{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,9]],"date-time":"2026-05-09T15:58:18Z","timestamp":1778342298701,"version":"3.51.4"},"reference-count":30,"publisher":"Journal of Neurosurgery Publishing Group (JNSPG)","issue":"4","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2017,10]]},"abstract":"<jats:sec><jats:title>OBJECTIVE<\/jats:title><jats:p>Chondrodysplasia punctata (CDP), a rare skeletal dysplasia, can lead to cervical spine instability and deformity. However, an optimal neurosurgical intervention has yet to be established. Thus, a retrospective study was conducted to assess the efficacy of various surgical interventions for children with CDP.<\/jats:p><\/jats:sec><jats:sec><jats:title>METHODS<\/jats:title><jats:p>The authors retrospectively reviewed 9 cases of CDP in which cervical decompression with or without posterior fusion was performed between April 2007 and May 2016. Patient demographics, preoperative clinical conditions, radiographic findings, surgical procedures, and the postoperative course were analyzed in detail.<\/jats:p><\/jats:sec><jats:sec><jats:title>RESULTS<\/jats:title><jats:p>A total of 12 operations were carried out in 9 patients (8 male, 1 female) during the study period. The patients\u2019 ages at the initial surgery ranged from 2 months to 2 years. Seven of the children had CDPX1, 1 had CDPX2, and 1 had tibia-metacarpal type CDP (CDP-TM). The lesion occurred at the craniovertebral junction (CVJ) in 7 cases and involved a subaxial deformity in 2 cases. The initial surgery was C-1 laminectomy with occipitocervical fusion (OCF) followed by halo external fixation in 5 cases, OCF alone in 1 case, and C-1 laminectomy alone in 3 cases. Three children required additional surgery. In one of these cases, a staged operation was required because the patient\u2019s head was too small to attach a halo ring at the time of the initial procedure (C-1 laminectomy). In another case, OCF was performed 11 months after C-1 laminectomy because of intramedullary signal change on serial MRI, although the child remained asymptomatic. In the third case, additional posterior fusion was performed 17 months after an initial laminectomy and OCF due to newly developed cervical dislocation caudal to the original fusion. This last patient required a third operation 9 months after the second because of deep wound infection. Surgery improved the motor function of all 7 children with CDPX1, but 3 children who had already suffered respiratory failure preoperatively required continued respiratory support. At the time of this report, 7 of the 9 children were alive and in stable condition. One child died due to restrictive respiratory insufficiency, and another died in an accident unrelated to CDP.<\/jats:p><\/jats:sec><jats:sec><jats:title>CONCLUSIONS<\/jats:title><jats:p>Surgical decompression with or without fusion for CVJ and subaxial cervical lesions in infants and toddlers with CDP generally saves lives and increases the likelihood of motor function recovery. However, in this case series the patients\u2019 preoperative condition had a strong effect on postoperative respiratory function. The surgery was not straightforward, and a second operation was required in some cases. Nevertheless, the findings indicate that early surgical intervention for CDP with cervical involvement is feasible, suggesting that the role of neurosurgery should be reevaluated.<\/jats:p><\/jats:sec>","DOI":"10.3171\/2017.5.peds16554","type":"journal-article","created":{"date-parts":[[2017,8,11]],"date-time":"2017-08-11T13:58:37Z","timestamp":1502459917000},"page":"378-387","source":"Crossref","is-referenced-by-count":11,"title":["Surgical management of cervical spine deformity in chondrodysplasia punctata"],"prefix":"10.3171","volume":"20","author":[{"given":"Nobuhito","family":"Morota","sequence":"first","affiliation":[{"name":"Division of Neurosurgery, Tokyo Metropolitan Children\u2019s Medical Center; and"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Satoshi","family":"Ihara","sequence":"additional","affiliation":[{"name":"Division of Neurosurgery, Tokyo Metropolitan Children\u2019s Medical Center; and"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hideki","family":"Ogiwara","sequence":"additional","affiliation":[{"name":"Divison of Neurosurgery, National Center for Child Health and Development, Tokyo, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Goichiro","family":"Tamura","sequence":"additional","affiliation":[{"name":"Division of Neurosurgery, Tokyo Metropolitan Children\u2019s Medical Center; and"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1754","reference":[{"key":"b1","series-title":"Report of the findings in two brothers. Radiology","first-page":"399","article-title":"Atlanto-axial dislocation in chondrodysplasia punctata","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 102:399\u2013401, 1972"},{"key":"b2","series-title":"J Neurosurg","first-page":"36","article-title":"Selection of a rigid internal fixation construct for stabilization at the craniovertebral junction in pediatric patients","volume":"107","author":"Anderson RCE","year":"2007","unstructured":"Anderson RCE, Ragel BT, Mocco J, Bohman LE, Brockmeyer DL: Selection of a rigid internal fixation construct for stabilization at the craniovertebral junction in pediatric patients. J Neurosurg 107:36\u201342, 200717644919"},{"key":"b3","series-title":"Neurology","doi-asserted-by":"publisher","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 AM","year":"2006","unstructured":"Bams-Mengerink AM, Majoie CBLM, Duran M, Wanders RJA, Van Hove J, Scheurer CD, : MRI of the brain and cervical spinal cord in rhizomelic chondrodysplasia punctata. Neurology 66:798\u2013803, 789, 200610.1212\/01.wnl.0000205594.34647.d016567694"},{"key":"b4","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2133.2006.07137.x","article-title":"Chondrodysplasia punctata 1, X-linked","author":"Braverman NE","year":"2014","unstructured":"Braverman NE, Bober M, Brunetti-Pierri N, Oswald GL: Chondrodysplasia punctata 1, X-linked, in Pagon RA, Adam MP, Ardinger HH, et al (eds): GeneReviews. Seattle: University of Washington, 20142030171310.1111\/j.1365-2133.2006.07137.x"},{"key":"b5","series-title":"J Bone Joint Surg Am","doi-asserted-by":"publisher","first-page":"1370","DOI":"10.2106\/00004623-199509000-00013","article-title":"Complications in children managed with immobilization in a halo vest","volume":"77","author":"Dormans JP","year":"1995","unstructured":"Dormans JP, Criscitiello AA, Drummond DS, Davidson RS: Complications in children managed with immobilization in a halo vest. J Bone Joint Surg Am 77:1370\u20131373, 199510.2106\/00004623-199509000-00013"},{"key":"b6","series-title":"Am J Med Genet A","doi-asserted-by":"publisher","first-page":"70","DOI":"10.1002\/ajmg.a.20242","article-title":"Cervical spine stenosis and possible vitamin K deficiency embryopathy in an unusual case of chondrodysplasia punctata and an updated classification system","volume":"122A","author":"Eash DD","year":"2003","unstructured":"Eash DD, Weaver DD, Brunetti-Pierri N: Cervical spine stenosis and possible vitamin K deficiency embryopathy in an unusual case of chondrodysplasia punctata and an updated classification system. Am J Med Genet A 122A:70\u201375, 200310.1002\/ajmg.a.20242"},{"key":"b7","series-title":"Br J Dermatol","first-page":"766","article-title":"Clinical variation in X-linked dominant chondrodysplasia punctata (X-linked dominant ichtyosis)","volume":"154","author":"Feldmeyer L","year":"2006","unstructured":"Feldmeyer L, Mevoarh B, Grzeschik KH, Huber M, Hohl D: Clinical variation in X-linked dominant chondrodysplasia punctata (X-linked dominant ichtyosis). Br J Dermatol 154:766\u2013769, 2006"},{"key":"b8","series-title":"J Neurosurg Spine","doi-asserted-by":"publisher","first-page":"892","DOI":"10.3171\/2015.10.SPINE15537","article-title":"Management of subaxial cervical instability in very young or small-for-age children using a static single-screw anterior cervical plate: indications, results, and long-term follow-up","volume":"24","author":"Garber ST","year":"2016","unstructured":"Garber ST, Brockmeyer DL: Management of subaxial cervical instability in very young or small-for-age children using a static single-screw anterior cervical plate: indications, results, and long-term follow-up. J Neurosurg Spine 24:892\u2013896, 201610.3171\/2015.10.SPINE1553726895532"},{"key":"b9","series-title":"Eur J Pediatr","doi-asserted-by":"publisher","first-page":"327","DOI":"10.1007\/s00431-006-0239-4","article-title":"Brachytelephalangic chondrodysplasia punctata with severe spinal cord compression: report of four new cases","volume":"166","author":"Garnier A","year":"2007","unstructured":"Garnier A, Dauger S, Eurin D, Parisi I, Parenti G, Garel C, : Brachytelephalangic chondrodysplasia punctata with severe spinal cord compression: report of four new cases. Eur J Pediatr 166:327\u2013331, 200710.1007\/s00431-006-0239-416937129"},{"key":"b10","series-title":"Magn Reson Imaging","doi-asserted-by":"publisher","first-page":"647","DOI":"10.1016\/0730-725X(90)90144-Q","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 8:647\u2013650, 199010.1016\/0730-725X(90)90144-Q2082136"},{"key":"b11","series-title":"Pediatr Radiol","doi-asserted-by":"publisher","first-page":"452","DOI":"10.1007\/s00247-001-0638-7","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 BCP, McAlister WH: Brachytelephalangic chondrodysplasia punctata with marked cervical stenosis and cord compression: report of two cases. Pediatr Radiol 32:452\u2013456, 200210.1007\/s00247-001-0638-712029348"},{"key":"b12","series-title":"Clin Dysmorphol","doi-asserted-by":"publisher","first-page":"229","DOI":"10.1097\/MCD.0b013e3282fdcc70","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 17:229\u2013241, 20081897865010.1097\/MCD.0b013e3282fdcc70"},{"key":"b13","series-title":"Pol J Radiol","doi-asserted-by":"publisher","first-page":"57","DOI":"10.12659\/PJR.883947","article-title":"Clinical and radiological pictures of two newborn babies with manifestations of chondrodysplasia punctata and review of available literature","volume":"78","author":"Jurkiewicz E","year":"2013","unstructured":"Jurkiewicz E, Marcinska B, Bothur-Nowacka J, Dobrzanska A: Clinical and radiological pictures of two newborn babies with manifestations of chondrodysplasia punctata and review of available literature. Pol J Radiol 78:57\u201364, 20132380788710.12659\/PJR.883947"},{"key":"b14","series-title":"Am J Med Genet","doi-asserted-by":"publisher","first-page":"63","DOI":"10.1002\/1096-8628(20010215)99:1<63::AID-AJMG1117>3.0.CO;2-9","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 99:63\u201366, 200110.1002\/1096-8628(20010215)99:1<63::AID-AJMG1117>3.0.CO;2-911170096"},{"key":"b15","series-title":"J Pediatr Orthop","doi-asserted-by":"publisher","first-page":"685","DOI":"10.1097\/BPO.0b013e31829e86a9","article-title":"Challenges of spine surgery in patients with chondrodysplasia punctata","volume":"33","author":"Lykissas MG","year":"2013","unstructured":"Lykissas MG, Sturm PF, McClung A, Sucato DJ, Riordan M, Hammerberg KW: Challenges of spine surgery in patients with chondrodysplasia punctata. J Pediatr Orthop 33:685\u2013693, 20132383607110.1097\/BPO.0b013e31829e86a9"},{"key":"b16","series-title":"Arch Pediatr","doi-asserted-by":"publisher","first-page":"176","DOI":"10.1016\/S0929-693X(00)00181-0","article-title":"[X-linked recessive chondrodysplasia punctata. Cytogenetic study and role of molecular biology.]","volume":"8","author":"Malou E","year":"2001","unstructured":"Malou E, Gekas J, Troucelier-Lucas V, Mornet E, Razafimanantsoa L, Cuvelier B, : [X-linked recessive chondrodysplasia punctata. Cytogenetic study and role of molecular biology.] Arch Pediatr 8:176\u2013180, 2001 (Fr)1123245910.1016\/S0929-693X(00)00181-0"},{"key":"b17","series-title":"(Phila Pa 1976)","doi-asserted-by":"publisher","first-page":"1995","DOI":"10.1097\/00007632-200209150-00007","article-title":"Spinal deformity in chondrodysplasia punctata. Spine","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) 27:1995\u20132002, 200210.1097\/00007632-200209150-00007"},{"key":"b18","series-title":"Childs Nerv Syst","doi-asserted-by":"publisher","first-page":"1147","DOI":"10.1007\/s00381-008-0604-x","article-title":"Decision making","volume":"24","author":"Menezes AH","year":"2008","unstructured":"Menezes AH: Decision making. Childs Nerv Syst 24:1147\u20131153, 200810.1007\/s00381-008-0604-x18365212"},{"key":"b19","series-title":"Brain Dev","doi-asserted-by":"publisher","first-page":"508","DOI":"10.1016\/j.braindev.2010.12.001","article-title":"Validity and reliability of Ability for Basic Movement Scale for Children (ABMS-C) in disabled pediatric patients","volume":"33","author":"Miyamura K","year":"2011","unstructured":"Miyamura K, Hashimoto K, Honda M: Validity and reliability of Ability for Basic Movement Scale for Children (ABMS-C) in disabled pediatric patients. Brain Dev 33:508\u2013511, 20112132462010.1016\/j.braindev.2010.12.001"},{"key":"b20","series-title":"Am J Med Genet A","doi-asserted-by":"publisher","first-page":"997","DOI":"10.1002\/ajmg.a.32159","article-title":"Clinical and molecular analysis of arylsulfatase E in patients with brachytelephalangic chondrodysplasia punctata","volume":"146A","author":"Nino M","year":"2008","unstructured":"Nino M, Matos-Miranda C, Maeda M, Chen L, Allanson J, Armour C, : Clinical and molecular analysis of arylsulfatase E in patients with brachytelephalangic chondrodysplasia punctata. Am J Med Genet A 146A:997\u20131008, 200810.1002\/ajmg.a.3215918348268"},{"key":"b21","series-title":"Congenit Anom (Kyoto)","doi-asserted-by":"publisher","first-page":"160","DOI":"10.1111\/cga.12003","article-title":"Prenatal diagnosis of cervical spinal cord compression in chondrodysplasia punctata brachytelephalangic type: a case report and literature review","volume":"53","author":"Ochiai D","year":"2013","unstructured":"Ochiai D, Takamura K, Nishimura G, Ikeda T, Yakubo K, Fukuiya T: Prenatal diagnosis of cervical spinal cord compression in chondrodysplasia punctata brachytelephalangic type: a case report and literature review. Congenit Anom (Kyoto) 53:160\u2013162, 201310.1111\/cga.1200324712475"},{"key":"b22","series-title":"J Neurosurg Pediatr","doi-asserted-by":"publisher","first-page":"87","DOI":"10.3171\/2014.3.PEDS13626","article-title":"Fixation with C-2 laminar screws in occipitocervical or C1-2 constructs in children 5 years of age or younger: a series of 18 patients","volume":"14","author":"Savage JG","year":"2014","unstructured":"Savage JG, Fulkerson DH, Sen AN, Thomas JG, Jea A: Fixation with C-2 laminar screws in occipitocervical or C1-2 constructs in children 5 years of age or younger: a series of 18 patients. J Neurosurg Pediatr 14:87\u201393, 201410.3171\/2014.3.PEDS13626"},{"key":"b23","series-title":"Am J Med Genet A","doi-asserted-by":"publisher","first-page":"148","DOI":"10.1002\/ajmg.a.20383","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 124A:148\u2013157, 200410.1002\/ajmg.a.20383"},{"key":"b24","series-title":"Pediatr Radiol","doi-asserted-by":"publisher","first-page":"497","DOI":"10.1007\/s002470050394","article-title":"Cervical spine abnormalities and instability with myelopathy in warfarin-related chondrodysplasia: 17-year follow-up","volume":"28","author":"Takano H","year":"1998","unstructured":"Takano H, Smith WL, Sato Y, Kao SC: Cervical spine abnormalities and instability with myelopathy in warfarin-related chondrodysplasia: 17-year follow-up. Pediatr Radiol 28:497\u2013499, 199810.1007\/s0024700503949662566"},{"key":"b25","series-title":"J Pediatr Orthop B","doi-asserted-by":"publisher","first-page":"443","DOI":"10.1097\/BPB.0b013e3282f05675","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 16:443\u2013445, 200710.1097\/BPB.0b013e3282f0567517909344"},{"key":"b26","series-title":"Childs Nerv Syst","doi-asserted-by":"publisher","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 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 28:609\u2013619, 20122227440710.1007\/s00381-012-1694-z"},{"key":"b27","series-title":"Am J Med Genet A","doi-asserted-by":"publisher","first-page":"943","DOI":"10.1002\/ajmg.a.33909","article-title":"Nosology and classification of genetic skeletal disorders: 2010 revision","volume":"155A","author":"Warman ML","year":"2011","unstructured":"Warman ML, Cormier-Daire V, Hall C, Krakow D, Lachman R, LeMerrer M, : Nosology and classification of genetic skeletal disorders: 2010 revision. Am J Med Genet A 155A:943\u2013968, 201110.1002\/ajmg.a.3390921438135"},{"key":"b28","series-title":"Am J Med Genet A","doi-asserted-by":"publisher","first-page":"332","DOI":"10.1002\/ajmg.a.20009","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 118A:332\u2013342, 20031268766410.1002\/ajmg.a.20009"},{"issue":"3 Suppl","key":"b29","series-title":"Case illustration. J Neurosurg","first-page":"212","article-title":"Cervical spinal cord compression in chondrodysplasia punctata","volume":"104","author":"Yang BP","year":"2006","unstructured":"Yang BP, Mindea SA, DiPatri AJ Jr: Cervical spinal cord compression in chondrodysplasia punctata. Case illustration. J Neurosurg 104 (3 Suppl):212, 2006"},{"key":"b30","series-title":"J Spinal Disord Tech","doi-asserted-by":"publisher","first-page":"392","DOI":"10.1097\/01.bsd.0000167127.16576.02","article-title":"Atlantoaxial transarticular screw fixation and posterior fusion using ultra-high-molecular-weight polyethylene cable","volume":"18","author":"Yonezawa I","year":"2005","unstructured":"Yonezawa I, Arai Y, Tsuji T, Takahashi M, Kurosawa H: Atlantoaxial transarticular screw fixation and posterior fusion using ultra-high-molecular-weight polyethylene cable. J Spinal Disord Tech 18:392\u2013395, 20051618944810.1097\/01.bsd.0000167127.16576.02"}],"container-title":["Journal of Neurosurgery: Pediatrics"],"original-title":[],"link":[{"URL":"https:\/\/thejns.org\/view\/journals\/j-neurosurg-pediatr\/20\/4\/article-p378.xml","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/thejns.org\/downloadpdf\/journals\/j-neurosurg-pediatr\/20\/4\/article-p378.xml","content-type":"text\/html","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/thejns.org\/downloadpdf\/journals\/j-neurosurg-pediatr\/20\/4\/article-p378.xml","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,4,15]],"date-time":"2023-04-15T13:56:25Z","timestamp":1681566985000},"score":1,"resource":{"primary":{"URL":"https:\/\/thejns.org\/view\/journals\/j-neurosurg-pediatr\/20\/4\/article-p378.xml"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,10]]},"references-count":30,"journal-issue":{"issue":"4"},"URL":"https:\/\/doi.org\/10.3171\/2017.5.peds16554","relation":{},"ISSN":["1933-0707","1933-0715"],"issn-type":[{"value":"1933-0707","type":"print"},{"value":"1933-0715","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,10]]}}}