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Congenital Malformations

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Abstract

Congenital malformations of the occipitocervical junctional region are very rare in daily practice. Nevertheless, despite they are seldom and briefly reported in specialized books (a single page in the super-specialized one by Mallet et Lechevalier) or papers (most of times on a case), its knowledge is not anecdotic and it is obliged for doctors devoted to cervical spine conditions.

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References

  1. Bailey RW, Sherk HH, Dunn EJ et al (eds) (1983) The cervical spine. The Cervical Spine Research Society, Lippincott, London

    Google Scholar 

  2. Epstein BS (1964) The spine. A radiological text and atlas. Lea & Febiger, Philadelphia

    Google Scholar 

  3. Roy-Camille R, Doursounian L, Henry P et al (1986) Les malformations osseuses de la Charnière Cranio-Rachidienne. In: Roy-Camille R (ed) Rachis Cervical Supérieur. Cinquièmes Journées d’Orthopédie de la Pitié, Masson, Paris, pp 3–10

    Google Scholar 

  4. Roy-Camille R, Léonard Ph, Mamoudy P (1986) Embriologie et Phylogenèse. de l’Articulation Cranio-vertébrale. In: Roy-Camille R (ed) Rachis cervical Supérieur. Cinquièmes Journées d’Orthopédie de la Pitié, Masson, Paris, pp 3–10

    Google Scholar 

  5. Sherk HH, Fielding JW (eds) (1978) Symposium on the upper cervical spine. Orthop Clin North Am 9(4):865–1143

    Google Scholar 

  6. Mallet JF, Lechevallier J (eds) (1993) Chirurgie et Orthopédie du Rachis Cervical de l’enfant. Monographie du Group d’Étude en Orthopédie Pédiatrique. Sauramps Médical, Montpellier

    Google Scholar 

  7. Touzet PH (1993) Les malformations vertébrales du rachis cervical. In: Mallet JF, Lechevallier J (eds) Chirurgie et Orthopédie du Rachis Cervical de l’enfant. Monographie du Group d’Étude en Orthopédie Pédiatrique. Sauramps Médical, Montpellier, pp 101–114

    Google Scholar 

  8. Shapiro R, Youngberg AS, Rothman SLG (1973) The differential diagnosis of traumatic lesions of the occipito-atlanto-axial segment. Radiol Clin North Amer XI:505–526

    Google Scholar 

  9. Ding X, Abumi K, Ito M et al (2012) A retrospective study of congenital osseous anomalies at the craniocervictreated by occipitocervical plate-rod system. Eur Spine J 21:1580–1589

    Article  PubMed  Google Scholar 

  10. Holmes JC, Hall J (1978) Fusion for instability and potential instability of the cervical spine in children and adolescents. In: Sherk HH, Fielding JW (eds) The upper cervical spine. Orthop Clin North Amer Vol 9/4. Saunders, Philadelpuia, pp 923–943

    Google Scholar 

  11. Moon MS, Kim SS, Lee BJ et al (2010) Radiographic assessment of congenital C2–C3 synostosis. J Orthop Surg 18:143–147

    Google Scholar 

  12. Newton PO, Hahn GW, Fricka KB et al (2002) Utility of three-dimensional and multiplanar reformatted computed tomography for evaluation of pedriatric congenital spine abnormalities. Spine 27:844–850

    Article  PubMed  Google Scholar 

  13. Garbayo AJ, Villas C (1988) Luxación atlas-axis en el síndrome de Down. Rev Ortop Traum 32IB:213–217

    Google Scholar 

  14. Leyes M, Martínez-Peric R, Amillo S et al (1994) Displasia de dygge-melchior-clausen: consideraciones diagnósticas y tratamiento ortopédico. Acta Pediátr Esp 52:100–104

    Google Scholar 

  15. Li XF, Jiang WM, Yang HL et al (2011) Surgical treatment of chronic C1−C2 dislocation with absence od odontoid process using C1 hooks with C2 pedicle screws. Spine 36:E1245–E1249

    Google Scholar 

  16. Reilly CW, Choit RL (2006) Transarticular screws in the management of C1–C2 instability in children. J Pediatr Orthop 26:582–588

    Article  PubMed  Google Scholar 

  17. Yi S, Kim SH, Shin HC et al (2007) Cervical arthroplasty in a patient with Klippel-Feil syndrome. Acta Neurochir 149:805–809

    Article  PubMed  CAS  Google Scholar 

  18. Villas C (1994) Malformations congénitales de l’atlas. Rev Chir Orthop 80:162

    Google Scholar 

  19. Villas C, Vides RE, Yáñez R (1990) Malformaciones congénitas del atlas. Clasificación y repercusión clínica. Rev Med Univ Navarra 34:157–162

    PubMed  CAS  Google Scholar 

  20. Villas C, Alfonso M, Romero LM et al (2010) Long-term outcome of children undergoing Brooks-Jenkins’ technique for atlanto-axial instability or dislocation. Eur Spine J 19:1061

    Google Scholar 

  21. Alfonso M, Villas C, Romero LM et al (2010) C1−C2 luxation in children with down syndrome: long term evolution of two patients treated with C1−C2 fusion. Eur Spine J 19:179

    Article  Google Scholar 

  22. Truex RC, Johnson CH (1978) Congenital abnormalities of the upper cervical spine. In: Sherk HH, Fielding JW (eds) The upper cervical spine. Orthop Clin North Amer Vol 9/4. Saunders, Philadelpuia, pp 891–900

    Google Scholar 

  23. Sherk HH, Parke WW (1983) Developmental anatomy. In: Bailey RW, Sherk HH, Dunn EJ et al (eds) The cervical spine. Chapter 1: anatomy, The Cervical Spine Research Society, Lippincott, London, pp 1–8

    Google Scholar 

  24. Bateman JE (1978) Evolution, embriology, and congenital anomalies. In: The shoulder and neck: chapter 1, Saunders, Philadelphia, pp 1–46

    Google Scholar 

  25. Crockard HA, Stevens JM (1995) Craniovertebral junction anomalies in inherited disorders: part of the syndrome or caused by the disorder? Eur J Pediatr 154:504–512

    Article  PubMed  CAS  Google Scholar 

  26. Stevens JM, Chong WK, Barber C et al (1994) A new appraisal of abnormalities of the odontoid process associated with atlanto-axial subluxation and neurological disability. Brain 117:133–148

    Article  PubMed  Google Scholar 

  27. Arvin B, Fournier-Gosselin MP, Fehlings MG (2010) Os odontoideum: etiology and surgical management. Neurosurgery 66:A22–A31

    Article  Google Scholar 

  28. Weng C, Wang LM, Wang WD et al (2010) Bipartite atlas with os odontoideum and synovial cyst. Spine 35:E568–E575

    Article  PubMed  Google Scholar 

  29. Sherk HH, Nicholson J (1969) Rotatory atlanto-axial dislocation associated with ossiculum terminale and mongolism. J Bone Joint Surg 51A:957–964

    Google Scholar 

  30. Hensinger RN (1983) Congenital anomalies of the atlantoaxial joint. In: Bailey RW, Sherk HH, Dunn EJ et al (eds) The cervical spine. Chapter 5: congenital malformations, The cervical Spine Research Society, Lippincott, London, pp 155–160

    Google Scholar 

  31. Hensinger RN (1983) Congenital anomalies of the odontoid. In: Bailey RW, Sherk HH, Dunn EJ et al (eds) The cervical spine. Chapter 5: congenital malformations, The Cervical Spine Research Society, Lippincott, London, pp 164–174

    Google Scholar 

  32. Hensinger RN, Fielding J, Hawkins RJ (1978) Congenital anomalies of the odontoid process. In: Sherk HH, Fielding JW (eds) The upper cervical spine. Orthop Clin North Amer Vol 9/4. Saunders, Philadelpuia, pp 901–912

    Google Scholar 

  33. Rowland LP, Shapiro JH, Jacobson HG (1958) Neurological syndromes associated with congenital absence of the odontoid process. Arch Neurol Psychiat 60:286–291

    Article  Google Scholar 

  34. Villas C, Arriola F, Vital JM et al (2001) Tratamiento del os odontoideum. Revisión de 18 casos. Rev Ortop Traum 45 (Suppl 1):37–47

    Google Scholar 

  35. Villas C, Vital JM, Denaro E (2001) Treatment of os odontoideum: a multicentric study. Eur Spine J 10(Suppl 1):44

    Google Scholar 

  36. Arriola FJ, Mora G, Villas C (1995) Tratamiento quirúrgico de las anomalias tipo os-odontoideum: a propósito de 7 casos. In: Columna vertebral, Fundación Mapfre Medicina, Madrid, pp 183–197

    Google Scholar 

  37. Garant M, Oudjhanc K, Sinsky A et al (1997) Duplicated odontoid process: plain radiographic and CT appearance of a rare congenital anomaly of the cervical spine. AJNR 18:1719–1720

    PubMed  CAS  Google Scholar 

  38. Dilettoso S, Uccello M, Dilettoso A et al (2012) Duplicated odontoid process and atlas clefts associated to Klippel-Feil syndrome. Spine J 12:449–450

    Article  PubMed  Google Scholar 

  39. Osti M, Philipp H, Meusburger B et al (2006) Os odontoideum with bipartite atlas and segmental instability: case report. Eur Spine J 15(Suppl 5):564–567

    Article  PubMed  Google Scholar 

  40. Arriola FJ, Villas C, Mora G (1998) Espondilolisis primaria del axis. a propósito de tres casos. Acta Pediátr Esp 56:53–57

    Google Scholar 

  41. Hasue M, Kikuchi S, Matsui T et al (1983) Spondylolysis of the axis. Report of four cases. Spine 8:901–906

    Article  PubMed  CAS  Google Scholar 

  42. Matthews LS, Vetter WL, Tolo VT (1982) Cervical anomaly simulating hangman’s fracture in a child. Case report. J Bone Joint Surg 64A:299–300

    Google Scholar 

  43. Smith JT, Skinner SR, Shonnard NH (1993) Persistent synchondrosis of the second cervical vertebra simulating a hangman’s fracture in a child. J Bone Joint Surg 75A:1228–1230

    Google Scholar 

  44. Currarino G (1989) Primary spondylolisthesis of the axis vertebra (C2) in three children, including one with pyknodisostosis. Pediatr Radiol 19:535–538

    Article  PubMed  CAS  Google Scholar 

  45. Epstein NE, Epstein JA, Zilkha A (1984) Traumatic myelopathy in a seventeen-year old child with cervical spinal stenosis (without fracture or dislocation) and a C2–C3 Klippel-Feil fusion. A case report. Spine 9:344–347

    Article  PubMed  CAS  Google Scholar 

  46. Schaffer AA, Kaplan FS, Tracy MR et al (2005) Developmental anomalies of the cervical spine in patients with fibrodysplasia ossificans progressiva are distinctly different from those in patients with Klippel-Feil Syndrome. Clues from the BMP signaling pathway. Spine 30:1379–1385

    Article  PubMed  Google Scholar 

  47. Brarucha EP, Dastur HM (1964) Craniovertebral anomalies (a report of 40 cases). Brain 87:469–482

    Article  Google Scholar 

  48. Wadia NH (1967) Myelopathy complicating congenital atlantoaxial dislocation (a study of 28 cases). Brain 90:449–472

    Article  PubMed  CAS  Google Scholar 

  49. Eck JC, Humphreys SC, Lim TH et al (2002) Biomechanical study on the effect of cervical spine on adjacent level intradiscal pressure and segmental motion. Spine 27:2431–2434

    Article  PubMed  Google Scholar 

  50. Tracy MR, Dormans JP, Kusumi K (2004) Klippel-Feil syndrome: clinical features and current understanding of etilogy. Clin Orthop Rel Res 424:183–190

    Article  Google Scholar 

  51. Frobin W, Leivseth G, Biggemann M et al (2002) Sagittal plane segmental motion of the cervical spine. A new precision measurement protocol. Clin Biomech 17:21–31

    Article  CAS  Google Scholar 

  52. Villas C (1984) Sinostosis cervicales y traumatismos en el esquí. In: Medicina De Montaña. Servicio de Publicaciones del Gobierno Vasco. Vitoria, pp 233–237

    Google Scholar 

  53. Garg A, Gaikwad SB, Gupta V et al (2004) Bipartite atlas with os odontoideum: case report. Spine 29:E224–E228

    Article  Google Scholar 

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Villas, C. (2013). Congenital Malformations. In: Korres, D. (eds) The Axis Vertebra. Springer, Milano. https://doi.org/10.1007/978-88-470-5232-1_14

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  • DOI: https://doi.org/10.1007/978-88-470-5232-1_14

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