 25:1567–1574. doi: 10.1007/s00586-015-3995-x CrossRefPubMedGoogle Scholar
  50. Zivkovic V, Buchler P, Ovadia D, Riise R, Stuecker R, Hasler C (2014) Extraspinal ossifications after implantation of vertical expandable prosthetic titanium ribs (VEPTRs). J Child Orthop 8:237–244. doi: 10.1007/s11832-014-0585-0 CrossRefPubMedPubMedCentralGoogle Scholar

Copyright information

© Springer International Publishing AG 2017

Authors and Affiliations

  • Mari L. Groves
    • 1
  • Andrew C. Vivas
    • 2
  • Amer F. Samdani
    • 2
  1. 1.Department of Neurological SurgeryJohns Hopkins MedicineBaltimoreUSA
  2. 2.Shriners Hospitals for Children-PhiladelphiaPhiladelphiaUSA

Section editors and affiliations

  • Dachling Pang
    • 1
  • Kyu-Chang Wang
    • 2
  • Dominic Thompson
    • 3
  1. 1.Davis; and Kaiser Permanente Hospitals of Northern CaliforniaUniversity of CaliforniaOaklandUnited States of America
  2. 2.Seoul National UniversitySeoulRepublic of Korea
  3. 3.Institute of Child HealthUniversity College LondonLondonUK

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