复杂寰枕部畸形伴右位心1例报告
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摘要
<正>寰枕部畸形主要是指枕骨底部及第1、2颈椎先天发育异常并伴有神经系统和软组织发育异常的一种先天性畸形疾病,包括扁平颅底、颅底凹陷、寰椎融合、颈椎分节不全(Klippel-Feil综合征)、寰枢椎脱位(Arnold-Chiari畸形)等多种多样的畸形,如果同时存在两种以上的畸形则称为复杂寰枕部畸形[1]。据美国国家卫生研究院(NIH)统
引文
1.Tubbs RS,Iii JC 3rd,Oakes WJ,et al.Reformation of the posterior atlanto-occipital membrane following posterior fossa decompression with subsequent constriction at the craniocervical junction[J].Pediatr Neurosurg,2003,38(4):219-221.
2.Labuda R,Loth F,Slavin K,et al.National Institutes of Health Chiari Research Conference:state of the research and new directions[J].Neurol Res,2011,33(3):227-231.
3.Rapoport Y,Fox C,Khade P,et al.Perioperative implications and management of dextrocardia[J].J Anesth,2015,29(5):769-785.
4.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.
5.Nagib MG,Maxwell RE,Chou SN.Identification and management of high-risk patients with Klippel-Feil syndrome[J].JNeurosurg,1984,61(3):523-530.
6.Vaidyanathan S,Hughes PL,Soni BM.Klippel-Feil syndrome-the risk of cervical spinal cord injury:a case report[J].BMC Fam Pract,2002,3:6.
7.庞晓林,邵燕斌,杨永涛,等.Klippel-Feil综合征患者行法洛四联症根治术麻醉一例[J].临床麻醉学杂志,2012,28(7):720-721.
8.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.
9.曹广如,廖文波,王霞,等.Klippel-Feil综合征颈椎后凸畸形的手术治疗[J].中国脊柱脊髓杂志,2013,23(2):185-186.
10.Bejjani GK.Definition of the adult Chiari malformation:a brief historical overview[J].Neurosurg Focus,2001,11(1):E1.
11.Arnautovic A,Splavski B,Boop FA,et al.Pediatric and adult Chiari malformation type I surgical series 1965-2013:a review of demographics,operative treatment,and outcomes[J].J Neurosurg Pediatr,2015,15(2):161-177.
12.Williams B,Fahy G.A critical appraisal of"terminal ventriculostomy"for the treatment of syringomyelia[J].J Neurosurg,1983,58(2):188.
13.Dyste GN,Menezes AH,Vangilder JC.Symptomatic Chiari malformations[J].J Neurosurg,1989,71(2):159-168.
14.Ramnarayan R,Praharaj MS,Jayakumar PN.Chiari 1 malformations:an Indian hospital experience[J].Singapore Med J,2008,49(12):1029-34.
15.Jia C,Li HW,Wu JR,et al.Comparison decompression by duraplasty or cerebellar tonsillectomy for Chiari malformation-I complicated with syringomyelia[J].Clin Neurol Neurosurg,2018,176:1-7.
16.Goel A,Bhatjiwale M,Desai K.Basilar invagination:a study based on 190 surgically treated patients[J].J Neurosurg,1998,88(6):962-968.
17.王建华,尹庆水,夏虹,等.颅底凹陷症的分型及其意义[J].中国脊柱脊髓杂志,2011,21(4):290-294.
18.陈灏珠.中国医学百科全书[M].上海:科学技术出版社,1982.26-27.
19.Offen S,Jackson D,Canniffe C,et al.Dextrocardia in adults with congenital heart disease[J].Heart Lung Circ,2016,25(4):352-357.
20.陈宏伟,谢纳新,张志孟,等.先天性右位心的诊断及其合并畸形的外科治疗[J].中国医学工程,2011,19(9):48-49+52.
21.Bozcali E,Ucpunar H,Sevencan A,et al.A retrospective study of congenital cardiac abnormality associated with scoliosis[J].Asian Spine J,2016,2:226-230.
22.余可谊,邱贵兴,王以朋,等.全内脏转位合并脊柱侧凸的临床诊治[J].中华骨科杂志,2009,29(4):369-371.
23.Hensinger RN.Congenital abnomalies of cervical spine[J].Clin Orthop Relat Res,1991,264:16-38.
24.Moore K,Persaud TVN.The developing human:clinially oriented embryology[M].Philadelphia:W.B.Saunders Company,1998.125.
25.Kaplan KM,Spivak JM,Bendo JA.Embryology of the spine and associated congenital abnormalities[J].Spine J,2005,5(5):564-576.
26.曹隽,孙琳.先天性脊柱畸形合并其他系统畸形的研究概况[J].中国医刊,2009,44(11):24-27.
27.刘嘉琦,刘森,吴南,等.TBX6基因与先天性脊柱畸形的研究进展[J].中国骨与关节外科杂志,2014,7(2):171-175.
28.Boyles AL,Enterline DS,Hammock PH,et al.Phenotypic definition of Chiari type I malformation coupled with high-density SNP genome screen shows significant evidence for linkage to regions on chromosomes 9 and 15[J].Am JMed Genet A,2010,140(24):2776-2785.
29.Nagib MG,Maxwell RE,Chou SN.Identification and management of high-risk patients with Klippel-Feil syndrome[J].J Neurosurg,1984,61(3):523-530.
30.Clarke R A,Catalan G,Diwan A D,et al.Heterogeneity in Klippel-Feil syndrome:a new classification[J].Pediatr Radiol,1998,28(12):967-974.
31.何菲.70例右位心患儿临床病例分析[D].重庆医科大学.2013.
32.Subramaniam P,Babu KL,Sugnani S.Rare association of Klippel Feil syndrome with cleft palate and congenital cardiac deformities:a case report[J].J Clin Pediatr Dent,2010,35(14):213-216.
33.Futane S,Salunke P.Klippel-Feil syndrome with atlanto-axial dislocation,anomalous vertebral artery,dextrocardia and situs inversus[J].Clin Neurol Neurosurg,2013,115(10):2304-2306.
34.Atasoy HI,Yavuz T,Altunrende S,et al.A unique case of right-sided Poland syndrome with true dextrocardia and total situs inversus[J].Eur J Pediatr,2013,172(2):269-272.
35.Chacón-Camacho O,Camarillo-Blancarte L,Pelaez-González H,et al.Klippel-Feil syndrome associated with situs inversus:description of a new case and exclusion of GDF1,GDF3 and GDF6 as causal genes[J].Eur J Med Genet,2012,55(6-7):414-417.
36.Reboa E,De LE.Klippel-Feil syndrome with congenital high scapula and cardiac dextroposition[J].Pediatria,1962,70(5):1238-1247.
37.Al-Rajeh S,Chowdhary UM,Al-Freihi H,et al.Thoracic disc protrusion and situs inversus in Klippel-Feil syndrome[J].Spine,1990,15(12):1379-1381.
38.Cincinnati P,Midi P,Rutiloni C.Klippel-Feil syndrome,thenar hypoplasia,carpal anomalies and situs inversus viscerum[J].Clin Dysmorphol,2000,9(4):291-292.
39.Jain MK,Jain M,Baghel PK.Situs inversus and compressive myelopathy in Klippel Feil syndrome[J].J Assoc Physicians India,2000,48(9):928-929.
40.Jalil J,Shafique M,Dar NR.Klippel-Feil syndrome with situs inversus:a rare association[J].J Coll Physicians Surg Pak,2008,18(4):248-249.
2.Labuda R,Loth F,Slavin K,et al.National Institutes of Health Chiari Research Conference:state of the research and new directions[J].Neurol Res,2011,33(3):227-231.
3.Rapoport Y,Fox C,Khade P,et al.Perioperative implications and management of dextrocardia[J].J Anesth,2015,29(5):769-785.
4.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.
5.Nagib MG,Maxwell RE,Chou SN.Identification and management of high-risk patients with Klippel-Feil syndrome[J].JNeurosurg,1984,61(3):523-530.
6.Vaidyanathan S,Hughes PL,Soni BM.Klippel-Feil syndrome-the risk of cervical spinal cord injury:a case report[J].BMC Fam Pract,2002,3:6.
7.庞晓林,邵燕斌,杨永涛,等.Klippel-Feil综合征患者行法洛四联症根治术麻醉一例[J].临床麻醉学杂志,2012,28(7):720-721.
8.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.
9.曹广如,廖文波,王霞,等.Klippel-Feil综合征颈椎后凸畸形的手术治疗[J].中国脊柱脊髓杂志,2013,23(2):185-186.
10.Bejjani GK.Definition of the adult Chiari malformation:a brief historical overview[J].Neurosurg Focus,2001,11(1):E1.
11.Arnautovic A,Splavski B,Boop FA,et al.Pediatric and adult Chiari malformation type I surgical series 1965-2013:a review of demographics,operative treatment,and outcomes[J].J Neurosurg Pediatr,2015,15(2):161-177.
12.Williams B,Fahy G.A critical appraisal of"terminal ventriculostomy"for the treatment of syringomyelia[J].J Neurosurg,1983,58(2):188.
13.Dyste GN,Menezes AH,Vangilder JC.Symptomatic Chiari malformations[J].J Neurosurg,1989,71(2):159-168.
14.Ramnarayan R,Praharaj MS,Jayakumar PN.Chiari 1 malformations:an Indian hospital experience[J].Singapore Med J,2008,49(12):1029-34.
15.Jia C,Li HW,Wu JR,et al.Comparison decompression by duraplasty or cerebellar tonsillectomy for Chiari malformation-I complicated with syringomyelia[J].Clin Neurol Neurosurg,2018,176:1-7.
16.Goel A,Bhatjiwale M,Desai K.Basilar invagination:a study based on 190 surgically treated patients[J].J Neurosurg,1998,88(6):962-968.
17.王建华,尹庆水,夏虹,等.颅底凹陷症的分型及其意义[J].中国脊柱脊髓杂志,2011,21(4):290-294.
18.陈灏珠.中国医学百科全书[M].上海:科学技术出版社,1982.26-27.
19.Offen S,Jackson D,Canniffe C,et al.Dextrocardia in adults with congenital heart disease[J].Heart Lung Circ,2016,25(4):352-357.
20.陈宏伟,谢纳新,张志孟,等.先天性右位心的诊断及其合并畸形的外科治疗[J].中国医学工程,2011,19(9):48-49+52.
21.Bozcali E,Ucpunar H,Sevencan A,et al.A retrospective study of congenital cardiac abnormality associated with scoliosis[J].Asian Spine J,2016,2:226-230.
22.余可谊,邱贵兴,王以朋,等.全内脏转位合并脊柱侧凸的临床诊治[J].中华骨科杂志,2009,29(4):369-371.
23.Hensinger RN.Congenital abnomalies of cervical spine[J].Clin Orthop Relat Res,1991,264:16-38.
24.Moore K,Persaud TVN.The developing human:clinially oriented embryology[M].Philadelphia:W.B.Saunders Company,1998.125.
25.Kaplan KM,Spivak JM,Bendo JA.Embryology of the spine and associated congenital abnormalities[J].Spine J,2005,5(5):564-576.
26.曹隽,孙琳.先天性脊柱畸形合并其他系统畸形的研究概况[J].中国医刊,2009,44(11):24-27.
27.刘嘉琦,刘森,吴南,等.TBX6基因与先天性脊柱畸形的研究进展[J].中国骨与关节外科杂志,2014,7(2):171-175.
28.Boyles AL,Enterline DS,Hammock PH,et al.Phenotypic definition of Chiari type I malformation coupled with high-density SNP genome screen shows significant evidence for linkage to regions on chromosomes 9 and 15[J].Am JMed Genet A,2010,140(24):2776-2785.
29.Nagib MG,Maxwell RE,Chou SN.Identification and management of high-risk patients with Klippel-Feil syndrome[J].J Neurosurg,1984,61(3):523-530.
30.Clarke R A,Catalan G,Diwan A D,et al.Heterogeneity in Klippel-Feil syndrome:a new classification[J].Pediatr Radiol,1998,28(12):967-974.
31.何菲.70例右位心患儿临床病例分析[D].重庆医科大学.2013.
32.Subramaniam P,Babu KL,Sugnani S.Rare association of Klippel Feil syndrome with cleft palate and congenital cardiac deformities:a case report[J].J Clin Pediatr Dent,2010,35(14):213-216.
33.Futane S,Salunke P.Klippel-Feil syndrome with atlanto-axial dislocation,anomalous vertebral artery,dextrocardia and situs inversus[J].Clin Neurol Neurosurg,2013,115(10):2304-2306.
34.Atasoy HI,Yavuz T,Altunrende S,et al.A unique case of right-sided Poland syndrome with true dextrocardia and total situs inversus[J].Eur J Pediatr,2013,172(2):269-272.
35.Chacón-Camacho O,Camarillo-Blancarte L,Pelaez-González H,et al.Klippel-Feil syndrome associated with situs inversus:description of a new case and exclusion of GDF1,GDF3 and GDF6 as causal genes[J].Eur J Med Genet,2012,55(6-7):414-417.
36.Reboa E,De LE.Klippel-Feil syndrome with congenital high scapula and cardiac dextroposition[J].Pediatria,1962,70(5):1238-1247.
37.Al-Rajeh S,Chowdhary UM,Al-Freihi H,et al.Thoracic disc protrusion and situs inversus in Klippel-Feil syndrome[J].Spine,1990,15(12):1379-1381.
38.Cincinnati P,Midi P,Rutiloni C.Klippel-Feil syndrome,thenar hypoplasia,carpal anomalies and situs inversus viscerum[J].Clin Dysmorphol,2000,9(4):291-292.
39.Jain MK,Jain M,Baghel PK.Situs inversus and compressive myelopathy in Klippel Feil syndrome[J].J Assoc Physicians India,2000,48(9):928-929.
40.Jalil J,Shafique M,Dar NR.Klippel-Feil syndrome with situs inversus:a rare association[J].J Coll Physicians Surg Pak,2008,18(4):248-249.