Cite

Copy

Tap on and choose 'Add to Home Screen' to create a shortcut app

Tap on and choose 'Install/Install App' to create a shortcut app

References for Metabolic Bone Disease in Children

This page was last updated on November 25th, 2022

  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 

Your donations keep us going

The ISPN Guide is free to use, but we rely on donations to fund our ongoing work and to maintain more than a thousand pages of information created to disseminate the most up-to-date knowledge in the field of paediatric neurosurgery.

By making a donation to The ISPN Guide you are also indirectly helping the many thousands of children around the world whose treatment depends on well-informed surgeons.

Please consider making a donation today.

Use the app

The ISPN Guide can be used as a standalone app, both on mobile devices and desktop computers. It’s quick and easy to use.

Fully featured

Free registration grants you full access to The Guide and host of featured designed to help further your own education.

Stay updated

The ISPN Guide continues to expand both in breadth and depth. Join our mailing list to stay up-to-date with our progress.