{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,6]],"date-time":"2026-02-06T04:20:48Z","timestamp":1770351648100,"version":"3.49.0"},"reference-count":42,"publisher":"Journal of Neurosurgery Publishing Group (JNSPG)","issue":"21","license":[{"start":{"date-parts":[[2023,11,20]],"date-time":"2023-11-20T00:00:00Z","timestamp":1700438400000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2023,11,20]]},"abstract":"<jats:sec>\n                    <jats:title>BACKGROUND<\/jats:title>\n                    <jats:p>Chondrodysplasia punctata (CDP) describes skeletal dysplasia secondary to a variety of genetic underpinnings characterized by cartilaginous stippling from abnormal calcium deposition during endochondral bone formation. Approximately 20%\u201338% of patients with CDP have cervical spine abnormalities, resulting in stenosis and cord compression. However, approaches to management differ among patients.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>OBSERVATIONS<\/jats:title>\n                    <jats:p>The authors present an 18-year-old male with a known history of CDP and cervical kyphosis with worsening paresthesias and increased spasticity. Imaging confirmed dysplastic C4 and C5 vertebra with focal kyphosis, bony retropulsion, spinal cord compression, and myelomalacia. To treat the stenosis and deformity, the patient underwent C4 and C5 vertebrectomies with C3 to C6 anterior fusion with resolution of symptoms.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>LESSONS<\/jats:title>\n                    <jats:p>Despite many CDP patients having cervical deformities with spinal cord compression and associated neurological symptoms, there is a paucity of data on surgical management and outcomes. There are only scattered reports, and most authors recommend initial conservative management because of the high risk of operative morbidity and mortality secondary to comorbidities. When surgery is performed, long-term follow-up is recommended because of the high rates of progression of deformity, requiring subsequent operations. The authors hope that their experience adds to the literature describing the surgical management of cervical deformities in these patients.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.3171\/case23302","type":"journal-article","created":{"date-parts":[[2023,11,20]],"date-time":"2023-11-20T19:23:46Z","timestamp":1700508226000},"source":"Crossref","is-referenced-by-count":0,"title":["Cervical corpectomy in a pediatric patient with chondrodysplasia punctata and C5 dysplasia with spinal cord compression: illustrative case"],"prefix":"10.3171","volume":"6","author":[{"given":"Nirali P","family":"Patel","sequence":"first","affiliation":[{"name":"Department of Neurosurgery, MedStar Georgetown University Hospital, Washington, DC"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mark W","family":"Youngblood","sequence":"additional","affiliation":[{"name":"Division of Pediatric Neurosurgery, Department of Surgery, Ann & Robert H. Lurie Children\u2019s Hospital, Chicago, Illinois"},{"name":"Department of Neurological Surgery, Feinberg School of Medicine, Northwestern University, Chicago, Illinois; and"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Melissa A","family":"LoPresti","sequence":"additional","affiliation":[{"name":"Division of Pediatric Neurosurgery, Department of Surgery, Ann & Robert H. Lurie Children\u2019s Hospital, Chicago, Illinois"},{"name":"Division of Pediatric Neurosurgery, Departments of Neurosurgery & Public Health Sciences, University of Rochester School of Medicine and Dentistry, Rochester, New York"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tord D","family":"Alden","sequence":"additional","affiliation":[{"name":"Division of Pediatric Neurosurgery, Department of Surgery, Ann & Robert H. Lurie Children\u2019s Hospital, Chicago, Illinois"},{"name":"Department of Neurological Surgery, Feinberg School of Medicine, Northwestern University, Chicago, Illinois; and"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1754","reference":[{"issue":"4","key":"b1","series-title":"Clin Dysmorphol","first-page":"229","article-title":"Chondrodysplasia punctata: a clinical diagnostic and radiological review","volume":"17","author":"Irving MD","year":"2008","unstructured":"Irving MD, Chitty LS, Mansour S, Hall CM Chondrodysplasia punctata: a clinical diagnostic and radiological review. Clin Dysmorphol. 2008;17(4):229\u2013241."},{"issue":"18","key":"b2","series-title":"Spine (Phila Pa 1976)","first-page":"1995","article-title":"Spinal deformity in chondrodysplasia punctata","volume":"27","author":"Mason DE","year":"2002","unstructured":"Mason DE, Sanders JO, MacKenzie WG, Nakata Y, Winter R Spinal deformity in chondrodysplasia punctata. Spine (Phila Pa 1976). 2002;27(18):1995\u20132002."},{"issue":"4","key":"b3","series-title":"Childs Nerv Syst","first-page":"609","article-title":"Natural history and management of cervical spine disease in chondrodysplasia punctata and coumarin embryopathy","volume":"28","author":"Vogel TW","year":"2012","unstructured":"Vogel TW, Menezes AH Natural history and management of cervical spine disease in chondrodysplasia punctata and coumarin embryopathy. Childs Nerv Syst. 2012;28(4):609\u2013619."},{"issue":"9","key":"b4","series-title":"J Pediatr Orthop","first-page":"e680","article-title":"Cervical spine deformities in children with rhizomelic chondrodysplasia punctata","volume":"39","author":"Abousamra O","year":"2019","unstructured":"Abousamra O, Kandula V, Duker AL, Rogers KJ, Bober MB, Mackenzie WG Cervical spine deformities in children with rhizomelic chondrodysplasia punctata. J Pediatr Orthop. 2019;39(9):e680-e686."},{"issue":"4","key":"b5","series-title":"Am J Med Genet A","first-page":"332","article-title":"Natural history of rhizomelic chondrodysplasia punctata","volume":"118A","author":"White AL","year":"2003","unstructured":"White AL, Modaff P, Holland-Morris F, Pauli RM Natural history of rhizomelic chondrodysplasia punctata. Am J Med Genet A. 2003;118A(4):332\u2013342."},{"issue":"6","key":"b6","series-title":"Aust Dent J","first-page":"453","article-title":"Binder\u2019s syndrome due to prenatal vitamin K deficiency: a theory of pathogenesis","volume":"37","author":"Howe AM","year":"1992","unstructured":"Howe AM, Webster WS, Lipson AH, Halliday JL, Sheffield LJ Binder\u2019s syndrome due to prenatal vitamin K deficiency: a theory of pathogenesis. Aust Dent J. 1992;37(6):453\u2013460."},{"issue":"1","key":"b7","series-title":"Am J Med","first-page":"122","article-title":"Maternal and fetal sequelae of anticoagulation during pregnancy","volume":"68","author":"Hall JG","year":"1980","unstructured":"Hall JG, Pauli RM, Wilson KM Maternal and fetal sequelae of anticoagulation during pregnancy. Am J Med. 1980;68(1):122\u2013140."},{"issue":"8","key":"b8","series-title":"Prenat Diagn","first-page":"663","article-title":"Chondrodysplasia punctata (CDP) with features of the tibia-metacarpal type and maternal phenytoin treatment during pregnancy","volume":"22","author":"Wester U","year":"2002","unstructured":"Wester U, Brandberg G, Larsson M, L\u00f6nnerholm T, Anner\u00e9n G Chondrodysplasia punctata (CDP) with features of the tibia-metacarpal type and maternal phenytoin treatment during pregnancy. Prenat Diagn. 2002;22(8):663\u2013668."},{"issue":"4","key":"b9","series-title":"J Neurosurg Pediatr","first-page":"378","article-title":"Surgical management of cervical spine deformity in chondrodysplasia punctata","volume":"20","author":"Morota N","year":"2017","unstructured":"Morota N, Ihara S, Ogiwara H, Tamura G Surgical management of cervical spine deformity in chondrodysplasia punctata. J Neurosurg Pediatr. 2017;20(4):378\u2013387."},{"issue":"2","key":"b10","series-title":"Am J Med Genet A","first-page":"148","article-title":"Longterm follow-up in chondrodysplasia punctata, tibia-metacarpal type, demonstrating natural history","volume":"124A","author":"Savarirayan R","year":"2004","unstructured":"Savarirayan R, Boyle RJ, Masel J, Rogers JG, Sheffield LJ Longterm follow-up in chondrodysplasia punctata, tibia-metacarpal type, demonstrating natural history. Am J Med Genet A. 2004;124A(2\n): 148\u2013157."},{"issue":"2","key":"b11","series-title":"Am J Med Genet","first-page":"200","article-title":"Chondrodysplasia punctata, tibia-metacarpal (MT) type","volume":"37","author":"Rittler M","year":"1990","unstructured":"Rittler M, Menger H, Spranger J Chondrodysplasia punctata, tibia-metacarpal (MT) type. Am J Med Genet. 1990;37(2):200\u2013208."},{"issue":"10","key":"b12","series-title":"J Ultrasound Med","first-page":"719","article-title":"Chondrodysplasia punctata, tibial-metacarpal type in a 16 week fetus","volume":"19","author":"Jansen V","year":"2000","unstructured":"Jansen V, Sarafoglou K, Rebarber A, Greco A, Genieser NB, Wallerstein R Chondrodysplasia punctata, tibial-metacarpal type in a 16 week fetus. J Ultrasound Med. 2000;19(10):719\u2013722."},{"issue":"2","key":"b13","series-title":"Radiology","first-page":"399","article-title":"Atlanto-axial dislocation in chondrodysplasia punctata. 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J Pediatr. 1968;72(1):63\u201369."},{"issue":"5","key":"b15","series-title":"Magn Reson Imaging","first-page":"647","article-title":"Cervicothoracic myelopathy in Conradi-Hunermann disease: MRI diagnosis","volume":"8","author":"Goodman P","year":"1990","unstructured":"Goodman P, Dominguez R Cervicothoracic myelopathy in Conradi-Hunermann disease: MRI diagnosis. Magn Reson Imaging. 1990;8(5):647\u2013650."},{"issue":"1","key":"b16","series-title":"Orthop Clin North Am","first-page":"3","article-title":"Heritable disorders in orthopedics","volume":"9","author":"Wynne-Davies R","year":"1978","unstructured":"Wynne-Davies R Heritable disorders in orthopedics. Orthop Clin North Am. 1978;9(1):3\u20139."},{"issue":"6","key":"b17","series-title":"Pediatr Radiol","first-page":"452","article-title":"Brachytelephalangic chondrodysplasia punctata with marked cervical stenosis and cord compression: report of two cases","volume":"32","author":"Herman TE","year":"2002","unstructured":"Herman TE, Lee BC, McAlister WH Brachytelephalangic chondrodysplasia punctata with marked cervical stenosis and cord compression: report of two cases. Pediatr Radiol. 2002;32(6):452\u2013456."},{"issue":"1","key":"b18","series-title":"Am J Med Genet","first-page":"63","article-title":"Cervical stenosis secondary to rhizomelic chondrodysplasia punctata","volume":"99","author":"Khanna AJ","year":"2001","unstructured":"Khanna AJ, Braverman NE, Valle D, Sponseller PD Cervical stenosis secondary to rhizomelic chondrodysplasia punctata. Am J Med Genet. 2001;99(1):63\u201366."},{"issue":"6","key":"b19","series-title":"J Pediatr Orthop B","first-page":"443","article-title":"Cervical spine stenosis in chondrodysplasia punctata","volume":"16","author":"Violas P","year":"2007","unstructured":"Violas P, Fraisse B, Chapuis M, Bracq H Cervical spine stenosis in chondrodysplasia punctata. J Pediatr Orthop B. 2007;16(6\n): 443\u2013445."},{"issue":"6","key":"b20","series-title":"Pediatr Radiol","first-page":"625","article-title":"Severe tracheobronchial stenosis and cervical vertebral subluxation in X-linked recessive chondrodysplasia punctata","volume":"39","author":"Mundinger GS","year":"2009","unstructured":"Mundinger GS, Weiss C, Fishman EK Severe tracheobronchial stenosis and cervical vertebral subluxation in X-linked recessive chondrodysplasia punctata. Pediatr Radiol. 2009;39(6):625\u2013628."},{"issue":"3","key":"b21","series-title":"J Neurosurg","first-page":"212","article-title":"Cervical spinal cord compression in chondrodysplasia punctata. Case illustration","volume":"104","author":"Yang BP","year":"2006","unstructured":"Yang BP, Mindea SA, DiPatri AJ\n \nJr\n. \nCervical spinal cord compression in chondrodysplasia punctata. Case illustration. J Neurosurg. 2006;104(3\n \nsuppl\n):212."},{"issue":"4","key":"b1","series-title":"Clin Dysmorphol","first-page":"229","article-title":"Chondrodysplasia punctata: a clinical diagnostic and radiological review","volume":"17","author":"Irving MD","year":"2008","unstructured":"Irving MD, Chitty LS, Mansour S, Hall CM Chondrodysplasia punctata: a clinical diagnostic and radiological review. Clin Dysmorphol. 2008;17(4):229\u2013241."},{"issue":"18","key":"b2","series-title":"Spine (Phila Pa 1976)","first-page":"1995","article-title":"Spinal deformity in chondrodysplasia punctata","volume":"27","author":"Mason DE","year":"2002","unstructured":"Mason DE, Sanders JO, MacKenzie WG, Nakata Y, Winter R Spinal deformity in chondrodysplasia punctata. Spine (Phila Pa 1976). 2002;27(18):1995\u20132002."},{"issue":"4","key":"b3","series-title":"Childs Nerv Syst","first-page":"609","article-title":"Natural history and management of cervical spine disease in chondrodysplasia punctata and coumarin embryopathy","volume":"28","author":"Vogel TW","year":"2012","unstructured":"Vogel TW, Menezes AH Natural history and management of cervical spine disease in chondrodysplasia punctata and coumarin embryopathy. Childs Nerv Syst. 2012;28(4):609\u2013619."},{"issue":"9","key":"b4","series-title":"J Pediatr Orthop","first-page":"e680","article-title":"Cervical spine deformities in children with rhizomelic chondrodysplasia punctata","volume":"39","author":"Abousamra O","year":"2019","unstructured":"Abousamra O, Kandula V, Duker AL, Rogers KJ, Bober MB, Mackenzie WG Cervical spine deformities in children with rhizomelic chondrodysplasia punctata. J Pediatr Orthop. 2019;39(9):e680-e686."},{"issue":"4","key":"b5","series-title":"Am J Med Genet A","first-page":"332","article-title":"Natural history of rhizomelic chondrodysplasia punctata","volume":"118A","author":"White AL","year":"2003","unstructured":"White AL, Modaff P, Holland-Morris F, Pauli RM Natural history of rhizomelic chondrodysplasia punctata. Am J Med Genet A. 2003;118A(4):332\u2013342."},{"issue":"6","key":"b6","series-title":"Aust Dent J","first-page":"453","article-title":"Binder\u2019s syndrome due to prenatal vitamin K deficiency: a theory of pathogenesis","volume":"37","author":"Howe AM","year":"1992","unstructured":"Howe AM, Webster WS, Lipson AH, Halliday JL, Sheffield LJ Binder\u2019s syndrome due to prenatal vitamin K deficiency: a theory of pathogenesis. Aust Dent J. 1992;37(6):453\u2013460."},{"issue":"1","key":"b7","series-title":"Am J Med","first-page":"122","article-title":"Maternal and fetal sequelae of anticoagulation during pregnancy","volume":"68","author":"Hall JG","year":"1980","unstructured":"Hall JG, Pauli RM, Wilson KM Maternal and fetal sequelae of anticoagulation during pregnancy. Am J Med. 1980;68(1):122\u2013140."},{"issue":"8","key":"b8","series-title":"Prenat Diagn","first-page":"663","article-title":"Chondrodysplasia punctata (CDP) with features of the tibia-metacarpal type and maternal phenytoin treatment during pregnancy","volume":"22","author":"Wester U","year":"2002","unstructured":"Wester U, Brandberg G, Larsson M, L\u00f6nnerholm T, Anner\u00e9n G Chondrodysplasia punctata (CDP) with features of the tibia-metacarpal type and maternal phenytoin treatment during pregnancy. Prenat Diagn. 2002;22(8):663\u2013668."},{"issue":"4","key":"b9","series-title":"J Neurosurg Pediatr","first-page":"378","article-title":"Surgical management of cervical spine deformity in chondrodysplasia punctata","volume":"20","author":"Morota N","year":"2017","unstructured":"Morota N, Ihara S, Ogiwara H, Tamura G Surgical management of cervical spine deformity in chondrodysplasia punctata. J Neurosurg Pediatr. 2017;20(4):378\u2013387."},{"issue":"2","key":"b10","series-title":"Am J Med Genet A","first-page":"148","article-title":"Longterm follow-up in chondrodysplasia punctata, tibia-metacarpal type, demonstrating natural history","volume":"124A","author":"Savarirayan R","year":"2004","unstructured":"Savarirayan R, Boyle RJ, Masel J, Rogers JG, Sheffield LJ Longterm follow-up in chondrodysplasia punctata, tibia-metacarpal type, demonstrating natural history. Am J Med Genet A. 2004;124A(2\n): 148\u2013157."},{"issue":"2","key":"b11","series-title":"Am J Med Genet","first-page":"200","article-title":"Chondrodysplasia punctata, tibia-metacarpal (MT) type","volume":"37","author":"Rittler M","year":"1990","unstructured":"Rittler M, Menger H, Spranger J Chondrodysplasia punctata, tibia-metacarpal (MT) type. Am J Med Genet. 1990;37(2):200\u2013208."},{"issue":"10","key":"b12","series-title":"J Ultrasound Med","first-page":"719","article-title":"Chondrodysplasia punctata, tibial-metacarpal type in a 16 week fetus","volume":"19","author":"Jansen V","year":"2000","unstructured":"Jansen V, Sarafoglou K, Rebarber A, Greco A, Genieser NB, Wallerstein R Chondrodysplasia punctata, tibial-metacarpal type in a 16 week fetus. J Ultrasound Med. 2000;19(10):719\u2013722."},{"issue":"2","key":"b13","series-title":"Radiology","first-page":"399","article-title":"Atlanto-axial dislocation in chondrodysplasia punctata. Report of the findings in two brothers","volume":"102","author":"Afshani E","year":"1972","unstructured":"Afshani E, Girdany BR Atlanto-axial dislocation in chondrodysplasia punctata. Report of the findings in two brothers. Radiology. 1972;102(2):399\u2013401."},{"issue":"1","key":"b14","series-title":"J Pediatr","first-page":"63","article-title":"Conradi\u2019s disease. Chondrodystrophia calcificans congenita, congenital stippled epiphyses","volume":"72","author":"Comings DE","year":"1968","unstructured":"Comings DE, Papazian C, Schoene HR Conradi\u2019s disease. Chondrodystrophia calcificans congenita, congenital stippled epiphyses. J Pediatr. 1968;72(1):63\u201369."},{"issue":"5","key":"b15","series-title":"Magn Reson Imaging","first-page":"647","article-title":"Cervicothoracic myelopathy in Conradi-Hunermann disease: MRI diagnosis","volume":"8","author":"Goodman P","year":"1990","unstructured":"Goodman P, Dominguez R Cervicothoracic myelopathy in Conradi-Hunermann disease: MRI diagnosis. Magn Reson Imaging. 1990;8(5):647\u2013650."},{"issue":"1","key":"b16","series-title":"Orthop Clin North Am","first-page":"3","article-title":"Heritable disorders in orthopedics","volume":"9","author":"Wynne-Davies R","year":"1978","unstructured":"Wynne-Davies R Heritable disorders in orthopedics. Orthop Clin North Am. 1978;9(1):3\u20139."},{"issue":"6","key":"b17","series-title":"Pediatr Radiol","first-page":"452","article-title":"Brachytelephalangic chondrodysplasia punctata with marked cervical stenosis and cord compression: report of two cases","volume":"32","author":"Herman TE","year":"2002","unstructured":"Herman TE, Lee BC, McAlister WH Brachytelephalangic chondrodysplasia punctata with marked cervical stenosis and cord compression: report of two cases. Pediatr Radiol. 2002;32(6):452\u2013456."},{"issue":"1","key":"b18","series-title":"Am J Med Genet","first-page":"63","article-title":"Cervical stenosis secondary to rhizomelic chondrodysplasia punctata","volume":"99","author":"Khanna AJ","year":"2001","unstructured":"Khanna AJ, Braverman NE, Valle D, Sponseller PD Cervical stenosis secondary to rhizomelic chondrodysplasia punctata. Am J Med Genet. 2001;99(1):63\u201366."},{"issue":"6","key":"b19","series-title":"J Pediatr Orthop B","first-page":"443","article-title":"Cervical spine stenosis in chondrodysplasia punctata","volume":"16","author":"Violas P","year":"2007","unstructured":"Violas P, Fraisse B, Chapuis M, Bracq H Cervical spine stenosis in chondrodysplasia punctata. J Pediatr Orthop B. 2007;16(6\n): 443\u2013445."},{"issue":"6","key":"b20","series-title":"Pediatr Radiol","first-page":"625","article-title":"Severe tracheobronchial stenosis and cervical vertebral subluxation in X-linked recessive chondrodysplasia punctata","volume":"39","author":"Mundinger GS","year":"2009","unstructured":"Mundinger GS, Weiss C, Fishman EK Severe tracheobronchial stenosis and cervical vertebral subluxation in X-linked recessive chondrodysplasia punctata. 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