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文献詳細

雑誌文献

臨床整形外科54巻1号

2019年01月発行

文献概要

誌上シンポジウム 小児の脊柱変形と脊椎疾患—診断・治療の急所

先天性脊柱変形とその関連症候群—胸郭不全症候群,VATER症候群など

著者: 川上紀明1

所属機関: 1国家公務員共済組合連合会名城病院整形外科・脊椎脊髄センター

ページ範囲:P.25 - P.36

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はじめに

 先天性に生じる椎骨の形態異常は,側弯や後弯など何らかの症状が生じない限り見逃されることがあり,成人後に偶然X線写真で指摘されることも少なくない.このように無症候性に経過したものは,もちろん臨床上治療対象とはならない.その一方で,幼・小児期から側弯や後弯などが悪化し,いろいろな症状を引き起こす病態もある.しかも,幼・小児期から成長に伴って悪化する変形は,早期発見,早期治療が必要であり,手遅れになると日常生活動作(ADL)のみならず,生命予後にも影響を与える場合がある.本稿では,椎骨の先天性奇形により生じ,整形外科医師にとってその特徴を頭に入れておかなければならない疾患群などについて診断と治療法のピットフォールについて述べる.

参考文献

1) Takeda K, Kou I, Kawakami N, et al. Compound Heterozygosity for null mutations and a common hypomorphic risk haplotype in TBX6 causes congenital scoliosis. Hum Mutat. 2017;38:317-23.
2) Winter RB. Congenital Deformities of the Spine. New York:Thieme-Stratton;1983.
3) Winter RB, Moe JH, Wang JF. Congenital kyphosis:its natural history and treatment as observed in a study of one hundred and thirty patients. J Bone Joint Surg Am 1973;55:233-56.
4) Nakajima A, Kawakami N, Imagama S, et al. Three-dimensional analysis of formation failure in congenital scoliosis. Spine 2007;32:562-7.
5) Kawakami N, Tsuji T, Imagama S, et al. Classification of congenital scoliosis and kyphosis:a new approach to the three-dimensional classification for progressive vertebral anomalies requiring operative treatment. Spine 2009;34:1756-65.
6) Kawakami N, Saito T, Kawakami K, et al. “Coupling failure” as the forth category in the classification of congenital spinal deformity. Radiology and Diagnostic Imaging 2018.10.002.
7) McMaster MJ, Ohtsuka K. The Natural history of congenital scoliosis. A study of two hundred and fifty-one patients. J Bone Joint Surg Am 1982;64:1128-47.
8) Castellvi AE, Goldstein LA, Chan DP. Lumbosacral transitional vertebrae and their relationship with lumbar extradural defects. Spine (Phila Pa 1976)1984;9:493-5.
9) Tsou P, M'Yau A, Hodgson AR. Embryogenesis and prenatal development of congenital vertebral anomalies and their classification. Clin Orthop Relat Res 1980;152:211-31.
10) Campbell RM Jr, Smith MD, Mayes TC, et al. The characteristics of thoracic insufficiency syndrome associated with fused ribs and congenital scoliosis. J Bone Joint Surg Am 2003;85:399-408.
11) Al Kaissi A, Ben Chehida F, Safi H, et al. Progressive congenital torticollis in VATER association syndrome. Spine 2006;31:E376-8.
12) van Vendeloo S, Olthof K, Timmerman J, et al. Esophageal rupture in a child after vertical expandable prosthetic titanium rib expansion thoracoplasty first Report of arare complication. Spine 2011;36:E669-E672.
13) Goldenhar M. Association malformatives de l'oeil et de l'oreille, en particulier le syndrome dermoide epibulbaireappendices auriculairesfistula auris congenita et ses rela-tions avec ladysostose mandibulofaciale. J G6n6t Hum 1952;1:243.
14) Anderson PJ, David DJ. Spinal anomalies in Goldenhar syndrome. Cleft Palate Craniofac J 2005;42:477-80.
15) Jarcho S, Levin P. Hereditary malformation of the vertebral bodies. Bull John Hopkins Hosp 1938;62:216-26.
16) Campbell RM, Smith MD, Mayes TC, et al. The characteristics of thoracic insufficiency syndrome associated with fused rib and congenital scoliosis. J Bone Joint Surg Am 2003;85:399-408.
17) Ramirez N, Flynn JM, Emans JB, et al. Vertical expandable prosthetic titanium rib as treatment of thoracic insufficiency syndrome in spondylocostal dysplasia. J Pediatr Orthop 2010;30:521-6.
18) Bulman MP, Kusumi K, Frayling TM, et al. Mutations in the human delta homologue, DLL3, cause axial skeletal defects in spondylocostal dysostosis. Nat Genet 2000;24:438-41.
19) Campbell RM Jr, Smith MD, Hell-Vocke AK. Expansion thoracoplasty:the surgical technique of opening-wedge thoracostomy. Surgical technique. J Bone Joint Surg Am 2004;86:Suppl 1:51-64.
20) Klippel M, Feil A. Un cas d'absence des vertebres cervicales. Nouv Iconogr Salpet 1912;25:223-50.
21) Tassabehji M, Fang ZM, Hilton EN, et al. Mutations in GDF6 are associated with vertebral segmentation defects in Klippel-Feil syndrome. Hum Mutat 2008;29:1017-27.
22) Hensinger RN, Lang JE, MacEwen GD. Klippel-Feil syndrome. A constellation of associated anomalies. J Bone Joint Surg Am 1974;56:1246-53.
23) Winter RB, Moe JH, Lonstein JE. The incidence of Klippel-Feil syndrome in patients with congenital scoliosis and kyphosis. Spine 1984;9:363-6.
24) Xue X, Shen J, Zhang J, et al. Klippel-Feil syndrome in congenital scoliosis. Spine 2014;39:E1353-8.
25) Demirkiran HG, Bekmez S, Celilov R, et al. Serial derotation casting in congenital scoliosis as a time-buying strategy. J Pediatr Orthop 2015;35:43-9.
26) Skaggs DL, Akbarnia BA, Flynn JM, et al. A classification of growth friendly spine implants. J Pediatr Orthop 2014;34:260-74.
27) Ruf M, Harms J. Posterior hemivertebra resection with transpedicular instrumentation:early correction in children aged 1 to 6 years. Spine 2003;28:2132-8.
28) Bollini G, Docquier PL, Viehweger E, et al. Lumbosacral hemivertebrae resection by combined approach:medium- and long-term follow-up. Spine 2006;31:1232-9.
29) 川上紀明,松原祐二,金村徳相・他.先天性後・側弯変形に対する奇形椎摘出—術式と問題点.脊柱変形2003;18:83-9.
30) 川上紀明.先天性側弯症に対する後方固定術.山下敏彦(編著).カラーアトラス 脊椎・脊髄外科.中外医学社;2013,p.128-130.
31) Akbarnia BA, Marks DS, Boachie-Adjei O, et al. Dual growing rod technique for the treatment of progressive early onset scoliosis:a multicenter study. Spine 2005;30:S46-S57.
32) Thompson GH, Akbarnia BA, Campbell RM Jr. Growing rod techniques in early-onset scoliosis. J Pediatr Orthop 2007;27:354-61.
33) McCarthy RER, McCullough FL. Shilla growth guidance for early-onset scoliosis;results after a minimum of five years of follow-up. J Bone Joint Surg Am 2015;97:1578-84.

掲載誌情報

出版社:株式会社医学書院

電子版ISSN:1882-1286

印刷版ISSN:0557-0433

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