Gutmann DH, Ferner RE, Listernick RH, Korf BR, Wolters PL, Johnson KJ (2017) Neurofibromatosis type 1. Nat Rev Dis Primers 3:17004. https://doi.org/10.1038/nrdp.2017.4

Article  PubMed  Google Scholar 

Barker D, Wright E, Nguyen K, Cannon L, Fain P, Goldgar D, Bishop DT, Carey J, Baty B, Kivlin J et al (1987) Gene for von Recklinghausen neurofibromatosis is in the pericentromeric region of chromosome 17. Science 236:1100–1102. https://doi.org/10.1126/science.3107130

Article  CAS  PubMed  Google Scholar 

Gutmann DH, Wood DL, Collins FS (1991) Identification of the neurofibromatosis type 1 gene product. Proc Natl Acad Sci USA 88:9658–9662. https://doi.org/10.1073/pnas.88.21.9658

Article  CAS  PubMed  PubMed Central  Google Scholar 

Hannan F, Ho I, Tong JJ, Zhu Y, Nurnberg P, Zhong Y (2006) Effect of neurofibromatosis type I mutations on a novel pathway for adenylyl cyclase activation requiring neurofibromin and Ras. Hum Mol Genet 15:1087–1098. https://doi.org/10.1093/hmg/ddl023

Article  CAS  PubMed  Google Scholar 

Ratner N, Miller SJ (2015) A RASopathy gene commonly mutated in cancer: the neurofibromatosis type 1 tumour suppressor. Nat Rev Cancer 15:290–301. https://doi.org/10.1038/nrc3911

Article  CAS  PubMed  PubMed Central  Google Scholar 

Krygowska AA, Castellano E (2018) PI3K: a crucial piece in the RAS signaling puzzle. Cold Spring Harb Perspect Med 8:a031450. https://doi.org/10.1101/cshperspect.a031450

Article  CAS  PubMed  PubMed Central  Google Scholar 

Young H, Hyman S, North K (2002) Neurofibromatosis 1: clinical review and exceptions to the rules. J Child Neurol 17:613–621. https://doi.org/10.1177/088307380201700812. (discussion 627–619, 646–651)

Article  PubMed  Google Scholar 

Delucia TA, Yohay K, Widmann RF (2011) Orthopaedic aspects of neurofibromatosis: update. Curr Opin Pediatr 23:46–52. https://doi.org/10.1097/MOP.0b013e32834230ce

Article  PubMed  Google Scholar 

Kaspiris A, Savvidou OD, Vasiliadis ES, Hadjimichael AC, Melissaridou D, Iliopoulou-Kosmadaki S, Iliopoulos ID, Papadimitriou E, Chronopoulos E (2022) Current aspects on the pathophysiology of bone metabolic defects during progression of scoliosis in neurofibromatosis type 1. J Clin Med 11:444. https://doi.org/10.3390/jcm11020444

Article  CAS  PubMed  PubMed Central  Google Scholar 

Ferner RE, Gutmann DH (2013) Neurofibromatosis type 1 (NF1): diagnosis and management. Handb Clin Neurol 115:939–955. https://doi.org/10.1016/b978-0-444-52902-2.00053-9

Article  PubMed  Google Scholar 

Rezaian SM (1976) The incidence of scoliosis due to neurofibromatosis. Acta Orthop Scand 47:534–539. https://doi.org/10.3109/17453677608988733

Article  CAS  PubMed  Google Scholar 

Park YS, Hyun S (2014) Spinal deformity in neurofibromatosis: classification and management. J Spine 3:2

Google Scholar 

Crawford AH (1989) Pitfalls of spinal deformities associated with neurofibromatosis in children. Clin Orthop Relat Res 245:29–42

Article  Google Scholar 

Jett K, Friedman JM (2010) Clinical and genetic aspects of neurofibromatosis 1. Genet Med 12:1–11. https://doi.org/10.1097/GIM.0b013e3181bf15e3

Article  PubMed  Google Scholar 

Well L, Careddu A, Stark M, Farschtschi S, Bannas P, Adam G, Mautner VF, Salamon J (2021) Phenotyping spinal abnormalities in patients with neurofibromatosis type 1 using whole-body MRI. Sci Rep 11:16889. https://doi.org/10.1038/s41598-021-96310-x

Article  CAS  PubMed  PubMed Central  Google Scholar 

Tauchi R, Kawakami N, Castro MA, Ohara T, Saito T, Morishita K, Yamauchi I (2020) Long-term surgical outcomes after early definitive spinal fusion for early-onset scoliosis with neurofibromatosis type 1 at mean follow-up of 14 years. J Pediatr Orthop 40:42–47. https://doi.org/10.1097/bpo.0000000000001090

Article  PubMed  Google Scholar 

Carbone M, Vittoria F, Del Sal A (2019) Treatment of early-onset scoliosis with growing rods in patients with neurofibromatosis-1. J Pediatr Orthop B 28:278–287. https://doi.org/10.1097/bpb.0000000000000627

Article  PubMed  Google Scholar 

Xu E, Gao R, Jiang H, Lin T, Shao W, Zhou X (2019) Combined halo gravity traction and dual growing rod technique for the treatment of early onset dystrophic scoliosis in neurofibromatosis type 1. World Neurosurg 126:e173–e180. https://doi.org/10.1016/j.wneu.2019.01.290

Article  PubMed  Google Scholar 

Moher D, Liberati A, Tetzlaff J, Altman DG (2009) Preferred reporting items for systematic reviews and meta-analyses: the PRISMA statement. BMJ 339:b2535. https://doi.org/10.1136/bmj.b2535

Article  PubMed  PubMed Central  Google Scholar 

Cai S, Li Z, Qiu G, Shen J, Zhao H, Zhao Y, Wang Y, Zhang J (2020) Posterior only instrumented fusion provides incomplete curve control for early-onset scoliosis in type 1 neurofibromatosis. BMC Pediatr 20:63. https://doi.org/10.1186/s12887-020-1956-y

Article  PubMed  PubMed Central  Google Scholar 

Yao Z, Li H, Zhang X, Li C, Qi X (2018) Incidence and Risk Factors for Instrumentation-related Complications After Scoliosis Surgery in Pediatric Patients With NF-1. Spine (Phila Pa 1976) 43:1719–1724. https://doi.org/10.1097/brs.0000000000002720

Article  PubMed  Google Scholar 

Stang A (2010) Critical evaluation of the Newcastle-Ottawa scale for the assessment of the quality of nonrandomized studies in meta-analyses. Eur J Epidemiol 25:603–605. https://doi.org/10.1007/s10654-010-9491-z

Article  PubMed  Google Scholar 

Team RC (2022) R: a language and environment for statistical computing, Vienna, Austria. https://www.R-project.org/

Halmai V, Domán I, de Jonge T, Illés T (2002) Surgical treatment of spinal deformities associated with neurofibromatosis type 1. Report of 12 cases. J Neurosurg 97:310–316. https://doi.org/10.3171/spi.2002.97.3.0310

Article  PubMed  Google Scholar 

Yonezawa I, Arai Y, Tsuji T, Takahashi M, Kurosawa H (2003) Anterior fusion and posterior correction of severe cervical kyphosis using pedicle screw fixation in a patient with neurofibromatosis: a case report. J Spinal Disord Tech 16:493–496. https://doi.org/10.1097/00024720-200310000-00009

Article  PubMed  Google Scholar 

Tsirikos AI, Ramachandran M, Lee J, Saifuddin A (2004) Assessment of vertebral scalloping in neurofibromatosis type 1 with plain radiography and MRI. Clin Radiol 59:1009–1017. https://doi.org/10.1016/j.crad.2004.04.006

Article  CAS  PubMed  Google Scholar 

Li M, Fang X, Li Y, Ni J, Gu S, Zhu X (2009) Successful use of posterior instrumented spinal fusion alone for scoliosis in 19 patients with neurofibromatosis type-1 followed up for at least 25 months. Arch Orthop Trauma Surg 129:915–921. https://doi.org/10.1007/s00402-008-0696-5

Article  PubMed  Google Scholar 

Koptan W, ElMiligui Y (2010) Surgical correction of severe dystrophic neurofibromatosis scoliosis: an experience of 32 cases. Eur Spine J 19:1569–1575. https://doi.org/10.1007/s00586-010-1464-0

Article  PubMed  PubMed Central  Google Scholar 

Laohacharoensombat W, Wajanavisit W, Woratanarat P (2010) Cervical neurofibromatosis with quadriparesis: management by fibular strut graft. Indian J Orthop 44:95–97. https://doi.org/10.4103/0019-5413.54968

Article  PubMed  PubMed Central  Google Scholar 

Shahcheraghi GH, Tavakoli AR (2010) Corpectomy and circumferential spinal fusion in dystrophic neurofibromatous curves. J Child Orthop 4:203–210. https://doi.org/10.1007/s11832-010-0253-y

Article  PubMed  PubMed Central  Google Scholar 

Ma J, Wu Z, Yang X, Xiao J (2011) Surgical treatment of severe cervical dystrophic kyphosis due to neurofibromatosis Type 1: a review of 8 cases. J Neurosurg Spine 14:93–98. https://doi.org/10.3171/2010.9.Spine091015

Article  PubMed  Google Scholar 

Stoker GE, Lenke LG, Dorward IG (2012) Posterior vertebral column resection for the treatment of dystrophic kyphosis associated with type-1 neurofibromatosis: a case report and review of the literature. Spine (Phila Pa 1976) 37:E1659–E1664. https://doi.org/10.1097/BRS.0b013e3182770aa2

Article  PubMed  Google Scholar 

Wu F, Zhang L, Liu Z, Sun Y, Li F, Wang S, Wei F (2012) Cervical neurofibromatosis with tetraplegia: management by cervical suspensory traction. Spine (Phila Pa 1976) 37:E858–E862. https://doi.org/10.1097/BRS.0b013e31824edd1c

Article  PubMed  Google Scholar 

Kawabata S, Watanabe K, Hosogane N, Ishii K, Nakamura M, Toyama Y, Matsumoto M (2013) Surgical correction of severe cervical kyphosis in patients with neurofibromatosis Type 1. J Neurosurg Spine 18:274–279. https://doi.org/10.3171/2012.11.Spine12417

Article  PubMed  Google Scholar 

Wang Z, Fu C, Leng J, Qu Z, Xu F, Liu Y (2015) Treatment of dystrophic scoliosis in neurofibromatosis Type 1 with one-stage posterior pedicle screw technique. Spine J 15:587–595. https://doi.org/10.1016/j.spinee.2014.10.014

Article  PubMed  Google Scholar 

Helenius IJ, Sponseller PD, Mackenzie W, Odent T, Dormans JP, Asghar J, Rathjen K, Pahys JM, Miyanji F, Hedequist D, Phillips JH (2016) Outcomes of spinal fusion for cervical kyphosis in children with neurofibromatosis. J Bone Joint Surg Am 98:e95. https://doi.org/10.2106/jbjs.16.00096

Article  PubMed