Luo Yanzhong,Zhang Xuejun.Diagnoses and treatments of congenital cervical spinal deformities in children[J].Journal of Clinical Pediatric Surgery,,22():1001-1007.[doi:10.3760/cma.j.cn101785-202307002-001]
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Diagnoses and treatments of congenital cervical spinal deformities in children

Journal of Clinical Pediatric Surgery[ISSN:1671-6353/CN:43-1380/R] volume: 第22卷 Number: 2023 11 Page: 1001-1007 Column: 述评 Date of publication: 2023-11-28
Author(s):
Luo Yanzhong;  Zhang Xuejun
Department of Orthopedics, Affiliated Beijing Children’s Hospital, Capital Medical University, National Center for Children’s Health, Beijing 100045, China
Keywords:
Cervical Vertebrae; Congenital Abnormalities; Surgical Procedures;  Operative; Child
DOI:
10.3760/cma.j.cn101785-202307002-001
Abstract:
Cervical spine deformities are rare and the incidence rate remains low in children.Usually the characteristics of complex etiology and a sporadic onset make it more difficult to systematically classify congenital cervical spine deformities.And it is difficult to fully acquire accurate information about the deformity.And it is also problematic to evaluate the prognosis of deformity development and apply precise follow-up interventions.With greater popularization of molecular biology and genetic diagnosis,a large variety of congenital cervical deformities have been successfully managed.There are still some controversies of proper treatments.This review focused upon the epidemiological features,common etiologies and managements of cervical spine deformities in children.

References:

[1] Raimondi AJ,Choux M,Rocco C.The pediatric spine II:developmental anomalies[M].New York:Springer,1989.
[2] Frikha R.Klippel-Feil syndrome:a review of the literature[J].Clin Dysmorphol,2020,29(1):35-37.DOI:10.1097/MCD.0000000000000301.
[3] Brown MW,Templeton AW,Hodges FJ 3rd.The incidence of acquired and congenital fusions in the cervical spine[J].Am J Roentgenol Radium Ther Nucl Med,1964,92:1255-1259.
[4] Dolen?ek J,Cvetko E,Snoj ?,et al.Complete occipitalization of the atlas with bilateral external auditory canal atresia[J].Surg Radiol Anat,2017,39(9):1053-1059.DOI:10.1007/s00276-017-1826-y.
[5] Natsis K,Lyrtzis C,Totlis T,et al.A morphometric study of the atlas occipitalization and coexisted congenital anomalies of the vertebrae and posterior cranial fossa with neurological importance[J].Surg Radiol Anat,2017,39(1):39-49.DOI:10.1007/s00276-016-1687-9.
[6] Goel A,Kulkarni AG.Mobile and reducible atlantoaxial dislocation in presence of occipitalized atlas:report on treatment of eight cases by direct lateral mass plate and screw fixation[J].Spine (Phila Pa 1976),2004,29(22):E520-E523.DOI:10.1097/01.brs.0000144827.17054.35.
[7] Browd S,Healy LJ,Dobie G,et al.Morphometric and qualitative analysis of congenital occipitocervical instability in children:implications for patients with down syndrome[J].J Neurosurg,2006,105(1 Suppl):50-54.DOI:10.3171/ped.2006.105.1.50.
[8] Chambers AA,Gaskill MF.Midline anterior atlas clefts:CT findings[J].J Comput Assist Tomogr,1992,16(6):868-870.DOI:10.1097/00004728-199211000-00007.
[9] Sagiuchi T,Tachibana S,Sato K,et al.Lhermitte sign during yawning associated with congenital partial aplasia of the posterior arch of the atlas[J].AJNR Am J Neuroradiol,2006,27(2):258-260.
[10] Guille JT,Sherk HH.Congenital osseous anomalies of the upper and lower cervical spine in children[J].J Bone Joint Surg Am,2002,84(2):277-288.DOI:10.2106/00004623-200202000-00017.
[11] Morgan MK,Onofrio BM,Bender CE.Familial os odontoideum.Case report[J].J Neurosurg,1989,70(4):636-639.DOI:10.3171/jns.1989.70.4.0636.
[12] Wang SL,Wang C.Familial dystopic os odontoideum:a report of three cases[J].J Bone Joint Surg Am,2011,93(9):e44.DOI:10.2106/JBJS.J.01018.
[13] 杨森,姜为民.齿突游离小骨研究进展[J].实用骨科杂志,2019,25(9):812-815.DOI:10.13795/j.cnki.sgkz.2019.09.011. Yang S,Jiang WM.Progress in research on free small bones of odontoid process[J].J Pract Orthop,2019,25(9):812-815.DOI:10.13795/j.cnki.sgkz.2019.09.011.
[14] White D,Al-Mahfoudh R.The role of conservative management in incidental os odontoideum[J].World Neurosurg,2016,88:695.e15-695.e17.DOI:10.1016/j.wneu.2015.12.098.
[15] Wilson JR,Dettori JR,Vanalstyne EM,et al.Addressing the challenges and controversies of managing os odontoideum:results of a systematic review[J].Evid Based Spine Care J,2010,1(1):67-74.DOI:10.1055/s-0028-1100896.
[16] 徐韬,买尔旦·买买提,甫拉提·买买提,等.颅底凹陷症的分型及外科治疗[J].中华骨科杂志,2015,35(5):518-526.DOI:10.3760/cma.j.issn.0253-2352.2015.05.009. Xu T,Maimaiti MED,Maimaiti FLT,et al.Classification and surgical treatment of basilar invagination[J].Chin J Orthop,2015,35(5):518-526.DOI:10.3760/cma.j.issn.0253-2352.2015.05.009.
[17] 范涛,侯哲,赵新岗,等.先天性颅底凹陷症的临床分型及手术治疗体会(附103例报告)[J].中华神经外科杂志,2014,30(7):658-662.DOI:10.3760/cma.j.issn.1001-2346.2014.07.004. Fan T,Hou Z,Zhao XG,et al.Classification and surgical treatment strategy of basilar invagination:a report of 103 cases[J].Chin J Neurosurg,2014,30(7):658-662.DOI:10.3760/cma.j.issn.1001-2346.2014.07.004.
[18] Gruber J,Saleh A,Bakhsh W,et al.The prevalence of Klippel-Feil syndrome:a computed tomography-based analysis of 2,917 patients[J].Spine Deform,2018,6(4):448-453.DOI:10.1016/j.jspd.2017.12.002.
[19] 李子全,耿墨钊,赵森,等.Klippel-Feil综合征的临床特征及遗传学分析[J].中国医学科学院学报,2021,43(1):25-31.DOI:10.3881/j.issn.1000-503X.12629. Li ZQ,Geng MZ,Zhao S,et al.Clinical characteristics and genetic analysis of Klippel-Feil syndrome[J].Acta Academiae Medicinae Sinicae,2021,43(1):25-31.DOI:10.3881/j.issn.1000-503X.12629.
[20] Klippel M,Feil A.The classic:a case of absence of cervical vertebrae with the thoracic cage rising to the base of the cranium (cervical thoracic cage)[J].Clin Orthop Relat Res,1975,109:3-8.DOI:10.1097/00003086-197506000-00002.
[21] Tracy MR,Dormans JP,Kusumi K.Klippel-Feil syndrome:clinical features and current understanding of etiology[J].Clin Orthop Relat Res,2004,424:183-190.DOI:10.1097/01.blo.0000130267.49895.20.
[22] Winter RB,Moe JH,Lonstein JE.The incidence of Klippel-Feil syndrome in patients with congenital scoliosis and kyphosis[J].Spine (Phila Pa 1976),1984,9(4):363-366.DOI:10.1097/00007632-198405000-00006.
[23] Litrenta J,Bi AS,Dryer JW.Klippel-Feil syndrome:pathogenesis,diagnosis,and management[J].J Am Acad Orthop Surg,2021,29(22):951-960.DOI:10.5435/JAAOS-D-21-00190.
[24] 邢祎祎,代天怡,杨晓月,等.唐氏综合征产前筛查及诊断研究进展[J].中国生育健康杂志,2022,33(5):499-502.DOI:10.3969/j.issn.1671-878X.2022.05.020. Xing YY,Dai TY,Yang XY,et al.Research advances in prenatal screening and diagnosis of Down syndrome[J].Chin J Reprod Health,2022,33(5):499-502.DOI:10.3969/j.issn.1671-878X.2022.05.020.
[25] Caird MS,Wills BPD,Dormans JP.Down syndrome in children:the role of the orthopaedic surgeon[J].J Am Acad Orthop Surg,2006,14(11):610-619.DOI:10.5435/00124635-200610000-00003.
[26] Brockmeyer D.Down syndrome and craniovertebral instability.Topic review and treatment recommendations[J].Pediatr Neurosurg,1999,31(2):71-77.DOI:10.1159/000028837.
[27] Pizzutillo PD,Herman MJ.Cervical spine issues in Down syndrome[J].J Pediatr Orthop,2005,25(2):253-259.DOI:10.1097/01.bpo.0000154227.77609.90.
[28] Winer N,Kyndt F,Paumier A,et al.Prenatal diagnosis of Larsen syndrome caused by a mutation in the filamin B gene[J].Prenat Diagn,2009,29(2):172-174.DOI:10.1002/pd.2164.
[29] Sakaura H,Matsuoka T,Iwasaki M,et al.Surgical treatment of cervical kyphosis in Larsen syndrome:report of 3 cases and review of the literature[J].Spine (Phila Pa 1976),2007,32(1):E39-E44.DOI:10.1097/01.brs.0000250103.88392.8e.
[30] Remes VM,Marttinen EJ,Poussa MS,et al.Cervical spine in patients with diastrophic dysplasia-radiographic findings in 122 patients[J].Pediatr Radiol,2002,32(9):621-628.DOI:10.1007/s00247-002-0720-9.
[31] Poussa M,Merikanto J,Ry?ppy S,et al.The spine in diastrophic dysplasia[J].Spine (Phila Pa 1976),1991,16(8):881-887.DOI:10.1097/00007632-199108000-00005.
[32] Kobrynski LJ,Sullivan KE.Velocardiofacial syndrome,DiGeorge syndrome:the chromosome 22q11.2 deletion syndromes[J].Lancet,2007,370(9596):1443-1452.DOI:10.1016/S0140-6736(07)61601-8.
[33] Ricchetti ET,States L,Hosalkar HS,et al.Radiographic study of the upper cervical spine in the 22q11.2 deletion syndrome[J].J Bone Joint Surg Am,2004,86(8):1751-1760.DOI:10.2106/00004623-200408000-00020.
[34] 刘蕊蕊,马士凤,刘笑孝,等.1例COMP基因突变所致假性软骨发育不全病例报告[J].天津医科大学学报,2022,28(5):555-559. Liu RR,Ma SF,Liu XX,et al.Pseudochondrodysplasia caused by COMP gene mutation:one case report[J].J Tianjin Med Univ,2022,28(5) 555-559.
[35] 张立,孙宇,张凤山,等.颈椎牵引预矫形结合手术矫形治疗重度颈椎后凸畸形[J].中国脊柱脊髓杂志,2018,28(8):698-704.DOI:10.3969/j.issn.1004-406X.2018.08.05. Zhang L,Sun Y,Zhang FS,et al.Pre-correction with cervical spine traction and surgical correction for the treatment of severe cervical kyphosis[J].Chin J Spine Spinal Cord,2018,28(8):698-704.DOI:10.3969/j.issn.1004-406X.2018.08.05.
[36] 陈欣,孙宇,张凤山,等.重度先天性颈椎后凸畸形的手术治疗策略[J].中华医学杂志,2019,99(29):2270-2275.DOI:10.3760/cma.j.issn.0376-2491.2019.29.005. Chen X,Sun Y,Zhang FS,et al.Surgical treatment of severe congenital cervical kyphosis[J].Natl Med J China,2019,99(29):2270-2275.DOI:10.3760/cma.j.issn.0376-2491.2019.29.005.
[37] Xia T,Sun Y,Wang SB,et al.Vertebral artery variation in patients with congenital cervical scoliosis:an anatomical study based on radiological findings[J].Spine (Phila Pa 1976),2021,46(4):E216-E221.DOI:10.1097/BRS.0000000000003834.
[38] 李浩,李承鑫,张学军,等.3D打印模型辅助后路内固定治疗儿童颈椎畸形[J].中华小儿外科杂志,2015,36(3):192-196.DOI:10.3760/cma.j.issn.0253-3006.2015.03.008. Li H,Li CX,Zhang XJ,et al.Individualized 3-dimensional printing model-assisted posterior screw fixation in the treatment of cervical deformity of children[J].Chin J Pediatr Surg,2015,36(3):192-196.DOI:10.3760/cma.j.issn.0253-3006.2015.03.008.
[39] Li QJ,Yu T,Liu LH,et al.Combined 3D rapid prototyping and computer navigation facilitate surgical treatment of congenital scoliosis:a case report and description of technique[J].Medicine (Baltimore),2018,97(31):e11701.DOI:10.1097/MD.0000000000011701.

Memo

收稿日期:2023-7-3。
基金项目:中央高水平医院临床科研业务费资助(2022-PUMCH-D-004)
通讯作者:张学军,Email:zhang-x-j04@163.com

Last Update: 1900-01-01