- Ain MC, Chaichana KL, Schkrohowsky JG: Retrospective study of cervical arthrodesis in patients with various types of skeletal dysplasia. Spine 31:E169–74, 2006
- Aryanpur J, Hurko O, Francomano C, et al: Craniocervical decompression for cervicomedullary compression in pediatric patients with achondroplasia. J Neurosurg 73:375–382, 2009
- Bagley CA, Pindrik JA, Bookland MJ, et al: Cervicomedullary decompression for foramen magnum stenosis in achondroplasia. J Neurosurg 104:166–172, 2006
- 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
- 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
- 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
- Dede O, Thacker MM, Rogers KJ, et al: Upper cervical fusion in children with Morquio syndrome. J Bone Joint Surg Am 95:1228, 2013
- Desnick RJ: Enzyme replacement and enhancement therapies for lysosomal diseases. J Inherit Metab Dis 27:385–410, 2004
- 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
- Gorlin RJ, Cohen MM, Hennekam RC: Syndromes of the Head and Neck, ed 4. Oxford: Oxford University Press, 2001
- Gray PH: A case of osteogenesis imperfecta, associated with dentinogenesis imperfecta, dating from antiquity. Clin Radiol 21:106–108, 1970
- Hecht F: Bes, Aesop and Morgante: reflections of achondroplasia. Clin Genet 37:279–282, 1990
- 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
- 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
- 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
- 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
- King JAJ, Vachhrajani S, Drake JM, et al: Neurosurgical implications of achondroplasia. J Neurosurg Pediatr 4:297–306, 2009
- Marlowe A, Pepin MG, Byers PH: Testing for osteogenesis imperfecta in cases of suspected non-accidental injury. J Med Genet 39:382–386, 2002
- McAllion SJ, Paterson CR: Causes of death in osteogenesis imperfecta. J Clin Pathol 49:627–630, 1996
- McKay SD, Al-Omari A, Tomlinson LA, et a;: Review of cervical spine anomalies in genetic syndromes. Spine 37:E269–E277, 2012
- Menezes AH: Craniocervical fusions in children. J Neurosurg Pediatr 9:573–585, 2012
- Menezes AH: Editorial. Achondroplasia. J Neurosurg Pediatr 4:295–296; discussion 296, 2009
- Menezes AH: Specific entities affecting the craniocervical region. Childs Nerv Syst 24:1169–1172, 2008
- Menezes AH, Vogel TW: Specific entities affecting the craniocervical region: syndromes affecting the craniocervical junction. Childs Nerv Syst 24:1155–1163, 2008
- Miyoshi K, Nakamura K, Haga N, et al: Surgical treatment for atlantoaxial subluxation with myelopathy in spondyloepiphyseal dysplasia congenita. Spine 29:E488–91, 2004
- Ozono K, Namba N, Kubota T, et al: Pediatric aspects of skeletal dysplasia. Pediatr Endocrinol Rev 10 Suppl 1:35–43, 2012
- 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
- Sasaki-Adams D, Kulkarni A, Rutka J, et al: Neurosurgical implications of osteogenesis imperfecta in children. J Neurosurg Pediatr 1:229–236, 2008
- Sawin PD, Menezes AH: Basilar invagination in osteogenesis imperfecta and related osteochondrodysplasias: medical and surgical management. J Neurosurg 86:950–960, 2009
- Schuchman EH, Ge Y, Lai A, et al: Pentosan polysulfate: a novel therapy for the mucopolysaccharidoses. PLoS ONE 8:e54459, 2013
- Sciubba DM, Noggle JC, Marupudi NI, et al: Spinal stenosis surgery in pediatric patients with achondroplasia. J Neurosurg 106:372–378, 2007
- 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
- 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
- Somia N, Verma IM: Gene therapy: trials and tribulations. Nat Rev Genet 1:91–99, 2000
- Ternier J, Joshi SM, Thompson DNP: Image-guided transoral surgery in childhood. Childs Nerv Syst 25:563–568, 2009
- 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
- Yamada H, Nakamura S, Tajima M, Kageyama N: Neurological manifestations of pediatric achondroplasia. J Neurosurg 54:49–57, 1981
- 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
- Brockmeyer D: Advanced atlantoaxial surgery in children, in Brockmeyer D (ed): Advanced Pediatric craniocervical Surgery. New York: Theime 2006, pp 75-92
- Jakóbkiewicz-Banecka J, Piotrowska E, Gabig-Cimińska M, et al.: Substrate reduction therapies for mucopolysaccharidoses. Current Pharmaceutical Biotechnology, 12(11), 1860–1865, 2011
- 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
- Brockmeyer D: Advanced occipitocervical surgery in children, in Brockmeyer D (ed): Advanced Pediatric craniocervical Surgery. New York: Theime 2006, pp 93-108
Please create a free account or log in to read 'References for Metabolic Bone Disease in Children'
Registration is free, quick and easy. Register and complete your profile and get access to the following:
- Full unrestricted access to The ISPN Guide
- Download pages as PDFs for offline viewing
- Create and manage page bookmarks
- Access to new and improved on-page references