References for Metabolic Bone Disease in Children

  1. Ain MC, Chaichana KL, Schkrohowsky JG: Retrospective study of cervical arthrodesis in patients with various types of skeletal dysplasia. Spine 31:E169–74, 2006
  2. Aryanpur J, Hurko O, Francomano C, et al: Craniocervical decompression for cervicomedullary compression in pediatric patients with achondroplasia. J Neurosurg 73:375–382, 2009
  3. Bagley CA, Pindrik JA, Bookland MJ, et al: Cervicomedullary decompression for foramen magnum stenosis in achondroplasia. J Neurosurg 104:166–172, 2006
  4. Barker R, Fareedi S, Thompson D, et al: The use of CT angiography in the preoperative planning of cervical spine surgery in children. Childs Nerv Syst 25:955–959, 2009
  5. Benglis DM, Sandberg DI: Acute neurological deficit after minor trauma in an infant with achondroplasia and cervicomedullary compression. J Neurosurg Pediatr 107:152–155, 2007
  6. Botelho RV, Bittencourt LRA, Rotta JM, et a;: A prospective controlled study of sleep respiratory events in patients with craniovertebral junction malformation. J Neurosurg 99:1004–1009, 2003
  7. Dede O, Thacker MM, Rogers KJ, et al: Upper cervical fusion in children with Morquio syndrome. J Bone Joint Surg Am 95:1228, 2013
  8. Desnick RJ: Enzyme replacement and enhancement therapies for lysosomal diseases. J Inherit Metab Dis 27:385–410, 2004
  9. Drake J, Zeller R, Kulkarni AV, et al: Intraoperative neurophysiological monitoring during complex spinal deformity cases in pediatric patients: methodology, utility, prognostication, and outcome. Childs Nerv Syst 26:523–544, 2010
  10. Gorlin RJ, Cohen MM, Hennekam RC: Syndromes of the Head and Neck, ed 4. Oxford: Oxford University Press, 2001
  11. Gray PH: A case of osteogenesis imperfecta, associated with dentinogenesis imperfecta, dating from antiquity. Clin Radiol 21:106–108, 1970
  12. Hecht F: Bes, Aesop and Morgante: reflections of achondroplasia. Clin Genet 37:279–282, 1990
  13. Heldermon CD, Qin EY, Ohlemiller KK, et al: Disease correction by combined neonatal intracranial AAV and systemic lentiviral gene therapy in Sanfilippo syndrome type B mice. Gene Ther 20:913–921, 2013
  14. Hwang SW, Gressot LV, Chern JJ, et al: Complications of occipital screw placement for occipitocervical fusion in children. J Neurosurg Pediatr 9:586–593, 2012
  15. Hwang SW, Gressot LV, Rangel-Castilla L, et al: Outcomes of instrumented fusion in the pediatric cervical spine. J Neurosurg Spine 17:397–409, 2012
  16. Ibrahim AG, Crockard HA: Basilar impression and osteogenesis imperfecta: a 21-year retrospective review of outcomes in 20 patients. J Neurosurg Spine 7:594–600, 2007
  17. King JAJ, Vachhrajani S, Drake JM, et al: Neurosurgical implications of achondroplasia. J Neurosurg Pediatr 4:297–306, 2009
  18. Marlowe A, Pepin MG, Byers PH: Testing for osteogenesis imperfecta in cases of suspected non-accidental injury. J Med Genet 39:382–386, 2002
  19. McAllion SJ, Paterson CR: Causes of death in osteogenesis imperfecta. J Clin Pathol 49:627–630, 1996
  20. McKay SD, Al-Omari A, Tomlinson LA, et a;: Review of cervical spine anomalies in genetic syndromes. Spine 37:E269–E277, 2012
  21. Menezes AH: Craniocervical fusions in children. J Neurosurg Pediatr 9:573–585, 2012
  22. Menezes AH: Editorial. Achondroplasia. J Neurosurg Pediatr 4:295–296; discussion 296, 2009
  23. Menezes AH: Specific entities affecting the craniocervical region. Childs Nerv Syst 24:1169–1172, 2008
  24. Menezes AH, Vogel TW: Specific entities affecting the craniocervical region: syndromes affecting the craniocervical junction. Childs Nerv Syst 24:1155–1163, 2008
  25. Miyoshi K, Nakamura K, Haga N, et al: Surgical treatment for atlantoaxial subluxation with myelopathy in spondyloepiphyseal dysplasia congenita. Spine 29:E488–91, 2004
  26. Ozono K, Namba N, Kubota T, et al: Pediatric aspects of skeletal dysplasia. Pediatr Endocrinol Rev 10 Suppl 1:35–43, 2012
  27. Sakaura H, Matsuoka T, Iwasaki M, et al: Surgical treatment of cervical kyphosis in Larsen syndrome: report of 3 cases and review of the literature. Spine 32:E39–44, 2007
  28. Sasaki-Adams D, Kulkarni A, Rutka J, et al: Neurosurgical implications of osteogenesis imperfecta in children. J Neurosurg Pediatr 1:229–236, 2008
  29. Sawin PD, Menezes AH: Basilar invagination in osteogenesis imperfecta and related osteochondrodysplasias: medical and surgical management. J Neurosurg 86:950–960, 2009
  30. Schuchman EH, Ge Y, Lai A, et al: Pentosan polysulfate: a novel therapy for the mucopolysaccharidoses. PLoS ONE 8:e54459, 2013
  31. Sciubba DM, Noggle JC, Marupudi NI, et al: Spinal stenosis surgery in pediatric patients with achondroplasia. J Neurosurg 106:372–378, 2007
  32. Solanki GA, Lo WB, Hendriksz CJ: MRI morphometric characterisation of the paediatric cervical spine and spinal cord in children with MPS IVA (Morquio-Brailsford syndrome). J Inherit Metab Dis 36:329–337, 2013
  33. Solanki GA, Martin KW, Theroux MC, et al: Spinal involvement in mucopolysaccharidosis IVA (Morquio-Brailsford or Morquio A syndrome): presentation, diagnosis and management. J Inherit Metab Dis 36:339–355, 2013
  34. Somia N, Verma IM: Gene therapy: trials and tribulations. Nat Rev Genet 1:91–99, 2000
  35. Ternier J, Joshi SM, Thompson DNP: Image-guided transoral surgery in childhood. Childs Nerv Syst 25:563–568, 2009
  36. Vogel TW, Menezes AH: Natural history and management of cervical spine disease in chondrodysplasia punctata and coumarin embryopathy. Childs Nerv Syst 28:609–619, 2012
  37. Yamada H, Nakamura S, Tajima M, Kageyama N: Neurological manifestations of pediatric achondroplasia. J Neurosurg 54:49–57, 1981
  38. Banecka-Majkutewicz Z, Jakóbkiewicz-Banecka J, Gabig-Cimińska M, et al.: Putative biological mechanisms of efficiency of substrate reduction therapies for mucopolysaccharidoses. Archivum Immunologiae et Therapiae Experimentalis, 60(6): 461–468, 2012
  39. Brockmeyer D: Advanced atlantoaxial surgery in children, in Brockmeyer D (ed): Advanced Pediatric craniocervical Surgery. New York: Theime 2006, pp 75-92
  40. Jakóbkiewicz-Banecka J, Piotrowska E, Gabig-Cimińska M, et al.: Substrate reduction therapies for mucopolysaccharidoses. Current Pharmaceutical Biotechnology, 12(11), 1860–1865, 2011
  41. Warman ML, Cormier-Daire V, Hall C, et al.: Nosology and classification of genetic skeletal disorders: 2010 revision. American journal of medical genetics. Part A, 155A(5), pp.943–968, 2011
  42. Brockmeyer D: Advanced occipitocervical surgery in children, in Brockmeyer D (ed): Advanced Pediatric craniocervical Surgery. New York: Theime 2006, pp 93-108