{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,23]],"date-time":"2026-09-23T23:37:43Z","timestamp":1790206663980,"version":"4.1.0"},"reference-count":34,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2025,12,1]],"date-time":"2025-12-01T00:00:00Z","timestamp":1764547200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2025,12,9]],"date-time":"2025-12-09T00:00:00Z","timestamp":1765238400000},"content-version":"vor","delay-in-days":8,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Childs Nerv Syst"],"published-print":{"date-parts":[[2025,12]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Purpose<\/jats:title>\n                    <jats:p>This report aims to present a comprehensive case of progressive spinal instability in kyphoscoliotic Ehlers-Danlos syndrome (EDS) and review the surgical management literature to provide insights into treatment strategies for this challenging pediatric population.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Case presentation<\/jats:title>\n                    <jats:p>A female patient with genetically confirmed FKBP14-associated EDS (homozygous c.362dupG p.E122RfsX7 mutation) was followed from infancy through age 10 at a tertiary pediatric center. At 15\u00a0months, rapidly progressive cervical kyphosis with myelopathy necessitated urgent C3 corpectomy with C2\u2013C4 fusion. Progressive early-onset scoliosis required magnetically controlled growing rod placement at age 5. Development of basilar invagination led to occipital-cervical fusion at age 7, followed by growing rod exchange at age 8. Modified fixation techniques accommodating tissue fragility were employed throughout. Nine-year follow-up demonstrated successful deformity control with solid arthrodesis at multiple levels, though ongoing challenges include hardware adaptation and the need for mobility assistance.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>This case demonstrates that while EDS presents progressive challenges requiring reactive surgical interventions, early recognition and timely response to evolving deformities can achieve favorable long-term outcomes. Our experience highlights the importance of regular surveillance to detect new pathology before irreversible complications occur.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1007\/s00381-025-07063-1","type":"journal-article","created":{"date-parts":[[2025,12,9]],"date-time":"2025-12-09T22:34:27Z","timestamp":1765319667000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Surgical management of progressive spinal deformities in FKBP14-associated Ehlers-Danlos syndrome: a case report and literature review"],"prefix":"10.1007","volume":"41","author":[{"given":"Bluy\u00e9","family":"DeMessie","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jason","family":"Yu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shanzeh","family":"Sayied","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Genesis","family":"Liriano","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jacob F.","family":"Schulz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew J.","family":"Kobets","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2025,12,9]]},"reference":[{"key":"7063_CR1","doi-asserted-by":"publisher","first-page":"783","DOI":"10.3171\/2022.6.SPINE211011","volume":"37","author":"N Marathe","year":"2022","unstructured":"Marathe N, Lohkamp LN, Fehlings MG (2022) Spinal manifestations of Ehlers-Danlos syndrome: a scoping review. J Neurosurg Spine 37:783\u2013793","journal-title":"J Neurosurg Spine"},{"key":"7063_CR2","doi-asserted-by":"publisher","DOI":"10.3390\/children7090146","author":"ECH Feldman","year":"2020","unstructured":"Feldman ECH, Hivick DP, Slepian PM, Tran ST, Chopra P, Greenley RN (2020) Pain symptomatology and management in pediatric Ehlers-Danlos syndrome: a review. Children. https:\/\/doi.org\/10.3390\/children7090146","journal-title":"Children"},{"key":"7063_CR3","doi-asserted-by":"publisher","first-page":"1944","DOI":"10.1016\/j.spinee.2022.08.008","volume":"22","author":"G Mao","year":"2022","unstructured":"Mao G, Kopparapu S, Jin Y, Davidar AD, Hersh AM, Weber-Levine C, Theodore N (2022) Craniocervical instability in patients with Ehlers-Danlos syndrome: controversies in diagnosis and management. Spine J 22:1944\u20131952","journal-title":"Spine J"},{"key":"7063_CR4","doi-asserted-by":"publisher","first-page":"261","DOI":"10.1016\/j.jpeds.2016.10.078","volume":"181","author":"CM Stern","year":"2017","unstructured":"Stern CM, Pepin MJ, Stoler JM, Kramer DE, Spencer SA, Stein CJ (2017) Musculoskeletal conditions in a pediatric population with Ehlers-Danlos syndrome. J Pediatr 181:261\u2013266","journal-title":"J Pediatr"},{"key":"7063_CR5","doi-asserted-by":"publisher","first-page":"195","DOI":"10.1002\/ajmg.c.31549","volume":"175","author":"FC Henderson Sr","year":"2017","unstructured":"Henderson FC Sr, Austin C, Benzel E, Bolognese P, Ellenbogen R, Francomano CA, Ireton C, Klinge P, Koby M, Long D, Patel S, Singman EL, Voermans NC (2017) Neurological and spinal manifestations of the Ehlers-Danlos syndromes. Am J Med Genet C Semin Med Genet 175:195\u2013211","journal-title":"Am J Med Genet C Semin Med Genet"},{"key":"7063_CR6","doi-asserted-by":"publisher","first-page":"8","DOI":"10.1002\/ajmg.c.31552","volume":"175","author":"F Malfait","year":"2017","unstructured":"Malfait F, Francomano C, Byers P, Belmont J, Berglund B, Black J, Bloom L, Bowen JM, Brady AF, Burrows NP, Castori M, Cohen H, Colombi M, Demirdas S, De Backer J, De Paepe A, Fournel-Gigleux S, Frank M, Ghali N, Giunta C, Grahame R, Hakim A, Jeunemaitre X, Johnson D, Juul-Kristensen B, Kapferer-Seebacher I, Kazkaz H, Kosho T, Lavallee ME, Levy H, Mendoza-Londono R, Pepin M, Pope FM, Reinstein E, Robert L, Rohrbach M, Sanders L, Sobey GJ, Van Damme T, Vandersteen A, van Mourik C, Voermans N, Wheeldon N, Zschocke J, Tinkle B (2017) The 2017 international classification of the Ehlers-Danlos syndromes. Am J Med Genet C Semin Med Genet 175:8\u201326","journal-title":"Am J Med Genet C Semin Med Genet"},{"key":"7063_CR7","unstructured":"Giunta C, Rohrbach M, Fauth C, Baumann M (1993) FKBP14 Kyphoscoliotic Ehlers-Danlos syndrome. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A (eds) GeneReviews. University of Washington, Seattle, Seattle (WA).\u00a0https:\/\/pubmed.ncbi.nlm.nih.gov\/31132235\/"},{"key":"7063_CR8","doi-asserted-by":"publisher","first-page":"2031","DOI":"10.1002\/ajmg.a.37728","volume":"170","author":"C Dordoni","year":"2016","unstructured":"Dordoni C, Ciaccio C, Venturini M, Calzavara-Pinton P, Ritelli M, Colombi M (2016) Further delineation of FKBP14-related Ehlers-Danlos syndrome: a patient with early vascular complications and non-progressive kyphoscoliosis, and literature review. Am J Med Genet A 170:2031\u20132038","journal-title":"Am J Med Genet A"},{"key":"7063_CR9","doi-asserted-by":"publisher","first-page":"1994","DOI":"10.1002\/humu.24456","volume":"43","author":"M Colman","year":"2022","unstructured":"Colman M, Vroman R, Dhooge T, Malfait Z, Symoens S, Burnyt\u00e9 B, Nampoothiri S, Kariminejad A, Malfait F, Syx D (2022) Kyphoscoliotic Ehlers-Danlos syndrome caused by pathogenic variants in FKBP14: further insights into the phenotypic spectrum and pathogenic mechanisms. Hum Mutat 43:1994\u20132009","journal-title":"Hum Mutat"},{"key":"7063_CR10","doi-asserted-by":"publisher","first-page":"1411","DOI":"10.1007\/s00381-018-3750-9","volume":"34","author":"AJ Kobets","year":"2018","unstructured":"Kobets AJ, Komlos D, Houten JK (2018) Congenital cervical kyphosis in an infant with Ehlers-Danlos syndrome. Childs Nerv Syst 34:1411\u20131415","journal-title":"Childs Nerv Syst"},{"key":"7063_CR11","doi-asserted-by":"publisher","first-page":"201","DOI":"10.1016\/j.ajhg.2011.12.004","volume":"90","author":"M Baumann","year":"2012","unstructured":"Baumann M, Giunta C, Krabichler B, R\u00fcschendorf F, Zoppi N, Colombi M, Bittner RE, Quijano-Roy S, Muntoni F, Cirak S, Schreiber G, Zou Y, Hu Y, Romero NB, Carlier RY, Amberger A, Deutschmann A, Straub V, Rohrbach M, Steinmann B, Rost\u00e1sy K, Karall D, B\u00f6nnemann CG, Zschocke J, Fauth C (2012) Mutations in FKBP14 cause a variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss. Am J Hum Genet 90:201\u2013216","journal-title":"Am J Hum Genet"},{"key":"7063_CR12","doi-asserted-by":"publisher","first-page":"42","DOI":"10.1038\/gim.2017.70","volume":"20","author":"C Giunta","year":"2018","unstructured":"Giunta C, Baumann M, Fauth C, Lindert U, Abdalla EM, Brady AF, Collins J, Dastgir J, Donkervoort S, Ghali N, Johnson DS, Kariminejad A, Koch J, Kraenzlin M, Lahiri N, Lozic B, Manzur AY, Morton JEV, Pilch J, Pollitt RC, Schreiber G, Shannon NL, Sobey G, Vandersteen A, van Dijk FS, Witsch-Baumgartner M, Zschocke J, Pope FM, B\u00f6nnemann CG, Rohrbach M (2018) A cohort of 17 patients with kyphoscoliotic Ehlers-Danlos syndrome caused by biallelic mutations in FKBP14: expansion of the clinical and mutational spectrum and description of the natural history. Genet Med 20:42\u201354","journal-title":"Genet Med"},{"key":"7063_CR13","doi-asserted-by":"publisher","first-page":"317","DOI":"10.1002\/ajmg.a.61006","volume":"179","author":"M Castori","year":"2019","unstructured":"Castori M, Fiorillo C, Agolini E, Sacco M, Minetti C, Novelli A, Guglielmi G, Bertini E (2019) Primary muscle involvement in a 15-year-old girl with the recurrent homozygous c.362dupC variant in FKBP14. Am J Med Genet A 179:317\u2013321","journal-title":"Am J Med Genet A"},{"key":"7063_CR14","doi-asserted-by":"publisher","first-page":"109","DOI":"10.1186\/s13023-014-0109-5","volume":"9","author":"T Wiesmann","year":"2014","unstructured":"Wiesmann T, Castori M, Malfait F, Wulf H (2014) Recommendations for anesthesia and perioperative management in patients with Ehlers-Danlos syndrome(s). Orphanet J Rare Dis 9:109","journal-title":"Orphanet J Rare Dis"},{"key":"7063_CR15","volume-title":"Ehlers-Danlos Syndrome","author":"T Miklovic","year":"2024","unstructured":"Miklovic T, Sieg VC (2024) Ehlers-Danlos Syndrome. StatPearls Publishing, Treasure Island (FL), StatPearls"},{"key":"7063_CR16","doi-asserted-by":"publisher","first-page":"70","DOI":"10.1001\/jamafacial.2017.0793","volume":"20","author":"AW Joseph","year":"2018","unstructured":"Joseph AW, Joseph SS, Francomano CA, Kontis TC (2018) Characteristics, diagnosis, and management of Ehlers-Danlos syndromes: a review. JAMA Facial Plast Surg 20:70\u201375","journal-title":"JAMA Facial Plast Surg"},{"key":"7063_CR17","doi-asserted-by":"publisher","first-page":"1699","DOI":"10.1177\/21925682231151924","volume":"14","author":"J Chi","year":"2024","unstructured":"Chi J, Raso J, Tadepalli V, Labaran L, Oh E, Wang J, Shen FH, Li X (2024) Outcomes following anterior cervical discectomy and fusion in patients with Ehlers-Danlos syndrome. Glob Spine J 14:1699\u20131705","journal-title":"Glob Spine J"},{"key":"7063_CR18","doi-asserted-by":"publisher","first-page":"708","DOI":"10.1111\/j.1651-2227.1998.tb01537.x","volume":"87","author":"P Heim","year":"1998","unstructured":"Heim P, Raghunath M, Meiss L, Heise U, Myllyl\u00e4 R, Kohlsch\u00fctter A, Steinmann B (1998) Ehlers-Danlos syndrome type VI (EDS VI): problems of diagnosis and management. Acta Paediatr 87:708\u2013710","journal-title":"Acta Paediatr"},{"key":"7063_CR19","doi-asserted-by":"publisher","first-page":"64","DOI":"10.1038\/s41572-020-0194-9","volume":"6","author":"F Malfait","year":"2020","unstructured":"Malfait F, Castori M, Francomano CA, Giunta C, Kosho T, Byers PH (2020) The Ehlers-Danlos syndromes. Nat Rev Dis Primers 6:64","journal-title":"Nat Rev Dis Primers"},{"key":"7063_CR20","doi-asserted-by":"publisher","first-page":"429","DOI":"10.36076\/ppj.2020\/23\/429","volume":"23","author":"B Song","year":"2020","unstructured":"Song B, Yeh P, Nguyen D, Ikpeama U, Epstein M, Harrell J (2020) Ehlers-Danlos syndrome: an analysis of the current treatment options. Pain Phys 23:429\u2013438","journal-title":"Pain Phys"},{"key":"7063_CR21","doi-asserted-by":"publisher","first-page":"1936","DOI":"10.1080\/09638288.2023.2216028","volume":"46","author":"M Garreth Brittain","year":"2024","unstructured":"Garreth Brittain M, Flanagan S, Foreman L, Teran-Wodzinski P (2024) Physical therapy interventions in generalized hypermobility spectrum disorder and hypermobile Ehlers-Danlos syndrome: a scoping review. Disabil Rehabil 46:1936\u20131953","journal-title":"Disabil Rehabil"},{"key":"7063_CR22","doi-asserted-by":"publisher","first-page":"2986","DOI":"10.1002\/ajmg.a.62393","volume":"185","author":"G Reychler","year":"2021","unstructured":"Reychler G, De Backer MM, Piraux E, Poncin W, Caty G (2021) Physical therapy treatment of hypermobile Ehlers-Danlos syndrome: a systematic review. Am J Med Genet A 185:2986\u20132994","journal-title":"Am J Med Genet A"},{"key":"7063_CR23","doi-asserted-by":"publisher","first-page":"453","DOI":"10.1002\/ajmg.c.31943","volume":"187","author":"JV Simmonds","year":"2021","unstructured":"Simmonds JV (2021) Advances in assessment of hypermobility-related disorders. Am J Med Genet C Semin Med Genet 187:453\u2013457","journal-title":"Am J Med Genet C Semin Med Genet"},{"key":"7063_CR24","doi-asserted-by":"publisher","first-page":"1500","DOI":"10.2174\/1874325001711011500","volume":"11","author":"SY Ng","year":"2017","unstructured":"Ng SY, Bettany-Saltikov J (2017) Imaging in the diagnosis and monitoring of children with idiopathic scoliosis. Open Orthop J 11:1500\u20131520","journal-title":"Open Orthop J"},{"key":"7063_CR25","doi-asserted-by":"publisher","first-page":"279","DOI":"10.4055\/cios20103","volume":"12","author":"A Homere","year":"2020","unstructured":"Homere A, Bolia IK, Juhan T, Weber AE, Hatch GF (2020) Surgical management of shoulder and knee instability in patients with Ehlers-Danlos syndrome: joint hypermobility syndrome. Clin Orthop Surg 12:279\u2013285","journal-title":"Clin Orthop Surg"},{"key":"7063_CR26","doi-asserted-by":"publisher","first-page":"2155","DOI":"10.1007\/s00381-018-3915-6","volume":"34","author":"CE Mackel","year":"2018","unstructured":"Mackel CE, Jada A, Samdani AF, Stephen JH, Bennett JT, Baaj AA, Hwang SW (2018) A comprehensive review of the diagnosis and management of congenital scoliosis. Childs Nerv Syst 34:2155\u20132171","journal-title":"Childs Nerv Syst"},{"key":"7063_CR27","doi-asserted-by":"publisher","DOI":"10.3390\/jcm13154472","author":"AN Johnson","year":"2024","unstructured":"Johnson AN, Lark RK (2024) Current concepts in the treatment of early onset scoliosis. J Clin Med. https:\/\/doi.org\/10.3390\/jcm13154472","journal-title":"J Clin Med"},{"key":"7063_CR28","doi-asserted-by":"publisher","first-page":"397","DOI":"10.1080\/02688697.2017.1386282","volume":"31","author":"AR Brodbelt","year":"2017","unstructured":"Brodbelt AR, Flint G (2017) Ehlers danlos, complex Chiari and cranio-cervical fixation: how best should we treat patients with hypermobility? Br J Neurosurg 31:397\u2013398","journal-title":"Br J Neurosurg"},{"key":"7063_CR29","doi-asserted-by":"publisher","first-page":"225s","DOI":"10.1016\/j.spinee.2006.09.001","volume":"6","author":"CE Wolfla","year":"2006","unstructured":"Wolfla CE (2006) Anatomical, biomechanical, and practical considerations in posterior occipitocervical instrumentation. Spine J 6:225s\u2013232s","journal-title":"Spine J"},{"key":"7063_CR30","doi-asserted-by":"publisher","first-page":"549","DOI":"10.1227\/NEU.0000000000001340","volume":"79","author":"E Martinez-Del-Campo","year":"2016","unstructured":"Martinez-Del-Campo E, Turner JD, Kalb S, Rangel-Castilla L, Perez-Orribo L, Soriano-Baron H, Theodore N (2016) Occipitocervical fixation: a single surgeon\u2019s experience with 120 patients. Neurosurgery 79:549\u2013560","journal-title":"Neurosurgery"},{"key":"7063_CR31","doi-asserted-by":"publisher","first-page":"1165","DOI":"10.1007\/s00381-008-0603-y","volume":"24","author":"AH Menezes","year":"2008","unstructured":"Menezes AH (2008) Specific entities affecting the craniocervical region: Down\u2019s syndrome. Childs Nerv Syst 24:1165\u20131168","journal-title":"Childs Nerv Syst"},{"key":"7063_CR32","doi-asserted-by":"publisher","first-page":"647","DOI":"10.1177\/2192568219877878","volume":"10","author":"AF Joaquim","year":"2020","unstructured":"Joaquim AF, Osorio JA, Riew KD (2020) Occipitocervical fixation: general considerations and surgical technique. Glob Spine J 10:647\u2013656","journal-title":"Glob Spine J"},{"key":"7063_CR33","doi-asserted-by":"publisher","first-page":"573","DOI":"10.3171\/2012.2.PEDS11371","volume":"9","author":"AH Menezes","year":"2012","unstructured":"Menezes AH (2012) Craniocervical fusions in children. J Neurosurg Pediatr 9:573\u2013585","journal-title":"J Neurosurg Pediatr"},{"key":"7063_CR34","doi-asserted-by":"publisher","first-page":"394","DOI":"10.1177\/1941738112452385","volume":"4","author":"ED Shirley","year":"2012","unstructured":"Shirley ED, Demaio M, Bodurtha J (2012) Ehlers-Danlos syndrome in orthopaedics: etiology, diagnosis, and treatment implications. Sports Health 4:394\u2013403","journal-title":"Sports Health"}],"container-title":["Child's Nervous System"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00381-025-07063-1.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s00381-025-07063-1","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00381-025-07063-1.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,2,11]],"date-time":"2026-02-11T13:17:59Z","timestamp":1770815879000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s00381-025-07063-1"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,12]]},"references-count":34,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2025,12]]}},"alternative-id":["7063"],"URL":"https:\/\/doi.org\/10.1007\/s00381-025-07063-1","relation":{},"ISSN":["0256-7040","1433-0350"],"issn-type":[{"value":"0256-7040","type":"print"},{"value":"1433-0350","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,12]]},"assertion":[{"value":"13 January 2025","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"23 November 2025","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"9 December 2025","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"Approval for the publication of this work was granted by the Albert Einstein College of Medicine IRB, and consent to publish this report was obtained from the patient\u2019s family.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Consent for publication was obtained from the patient\u2019s family.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare no competing interests.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}}],"article-number":"412"}}