{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,6]],"date-time":"2026-02-06T04:59:13Z","timestamp":1770353953404,"version":"3.49.0"},"reference-count":40,"publisher":"Journal of Neurosurgery Publishing Group (JNSPG)","issue":"22","license":[{"start":{"date-parts":[[2023,11,27]],"date-time":"2023-11-27T00:00:00Z","timestamp":1701043200000},"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":[[2023,11,27]]},"abstract":"<jats:sec>\n                    <jats:title>BACKGROUND<\/jats:title>\n                    <jats:p>Hajdu-Cheney syndrome (HCS) is an extremely rare genetic disorder characterized by severe osteoporosis, scoliosis, and persistent open cranial sutures (POCSs). Neurological complications include hydrocephalus, Chiari I malformations, and basilar invagination (BI). Surgical intervention in HCS is challenging due to severe osteoporosis, ligamentous laxity, POCSs, and extreme skeletal deformities. Herein, the authors present a case of BI repair in a patient with HCS and POCSs, requiring a novel technique of cranial vault suspension, with long-term follow-up.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>OBSERVATIONS<\/jats:title>\n                    <jats:p>A 20-year-old female with HCS and progressive symptomatic BI, initially managed with posterior fossa decompression and occipital to cervical fusion, subsequently required cranial vault expansion due to symptomatic shifting of her cranium secondary to POCS. This custom construct provided long-term stabilization and neurological improvement over a follow-up duration of 9.5 years. A literature review performed revealed three other cases of surgical intervention for BI in patients with HCS and clinicopathological characteristics of each case was compared to the present illustrative case.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>LESSONS<\/jats:title>\n                    <jats:p>POCSs in patients with BI complicate traditional surgical approaches, necessitating more invasive techniques to secure all mobile cranial parts for optimal outcomes. Using this cranial vault suspension and fusion technique results in lasting neurological improvement and construct stability.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.3171\/case23552","type":"journal-article","created":{"date-parts":[[2023,11,27]],"date-time":"2023-11-27T19:13:25Z","timestamp":1701112405000},"source":"Crossref","is-referenced-by-count":1,"title":["Cranial vault suspension for basilar invagination in patients with open cranial sutures: technique and long-term follow-up. Illustrative case"],"prefix":"10.3171","volume":"6","author":[{"given":"Christopher B","family":"Cutler","sequence":"first","affiliation":[{"name":"Chicago Medical School, Rosalind Franklin University of Medicine and Science, Chicago, Illinois; and"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daphne","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery, Division of Pediatric Neurosurgery, Advocate Lutheran General Hospital, Chicago, Illinois"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John R","family":"Ruge","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery, Division of Pediatric Neurosurgery, Advocate Lutheran General Hospital, Chicago, Illinois"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1754","reference":[{"issue":"8","key":"b1","series-title":"Curr Pain Headache Rep","first-page":"49","article-title":"Basilar invagination, basilar impression, and platybasia: clinical and imaging aspects","volume":"20","author":"Pinter NK","year":"2016","unstructured":"Pinter NK, McVige J, Mechtler L. Basilar invagination, basilar impression, and platybasia: clinical and imaging aspects. Curr Pain Headache Rep. 2016;20(8):49."},{"issue":"3","key":"b2","series-title":"Neurosurgery","first-page":"39","article-title":"Basilar invagination","volume":"66","author":"Smith JS","year":"2010","unstructured":"Smith JS, Shaffrey CI, Abel MF, Menezes AH. Basilar invagination. Neurosurgery. 2010;66(3)(suppl):39\u201347."},{"key":"b3","series-title":"Orphanet J Rare Dis","first-page":"200","article-title":"Hajdu-Cheney syndrome: a review","volume":"9","author":"Canalis E","year":"2014","unstructured":"Canalis E, Zanotti S. Hajdu-Cheney syndrome: a review. Orphanet J Rare Dis. 2014;9:200."},{"issue":"1","key":"b4","series-title":"Br J Surg","first-page":"70","article-title":"Foramen magnum impaction in a case of acro-osteolysis","volume":"64","author":"Williams B","year":"1977","unstructured":"Williams B. Foramen magnum impaction in a case of acro-osteolysis. Br J Surg. 1977;64(1):70\u201373."},{"issue":"10","key":"b5","series-title":"Childs Nerv Syst","first-page":"1155","article-title":"Specific entities affecting the craniocervical region: syndromes affecting the craniocervical junction","volume":"24","author":"Menezes AH","year":"2008","unstructured":"Menezes AH, Vogel TW. Specific entities affecting the craniocervical region: syndromes affecting the craniocervical junction. Childs Nerv Syst. 2008;24(10):1155\u20131163."},{"issue":"8","key":"b6","series-title":"Cureus","first-page":"e17334","article-title":"Operative management of spinal deformity secondary to Hajdu-Cheney syndrome","volume":"13","author":"Falls CJ","year":"2021","unstructured":"Falls CJ, Page PS, Stadler JA. Operative management of spinal deformity secondary to Hajdu-Cheney syndrome. Cureus. 2021;13(8):e17334."},{"issue":"3","key":"b7","series-title":"J Neurosurg Spine","first-page":"281","article-title":"Treatment of basilar invagination by atlantoaxial joint distraction and direct lateral mass fixation","volume":"1","author":"Goel A","year":"2004","unstructured":"Goel A. Treatment of basilar invagination by atlantoaxial joint distraction and direct lateral mass fixation. J Neurosurg Spine. 2004;1(3):281\u2013286."},{"issue":"6","key":"b8","series-title":"J Neurosurg","first-page":"962","article-title":"Basilar invagination: a study based on 190 surgically treated patients","volume":"88","author":"Goel A","year":"1998","unstructured":"Goel A, Bhatjiwale M, Desai K. Basilar invagination: a study based on 190 surgically treated patients. J Neurosurg. 1998;88(6):962\u2013968."},{"issue":"3","key":"b9","series-title":"Eur Spine J","first-page":"403","article-title":"Extreme proximal junctional kyphosis-a complication of delayed lambdoid suture closure in Hajdu-Cheney syndrome: a case report and literature review","volume":"27","author":"Woon CYL","year":"2018","unstructured":"Woon CYL, Mardjetko SM. Extreme proximal junctional kyphosis-a complication of delayed lambdoid suture closure in Hajdu-Cheney syndrome: a case report and literature review. Eur Spine J. 2018;27(3)(suppl 3):403\u2013408."},{"issue":"6","key":"b10","series-title":"J Neurosurg","first-page":"950","article-title":"Basilar invagination in osteogenesis imperfecta and related osteochondrodysplasias: medical and surgical management","volume":"86","author":"Sawin PD","year":"1997","unstructured":"Sawin PD, Menezes AH. Basilar invagination in osteogenesis imperfecta and related osteochondrodysplasias: medical and surgical management. J Neurosurg. 1997;86(6):950\u2013960."},{"key":"b11","series-title":"Am J Roentgenol Radium Ther Nucl Med","first-page":"595","article-title":"Acro-osteolysis","volume":"94","author":"Cheney WD","year":"1965","unstructured":"Cheney WD. Acro-osteolysis. Am J Roentgenol Radium Ther Nucl Med. 1965;94:595\u2013607."},{"issue":"4","key":"b12","series-title":"Am J Med Genet","first-page":"292","article-title":"Hajdu-Cheney syndrome: evolution of phenotype and clinical problems","volume":"100","author":"Brennan AM","year":"2001","unstructured":"Brennan AM, Pauli RM. Hajdu-Cheney syndrome: evolution of phenotype and clinical problems. Am J Med Genet. 2001;100(4):292\u2013310."},{"issue":"10","key":"b13","series-title":"Hum Mutat","first-page":"1114","article-title":"Mutations in NOTCH2 in families with Hajdu-Cheney syndrome","volume":"32","author":"Majewski J","year":"2011","unstructured":"Majewski J, Schwartzentruber JA, Caqueret A,  Mutations in NOTCH2 in families with Hajdu-Cheney syndrome. Hum Mutat. 2011;32(10):1114\u20131117."},{"issue":"4","key":"b14","series-title":"Nat Genet","first-page":"303","article-title":"Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss","volume":"43","author":"Simpson MA","year":"2011","unstructured":"Simpson MA, Irving MD, Asilmaz E,  Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss. 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J Prosthet Dent. 2003;89(2):114\u2013118."},{"issue":"5","key":"b17","series-title":"JAAPA","first-page":"31","article-title":"Spinal reconstruction in Hajdu-Cheney syndrome","volume":"21","author":"Murtagh-Schaffer C","year":"2008","unstructured":"Murtagh-Schaffer C, Moquin RR. Spinal reconstruction in Hajdu-Cheney syndrome. JAAPA. 2008;21(5):31\u201333."},{"issue":"5","key":"b18","series-title":"Joint Bone Spine","first-page":"514","article-title":"Osteoporotic compression fracture revealing Hajdu-Cheney Syndrome","volume":"79","author":"Ornetti P","year":"2012","unstructured":"Ornetti P, Tavernier C. Osteoporotic compression fracture revealing Hajdu-Cheney Syndrome. Joint Bone Spine. 2012;79(5):514\u2013515."},{"issue":"6","key":"b19","series-title":"Cleft Palate Craniofac J","first-page":"645","article-title":"Syndrome of Hajdu-Cheney: three case reports of orofacial interest","volume":"47","author":"Vingerhoedt E","year":"2010","unstructured":"Vingerhoedt E, Bailleul-Forestier I, Fellus P, Schoenaers J, Frijns JP, Carels C. Syndrome of Hajdu-Cheney: three case reports of orofacial interest. Cleft Palate Craniofac J. 2010;47(6):645\u2013653."},{"issue":"6","key":"b20","series-title":"J Neurosurg","first-page":"1441","article-title":"Hajdu-Cheney syndrome and syringomyelia. Case report","volume":"97","author":"Faure A","year":"2002","unstructured":"Faure A, David A, Moussally F,  Hajdu-Cheney syndrome and syringomyelia. Case report. J Neurosurg. 2002;97(6):1441\u20131446."},{"issue":"8","key":"b1","series-title":"Curr Pain Headache Rep","first-page":"49","article-title":"Basilar invagination, basilar impression, and platybasia: clinical and imaging aspects","volume":"20","author":"Pinter NK","year":"2016","unstructured":"Pinter NK, McVige J, Mechtler L. Basilar invagination, basilar impression, and platybasia: clinical and imaging aspects. Curr Pain Headache Rep. 2016;20(8):49."},{"issue":"3","key":"b2","series-title":"Neurosurgery","first-page":"39","article-title":"Basilar invagination","volume":"66","author":"Smith JS","year":"2010","unstructured":"Smith JS, Shaffrey CI, Abel MF, Menezes AH. Basilar invagination. Neurosurgery. 2010;66(3)(suppl):39\u201347."},{"key":"b3","series-title":"Orphanet J Rare Dis","first-page":"200","article-title":"Hajdu-Cheney syndrome: a review","volume":"9","author":"Canalis E","year":"2014","unstructured":"Canalis E, Zanotti S. Hajdu-Cheney syndrome: a review. 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Childs Nerv Syst. 2008;24(10):1155\u20131163."},{"issue":"8","key":"b6","series-title":"Cureus","first-page":"e17334","article-title":"Operative management of spinal deformity secondary to Hajdu-Cheney syndrome","volume":"13","author":"Falls CJ","year":"2021","unstructured":"Falls CJ, Page PS, Stadler JA. Operative management of spinal deformity secondary to Hajdu-Cheney syndrome. Cureus. 2021;13(8):e17334."},{"issue":"3","key":"b7","series-title":"J Neurosurg Spine","first-page":"281","article-title":"Treatment of basilar invagination by atlantoaxial joint distraction and direct lateral mass fixation","volume":"1","author":"Goel A","year":"2004","unstructured":"Goel A. Treatment of basilar invagination by atlantoaxial joint distraction and direct lateral mass fixation. J Neurosurg Spine. 2004;1(3):281\u2013286."},{"issue":"6","key":"b8","series-title":"J Neurosurg","first-page":"962","article-title":"Basilar invagination: a study based on 190 surgically treated patients","volume":"88","author":"Goel A","year":"1998","unstructured":"Goel A, Bhatjiwale M, Desai K. Basilar invagination: a study based on 190 surgically treated patients. J Neurosurg. 1998;88(6):962\u2013968."},{"issue":"3","key":"b9","series-title":"Eur Spine J","first-page":"403","article-title":"Extreme proximal junctional kyphosis-a complication of delayed lambdoid suture closure in Hajdu-Cheney syndrome: a case report and literature review","volume":"27","author":"Woon CYL","year":"2018","unstructured":"Woon CYL, Mardjetko SM. Extreme proximal junctional kyphosis-a complication of delayed lambdoid suture closure in Hajdu-Cheney syndrome: a case report and literature review. Eur Spine J. 2018;27(3)(suppl 3):403\u2013408."},{"issue":"6","key":"b10","series-title":"J Neurosurg","first-page":"950","article-title":"Basilar invagination in osteogenesis imperfecta and related osteochondrodysplasias: medical and surgical management","volume":"86","author":"Sawin PD","year":"1997","unstructured":"Sawin PD, Menezes AH. Basilar invagination in osteogenesis imperfecta and related osteochondrodysplasias: medical and surgical management. J Neurosurg. 1997;86(6):950\u2013960."},{"key":"b11","series-title":"Am J Roentgenol Radium Ther Nucl Med","first-page":"595","article-title":"Acro-osteolysis","volume":"94","author":"Cheney WD","year":"1965","unstructured":"Cheney WD. Acro-osteolysis. Am J Roentgenol Radium Ther Nucl Med. 1965;94:595\u2013607."},{"issue":"4","key":"b12","series-title":"Am J Med Genet","first-page":"292","article-title":"Hajdu-Cheney syndrome: evolution of phenotype and clinical problems","volume":"100","author":"Brennan AM","year":"2001","unstructured":"Brennan AM, Pauli RM. Hajdu-Cheney syndrome: evolution of phenotype and clinical problems. Am J Med Genet. 2001;100(4):292\u2013310."},{"issue":"10","key":"b13","series-title":"Hum Mutat","first-page":"1114","article-title":"Mutations in NOTCH2 in families with Hajdu-Cheney syndrome","volume":"32","author":"Majewski J","year":"2011","unstructured":"Majewski J, Schwartzentruber JA, Caqueret A,  Mutations in NOTCH2 in families with Hajdu-Cheney syndrome. Hum Mutat. 2011;32(10):1114\u20131117."},{"issue":"4","key":"b14","series-title":"Nat Genet","first-page":"303","article-title":"Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss","volume":"43","author":"Simpson MA","year":"2011","unstructured":"Simpson MA, Irving MD, Asilmaz E,  Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss. Nat Genet. 2011;43(4):303\u2013305."},{"issue":"17","key":"b15","series-title":"Int J Environ Res Public Health","first-page":"6174","article-title":"Hajdu-Cheney syndrome: a systematic review of the literature","volume":"17","author":"Cort\u00e9s-Mart\u00edn J","year":"2020","unstructured":"Cort\u00e9s-Mart\u00edn J, D\u00edaz-Rodr\u00edguez L, Piqueras-Sola B, Rodr\u00edguez-Blanque R, Bermejo-Fern\u00e1ndez A, S\u00e1nchez-Garc\u00eda JC. Hajdu-Cheney syndrome: a systematic review of the literature. Int J Environ Res Public Health. 2020;17(17):6174."},{"issue":"2","key":"b16","series-title":"J Prosthet Dent","first-page":"114","article-title":"Occlusal rehabilitation of a patient with hereditary multicentric osteolysis","volume":"89","author":"Liljestr\u00f6m MR","year":"2003","unstructured":"Liljestr\u00f6m MR, N\u00e4rhi TO. Occlusal rehabilitation of a patient with hereditary multicentric osteolysis. J Prosthet Dent. 2003;89(2):114\u2013118."},{"issue":"5","key":"b17","series-title":"JAAPA","first-page":"31","article-title":"Spinal reconstruction in Hajdu-Cheney syndrome","volume":"21","author":"Murtagh-Schaffer C","year":"2008","unstructured":"Murtagh-Schaffer C, Moquin RR. Spinal reconstruction in Hajdu-Cheney syndrome. JAAPA. 2008;21(5):31\u201333."},{"issue":"5","key":"b18","series-title":"Joint Bone Spine","first-page":"514","article-title":"Osteoporotic compression fracture revealing Hajdu-Cheney Syndrome","volume":"79","author":"Ornetti P","year":"2012","unstructured":"Ornetti P, Tavernier C. Osteoporotic compression fracture revealing Hajdu-Cheney Syndrome. Joint Bone Spine. 2012;79(5):514\u2013515."},{"issue":"6","key":"b19","series-title":"Cleft Palate Craniofac J","first-page":"645","article-title":"Syndrome of Hajdu-Cheney: three case reports of orofacial interest","volume":"47","author":"Vingerhoedt E","year":"2010","unstructured":"Vingerhoedt E, Bailleul-Forestier I, Fellus P, Schoenaers J, Frijns JP, Carels C. Syndrome of Hajdu-Cheney: three case reports of orofacial interest. Cleft Palate Craniofac J. 2010;47(6):645\u2013653."},{"issue":"6","key":"b20","series-title":"J Neurosurg","first-page":"1441","article-title":"Hajdu-Cheney syndrome and syringomyelia. 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