{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,19]],"date-time":"2025-10-19T20:42:31Z","timestamp":1760906551733,"version":"build-2065373602"},"reference-count":53,"publisher":"Elsevier BV","issue":"1","license":[{"start":{"date-parts":[[2022,1,1]],"date-time":"2022-01-01T00:00:00Z","timestamp":1640995200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2022,1,1]],"date-time":"2022-01-01T00:00:00Z","timestamp":1640995200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2022,1,1]],"date-time":"2022-01-01T00:00:00Z","timestamp":1640995200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-017"},{"start":{"date-parts":[[2022,1,1]],"date-time":"2022-01-01T00:00:00Z","timestamp":1640995200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-037"},{"start":{"date-parts":[[2022,1,1]],"date-time":"2022-01-01T00:00:00Z","timestamp":1640995200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-012"},{"start":{"date-parts":[[2022,1,1]],"date-time":"2022-01-01T00:00:00Z","timestamp":1640995200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-029"},{"start":{"date-parts":[[2022,1,1]],"date-time":"2022-01-01T00:00:00Z","timestamp":1640995200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-004"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","theclinics.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Neurosurgery Clinics of North America"],"published-print":{"date-parts":[[2022,1]]},"DOI":"10.1016\/j.nec.2022.02.001","type":"journal-article","created":{"date-parts":[[2022,8,6]],"date-time":"2022-08-06T15:00:51Z","timestamp":1659798051000},"page":"e1-e10","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":3,"special_numbering":"S","title":["Dysplasias in the Child\u2019s Spine"],"prefix":"10.1016","volume":"33","author":[{"given":"Jeffrey W.","family":"Campbell","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"issue":"12","key":"10.1016\/j.nec.2022.02.001_bib1","doi-asserted-by":"crossref","first-page":"2393","DOI":"10.1002\/ajmg.a.61366","article-title":"Nosology and classification of genetic skeletal disorders: 2019 revision","volume":"179","author":"Mortier","year":"2019","journal-title":"Am J Med Genet Part A"},{"key":"10.1016\/j.nec.2022.02.001_bib2","doi-asserted-by":"crossref","first-page":"328","DOI":"10.1136\/jmg.23.4.328","article-title":"The birth prevalence rates for the skeletal dysplasias","volume":"23","author":"Orioli","year":"1986","journal-title":"J\u00a0Med Genet"},{"key":"10.1016\/j.nec.2022.02.001_bib3","series-title":"The management of disorders of the child\u2019s cervical spine","first-page":"169","article-title":"Dysplasias in the child\u2019s cervical spine","author":"Bauer","year":"2018"},{"issue":"1","key":"10.1016\/j.nec.2022.02.001_bib4","doi-asserted-by":"crossref","DOI":"10.1186\/s13023-020-01415-7","article-title":"Best practice guidelines for management of spinal disorders in skeletal dysplasia","volume":"15","author":"White","year":"2020","journal-title":"Orphanet J Rare Dis"},{"key":"10.1016\/j.nec.2022.02.001_bib5","unstructured":"Bober MB, Bellus GA, Nikkel SM, et al. Hypochondroplasia. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews\u00ae [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2022."},{"issue":"12","key":"10.1016\/j.nec.2022.02.001_bib6","doi-asserted-by":"crossref","first-page":"3119","DOI":"10.1002\/ajmg.a.35642","article-title":"Neuroimaging and neurological findings in patients with hypochondroplasia and FGFR3 N540K mutation","volume":"158A","author":"Linnankivi","year":"2012","journal-title":"Am J Med Genet Part A"},{"issue":"4","key":"10.1016\/j.nec.2022.02.001_bib7","doi-asserted-by":"crossref","first-page":"427","DOI":"10.1002\/(SICI)1096-8628(19970627)70:4<427::AID-AJMG18>3.0.CO;2-J","article-title":"Long-Term Survival in Typical Thanatophoric Dysplasia Type 1","volume":"70","author":"Baker","year":"1997","journal-title":"Am J Med Genet"},{"issue":"1","key":"10.1016\/j.nec.2022.02.001_bib8","doi-asserted-by":"crossref","first-page":"32","DOI":"10.1089\/pmr.2020.0016","article-title":"Should We Stop Calling Thanatophoric Dysplasia a Lethal Condition? A Case Report of a Long-Term Survivor","volume":"1","author":"Carroll","year":"2020","journal-title":"Palliat Med Rep"},{"issue":"2","key":"10.1016\/j.nec.2022.02.001_bib9","doi-asserted-by":"crossref","first-page":"75","DOI":"10.1002\/ccr3.29","article-title":"Growth and development in thanatophoric dysplasia-an update 25 years later Key Clinical Message","volume":"1","author":"Nikkel","year":"2013","journal-title":"Clin Case Rep"},{"issue":"6","key":"10.1016\/j.nec.2022.02.001_bib10","doi-asserted-by":"crossref","first-page":"E169","DOI":"10.1097\/01.brs.0000202758.61848.61","article-title":"Retrospective study of cervical arthrodesis in patients with various types of skeletal dysplasia","volume":"31","author":"Ain","year":"2006","journal-title":"Spine"},{"issue":"1","key":"10.1016\/j.nec.2022.02.001_bib11","doi-asserted-by":"crossref","DOI":"10.1097\/MD.0000000000013780","article-title":"The management of cervical spine abnormalities in children with spondyloepiphyseal dysplasia congenita: Observational study","volume":"98","author":"al Kaissi","year":"2019","journal-title":"Medicine"},{"issue":"5","key":"10.1016\/j.nec.2022.02.001_bib12","doi-asserted-by":"crossref","DOI":"10.1097\/BRS.0b013e31823b3ded","article-title":"Review of cervical spine anomalies in genetic syndromes","volume":"37","author":"McKay","year":"2012","journal-title":"Spine"},{"issue":"7","key":"10.1016\/j.nec.2022.02.001_bib13","doi-asserted-by":"crossref","first-page":"466","DOI":"10.1097\/BPO.0000000000000702","article-title":"Upper cervical fusion in children with spondyloepiphyseal dysplasia congenita","volume":"37","author":"Serhan Er","year":"2017","journal-title":"J\u00a0Pediatr Orthopaedics"},{"issue":"15","key":"10.1016\/j.nec.2022.02.001_bib14","doi-asserted-by":"crossref","first-page":"E912","DOI":"10.1097\/BRS.0000000000000381","article-title":"Occipitocervical fusion in skeletal dysplasia: A new surgical technique","volume":"39","author":"Sitoula","year":"2014","journal-title":"Spine"},{"issue":"3","key":"10.1016\/j.nec.2022.02.001_bib15","doi-asserted-by":"crossref","first-page":"501","DOI":"10.1016\/S0030-5898(05)70102-4","article-title":"Spinal manifestations of skeletal dysplasias","volume":"30","author":"Kornblum","year":"1999","journal-title":"Orthop Clin North Am"},{"issue":"3","key":"10.1016\/j.nec.2022.02.001_bib16","article-title":"Occipitoatlantal instability in a child with kniest syndrome","volume":"9","author":"Merrill","year":"1989","journal-title":"J\u00a0Pediatr Orthopaedics Part B"},{"issue":"4","key":"10.1016\/j.nec.2022.02.001_bib17","first-page":"5","article-title":"Congenital defect of craniovertebral junction in twins with Kniest dysplasia-case report","volume":"4","author":"Tesiorowski","year":"2006","journal-title":"Ortho & Trauma"},{"key":"10.1016\/j.nec.2022.02.001_bib18","article-title":"Diastrophic Dysplasia","author":"Bonaf\u00e9","year":"2013","journal-title":"GeneReviews\u00ae"},{"issue":"3","key":"10.1016\/j.nec.2022.02.001_bib19","first-page":"1","article-title":"Surgical correction of cervical kyphosis in diastrophic dysplasia with anterior corpectomy, posterior tethering with 360 degree fusion","volume":"25","author":"Heydemann","year":"2020","journal-title":"J\u00a0Neurosurg Pediatr"},{"issue":"1","key":"10.1016\/j.nec.2022.02.001_bib20","doi-asserted-by":"crossref","DOI":"10.1097\/01.brs.0000250103.88392.8e","article-title":"Surgical treatment of cervical kyphosis in Larsen syndrome: Report of 3 cases and review of the literature","volume":"32","author":"Sakaura","year":"2007","journal-title":"Spine"},{"key":"10.1016\/j.nec.2022.02.001_bib21","article-title":"Atelosteogenesis Type III: Long Term survival, prenatal diagnosis, and evidence for dominant transmission","volume":"83","author":"Schultz","year":"1999","journal-title":"J\u00a0Med Genet"},{"issue":"3","key":"10.1016\/j.nec.2022.02.001_bib22","doi-asserted-by":"crossref","first-page":"347","DOI":"10.1097\/01.bpo.0000214923.95314.ad","article-title":"Cervical Spinal Stenosis in Metatropic Dysplasia","volume":"26","author":"Leet","year":"2006","journal-title":"J\u00a0Pediatr Orthop"},{"issue":"3","key":"10.1016\/j.nec.2022.02.001_bib23","doi-asserted-by":"crossref","first-page":"307","DOI":"10.1016\/j.ajhg.2009.01.021","article-title":"Mutations in the Gene Encoding the Calcium-Permeable Ion Channel TRPV4 Produce Spondylometaphyseal Dysplasia, Kozlowski Type and Metatropic Dysplasia","volume":"84","author":"Krakow","year":"2009","journal-title":"Am J Hum Genet"},{"issue":"3","key":"10.1016\/j.nec.2022.02.001_bib24","doi-asserted-by":"crossref","first-page":"347","DOI":"10.1097\/01.bpo.0000214923.95314.ad","article-title":"Cervical spinal stenosis in metatropic dysplasia","volume":"26","author":"Leet","year":"2006","journal-title":"J\u00a0Pediatr Orthop"},{"issue":"3","key":"10.1016\/j.nec.2022.02.001_bib25","doi-asserted-by":"crossref","first-page":"494","DOI":"10.1016\/j.jspd.2018.09.007","article-title":"The Management of Kyphosis in Metatropic Dysplasia","volume":"7","author":"Bauer","year":"2019","journal-title":"Spine Deformity"},{"issue":"4","key":"10.1016\/j.nec.2022.02.001_bib26","first-page":"409","article-title":"Orthopaedic manifestations of pseudoachondroplasia","volume":"13","author":"Weiner","year":"2019","journal-title":"J\u00a0Children\u2019s Orthopaedics"},{"issue":"7","key":"10.1016\/j.nec.2022.02.001_bib27","doi-asserted-by":"crossref","first-page":"782","DOI":"10.1097\/BPO.0b013e3181558c1d","article-title":"Upper Cervical Spine Instability in Pseudoachondroplasia","volume":"27","author":"Shetty","year":"2007","journal-title":"J\u00a0Pediatr Orthop"},{"issue":"5","key":"10.1016\/j.nec.2022.02.001_bib28","doi-asserted-by":"crossref","first-page":"485","DOI":"10.1097\/BPB.0000000000000058","article-title":"Campomelic dysplasia","volume":"23","author":"Jain","year":"2014","journal-title":"J\u00a0Pediatr Orthopaedics B"},{"issue":"12","key":"10.1016\/j.nec.2022.02.001_bib29","doi-asserted-by":"crossref","first-page":"1330","DOI":"10.1097\/00007632-199706150-00010","article-title":"The treatment of progressive kyphoscolisois in camptomelic dysplasia","volume":"22","author":"Thomas","year":"1997","journal-title":"Spine"},{"issue":"6","key":"10.1016\/j.nec.2022.02.001_bib30","doi-asserted-by":"crossref","first-page":"798","DOI":"10.1212\/01.wnl.0000205594.34647.d0","article-title":"MRI of the brain and cervical spinal cord in rhizomelic chondrodysplasia punctata","volume":"66","author":"Bams-Mengerink","year":"2006","journal-title":"Neurology"},{"issue":"9","key":"10.1016\/j.nec.2022.02.001_bib31","doi-asserted-by":"crossref","first-page":"E680","DOI":"10.1097\/BPO.0000000000001014","article-title":"Cervical spine deformities in children with rhizomelic chondrodysplasia punctata","volume":"39","author":"Abousamra","year":"2019","journal-title":"J\u00a0Pediatr Orthop"},{"key":"10.1016\/j.nec.2022.02.001_bib32","doi-asserted-by":"crossref","first-page":"609","DOI":"10.1007\/s00381-012-1694-z","article-title":"Natural history and management of cervical spine disease in chondrodysplasia punctata and coumarin embryopathy","volume":"28","author":"Vogel","year":"2012","journal-title":"Childs Nerv Syst"},{"issue":"174","key":"10.1016\/j.nec.2022.02.001_bib33","first-page":"1","article-title":"The neurology of rhizomelic chondrodysplasia punctata. Orphanet","volume":"8","author":"Bams-Mengerink","year":"2013","journal-title":"Orphanet J Rare Dis"},{"key":"10.1016\/j.nec.2022.02.001_bib34","doi-asserted-by":"crossref","first-page":"124","DOI":"10.1016\/j.jspd.2012.04.006","article-title":"The spine in osteogenesis imperfecta","volume":"1","author":"Lubicky","year":"2012","journal-title":"Spine Deformity"},{"issue":"2","key":"10.1016\/j.nec.2022.02.001_bib35","doi-asserted-by":"crossref","first-page":"100","DOI":"10.5435\/JAAOS-D-15-00169","article-title":"The spine in patients with osteogenesis imperfecta","volume":"25","author":"Wallace","year":"2017","journal-title":"J\u00a0Am Acad Orthopaedic Surgeons"},{"issue":"3","key":"10.1016\/j.nec.2022.02.001_bib36","doi-asserted-by":"crossref","first-page":"174","DOI":"10.1097\/BSD.0b013e3182624b76","article-title":"Surgical treatment of scoliosis in osteogenesis imperfecta with cement-augmented pedicle screw instrumentation","volume":"27","author":"Yilmaz","year":"2014","journal-title":"J\u00a0Spinal Disord Tech"},{"issue":"5","key":"10.1016\/j.nec.2022.02.001_bib37","doi-asserted-by":"crossref","first-page":"1142","DOI":"10.1002\/jbmr.1555","article-title":"Prevalence and natural course of craniocervical junction anomalies during growth in patients with osteogenesis imperfecta","volume":"27","author":"Arponen","year":"2012","journal-title":"J\u00a0Bone Mineral Res"},{"issue":"Suppl 2","key":"10.1016\/j.nec.2022.02.001_bib38","doi-asserted-by":"crossref","first-page":"320","DOI":"10.1007\/s00586-011-1734-5","article-title":"Factors related to surgical outcome after posterior decompression and fusion for craniocervical junction lesions associated with osteogenesis imperfecta","volume":"20","author":"Imagama","year":"2011","journal-title":"Eur Spine J"},{"issue":"3","key":"10.1016\/j.nec.2022.02.001_bib39","doi-asserted-by":"crossref","first-page":"313","DOI":"10.3171\/2014.11.PEDS14113","article-title":"Cranial base pathology in pediatric osteogenesis imperfecta patients treated with bisphosphonates","volume":"15","author":"Arponen","year":"2015","journal-title":"J\u00a0Neurosurg Pediatr"},{"issue":"4","key":"10.1016\/j.nec.2022.02.001_bib40","doi-asserted-by":"crossref","first-page":"354","DOI":"10.3171\/SPI.2008.9.10.354","article-title":"Endoscopic transnasal decompression for management of basilar invagination in osteogenesis imperfecta: Technical note","volume":"9","author":"Hansen","year":"2008","journal-title":"J\u00a0Neurosurg Spine"},{"issue":"6","key":"10.1016\/j.nec.2022.02.001_bib41","first-page":"950","article-title":"Basilar invagination in osteogenesis imperfecta and related osteochondrodysplasias: medical and surgical management","volume":"86","author":"Sawin","year":"1997","journal-title":"J\u00a0Neurosurg"},{"issue":"3","key":"10.1016\/j.nec.2022.02.001_bib42","doi-asserted-by":"crossref","first-page":"212","DOI":"10.4103\/jcvjs.JCVJS_63_18","article-title":"Basilar impression in osteogenesis imperfecta treated with staged halo traction and posterior decompression with short-segment fusion","volume":"9","author":"Cobanoglu","year":"2018","journal-title":"J\u00a0Craniovertebral Junction Spine"},{"key":"10.1016\/j.nec.2022.02.001_bib43","doi-asserted-by":"crossref","first-page":"203","DOI":"10.1007\/s00381-014-2578-1","article-title":"Spinal involvement in mucopolysaccharidoses: a review","volume":"31","author":"Leone","year":"2015","journal-title":"Childs Nerv Syst"},{"issue":"2","key":"10.1016\/j.nec.2022.02.001_bib44","doi-asserted-by":"crossref","first-page":"339","DOI":"10.1007\/s10545-013-9586-2","article-title":"Spinal involvement in mucopolysaccharidosis IVA (morquio-brailsford or morquio A syndrome): presentation, diagnosis and management","volume":"36","author":"Solanki","year":"2013","journal-title":"J\u00a0Inherit Metab Dis"},{"issue":"9","key":"10.1016\/j.nec.2022.02.001_bib45","doi-asserted-by":"crossref","first-page":"1705","DOI":"10.1007\/s00381-018-3823-9","article-title":"Outcomes from 18 years of cervical spine surgery in MPS IVA: a single centre\u2019s experience","volume":"34","author":"Broomfield","year":"2018","journal-title":"Child\u2019s Nervous Syst"},{"issue":"1","key":"10.1016\/j.nec.2022.02.001_bib46","doi-asserted-by":"crossref","first-page":"91","DOI":"10.1097\/BPO.0b013e318279c51f","article-title":"Flexion-extension cervical spine MRI in children with skeletal dysplasia: Is it safe and effective?","volume":"33","author":"MacKenzie","year":"2013","journal-title":"J\u00a0Pediatr Orthopaedics"},{"issue":"24","key":"10.1016\/j.nec.2022.02.001_bib47","doi-asserted-by":"crossref","first-page":"E1443","DOI":"10.1097\/BRS.0000000000002743","article-title":"An evidence-based approach to the management of children with morquio a syndrome presenting with craniocervical pathology","volume":"43","author":"Williams","year":"2018","journal-title":"Spine"},{"issue":"3","key":"10.1016\/j.nec.2022.02.001_bib48","doi-asserted-by":"crossref","first-page":"182","DOI":"10.1097\/BPO.0000000000001720","article-title":"Intraoperative neurological monitoring in lower limb surgery for patients with mucopolysaccharidoses","volume":"41","author":"Georgiadis","year":"2021","journal-title":"J\u00a0Pediatr Orthopaedics"},{"issue":"6","key":"10.1016\/j.nec.2022.02.001_bib49","doi-asserted-by":"crossref","first-page":"608","DOI":"10.3171\/2012.2.PEDS11522","article-title":"Spinal cord infarction remote from maximal compression in a patient with Morquio syndrome","volume":"9","author":"Tong","year":"2012","journal-title":"J\u00a0Neurosurg Pediatr"},{"issue":"1","key":"10.1016\/j.nec.2022.02.001_bib50","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1007\/s12630-014-0247-1","article-title":"Paraplegia after epidural-general anesthesia in a morquio patient with moderate thoracic spinal stenosis","volume":"62","author":"Drummond","year":"2015","journal-title":"Can J Anaesth"},{"key":"10.1016\/j.nec.2022.02.001_bib51","first-page":"59","article-title":"Natural history of Morquio A patient with tracheal obstruction from birth to death","volume":"14","author":"Doherty","year":"2018","journal-title":"Mol Genet Metab Rep"},{"issue":"7","key":"10.1016\/j.nec.2022.02.001_bib52","doi-asserted-by":"crossref","first-page":"1202","DOI":"10.1007\/s00247-020-04946-0","article-title":"Tracheal narrowing in children and adults with mucopolysaccharidosis type IVA: evaluation with computed tomography angiography","volume":"51","author":"Averill","year":"2021","journal-title":"Pediatr Radiol"},{"issue":"4","key":"10.1016\/j.nec.2022.02.001_bib53","doi-asserted-by":"crossref","first-page":"e329","DOI":"10.1016\/j.athoracsur.2016.02.113","article-title":"Surgical Reconstruction for Severe Tracheal Obstruction in Morquio A Syndrome","volume":"102","author":"Pizarro","year":"2016","journal-title":"Ann Thorac Surg"}],"container-title":["Neurosurgery Clinics of North America"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1042368022000031?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1042368022000031?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,19]],"date-time":"2025-10-19T20:03:40Z","timestamp":1760904220000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1042368022000031"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,1]]},"references-count":53,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2022,1]]}},"alternative-id":["S1042368022000031"],"URL":"https:\/\/doi.org\/10.1016\/j.nec.2022.02.001","relation":{},"ISSN":["1042-3680"],"issn-type":[{"type":"print","value":"1042-3680"}],"subject":[],"published":{"date-parts":[[2022,1]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Dysplasias in the Child\u2019s Spine","name":"articletitle","label":"Article Title"},{"value":"Neurosurgery Clinics of North America","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.nec.2022.02.001","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2022 Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}]}}