[1]乔飞,蒋飞,孙琳,等.椎体发育不良型Ehlers-Danlos综合征一例报告及文献复习[J].临床小儿外科杂志,2020,19(11):1056-1060.[doi:10.3969/j.issn.1671-6353.2020.11.018]
 Qiao Fei,Jiang Fei,Sun Lin,et al.One case report of spondylocheiro dysplastic Ehlers-Danlos syndrome with a literature review[J].Journal of Clinical Pediatric Surgery,2020,19(11):1056-1060.[doi:10.3969/j.issn.1671-6353.2020.11.018]
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椎体发育不良型Ehlers-Danlos综合征一例报告及文献复习

参考文献/References:

1 Parapia LA,Jackson C.Ehlers-Danlos syndrome-a historical review[J].British Journal of Haematology,2008,141(1):32-35.DOI:10.1111/j.1365-2141.2008.06994.x.
2 Beighton P,Paepe AD,Steinmann B,et al.Ehlers-Danlos syndromes:Revised nosology,Villefranche,1997[J].American Journal of Medical Genetics Part A,1998,77(1):31-37.DOI:10.1002/(sici)1096-8628(19980428)77:1<31::aid-ajmg8>3.0.co;2-o.
3 Savasta S,Merli P,Ruggieri M,et al.Ehlers-Danlos syndrome and neurological features:a review[J].Childs Nervous System Chns Official Journal of the International Society for Pediatric Neurosurgery,2011,27(3):365-371.DOI:10.1007/s00381-010-1256-1.
4 De Paepe A,Malfait F.The Ehlers-Danlos syndrome,a disorder with many faces[J].Clinical Genetics,2012,82(1):1-11.DOI:10.1111/j.1399-0004.2012.01858.x.
5 Mitchell AL,Schwarze U,Jennings JF,et al.Molecular mechanisms of classical Ehlers-Danlos syndrome (EDS)[J].Human Mutation,2009,30(6):995-1002.DOI:10.1002/humu.21000.
6 McKusick VA.The Ehlers-Danlos syndrome[M].Heritabie disorders of Connective tissue,4th Edition,St.Louis:Mosby,1972:292-371.
7 Beighton P,de Paepe A,Danks D,et al.International nosology of heritable disorders of connective tissue,Berlin,1986[J].American Journal of Medical Genetics Part A,1988,29(3):581-594.DOI:10.1002/ajmg.1320290316.
8 Malfait F,Francomano C,Byers P,et al.The 2017 international classification of the Ehlers-Danlos syndromes[J].American Journal of Medical Genetics Part C Seminars in Medical Genetics,2017,175(1):8.DOI:10.1002/ajmg.c.31552.
9 Faiyazulhaque M,Zaidi S,Alali M,et al.A novel missense mutation in the galactosyltransferase-I (B4GALT7) gene in a family exhibiting facioskeletal anomalies and Ehlers-Danlos syndrome resembling the progeroid type[J].American Journal of Medical Genetics Part A,2010,128A(1):39-45.DOI:10.1002/ajmg.a.30005.
10 Ritelli M,Dordoni C,Cinquina V,et al.Expanding the clinical and mutational spectrum of B4GALT7-spondylodysplastic Ehlers-Danlos syndrome[J].Orphanet Journal of Rare Diseases,2017,12(1):153.DOI:10.1186/s13023-017-0704-3.
11 Fransiska M,Ariana K,Tim VD,et al.Defective initiation of glycosaminoglycan synthesis due to B3GALT6 mutations causes a pleiotropic Ehlers-Danlos-syndrome-like connective tissue disorder[J].American Journal of Human Genetics,2013,92(6):935-945.DOI:10.1016/j.ajhg.2013.04.016.
12 Bin BH,Fukada T,Hosaka T,et al.Biochemical characterization of human ZIP13 protein:a homo-dimerized zinc transporter involved in the spondylocheiro dysplastic Ehlers-Danlos syndrome[J].Journal of Biological Chemistry,2011,286(46):40255-40265.DOI:10.1074/jbc.M111.256784.
13 卢新平.马凡氏综合征8例分析[J].中国误诊学杂志,2008,8(30):7520-7521.DOI:10.3969/j.issn.1009-6647.2008.30.220. Lu XP.Analysis of 8 cases of Marfan’s syndrome[J].Chin J Misdiag,2008,8(30):7520-7521.DOI:10.3969/j.issn.1009-6647.2008.30.220.
14 Loeys BL,Schwarze L,Holm T.Aneurysm syndromes caused by mutations in the TGF-beta receptor[J].Journal of Vascular Surgery,2006,44(6):1374-1375.DOI:10.1016/j.jvs.2006.10.011.
15 Hucthagowder V,Sausgruber N,Kim KH,et al.Fibulin-4:A novel gene for an autosomal recessive cutis laxa syndrome[J].American Journal of Human Genetics,2006,78(6):1075-1080.DOI:10.1086/504304.
16 Kornak U,Reynders E,Dimopoulou A,et al.Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2[J].Nature Genetics,2008,40(1):32-34.DOI:10.1038/ng.2007.45.
17 Mohamed M,Kouwenberg D,Gardeitchik T,et al.Metabolic cutis laxa syndromes[J].Journal of Inherited Metabolic Disease,2011,34(4):907-916.DOI:10.1007/s10545 -011-9305-9.
18 王景明,赵永飞.Ehlers-Danlos综合征的诊断与治疗新进展[J].疑难病杂志,2016,15(6):655-659.DOI:10.3969/j.issn.1671-6450.2016.06.029. Wang JM,Zhao YF.Recent advances in the diagnosis and treatment of Ehlers-Danolos syndrome[J].Chin J Diffic and Compl Cas,2016,15(6):655-659.DOI:10.3969/j.issn.1671-6450.2016.06.029.
19 Arthur K,Caldwell K,Forehand S,et al.Pain control methods in use and perceived effectiveness by patients with Ehlers-Danlos syndrome:a descriptive study[J].Disability and Rehabilitation,2015,38(11):1-12.DOI:10.3109/09638288.2015.1092175.
20 江贤萍,韩春锡,陈盼盼,等.Ehlers-Danlos综合征1例[J].临床皮肤科杂志,2013,42(3):179-180.DOI:10.3969/j.issn.1000-4963.2013.03.019. Jiang XP,Han CX,Chen PP,et al.One case report of Ehlers-Danlos syndrome[J].J Clin Dermatol,2013,42(3):179-180.DOI:10.3969/j.issn.1000-4963.2013.03.019.
21 Castori M.Ehlers-Danlos syndrome,hypermobility type:an underdiagnosed hereditary connective tissue disorder with mucocutaneous,articular,and systemic manifestations[J].ISRN Dermatol,2016,2012(7):751768.DOI:org/10.5402/2012/751768.
22 Casey MC,Robertson I,Waters PS,et al.Non-operative management of diverticular perforation in a patient with suspected Ehlers-Danlos syndrome[J].International Journal of Surgery Case Reports,2014,5(3):135-137.DOI:10.1016/j.ijscr.2013.12.024.
23 Risser JC.The application of body casts for the correction of scoliosis[J].Instr Course Lect,1955,12(4):255-259.
24 Mehta MH.Growth as a corrective force in the early treatment of progressive infantile scoliosis[J].J Bone Joint Surg Br,2005,87(9):1237-1247.DOI:10.1302/0301-620X.87B9.16124.
25 Demirkiran HG,Bekmez S,Celilov R,et al.Serial derotational casting in congenital scoliosis as a time-buying strategy[J].J Pediatr Orthop,2015,35(1):43-49.DOI:10.1097/BPO.0000000000000229.
26 曹隽,张学军,郭东,等.系列石膏与支具治疗对小儿先天性脊柱侧凸延迟手术的作用[J].中国脊柱脊髓杂志,2018,28(12):1101-1106.DOI:10.3969/j.issn.1004-406X.2018.12.08. Cao J,Zhang XJ,Guo D,et al.Serial casting versus bracing during delayed surgery for congenital scoliosis[J].Chinese Journal of Spine and Spinal Cord,2018,28(12):1101-1106.DOI:10.3969/j.issn.1004-406X.2018.12.08.
27 Strurm PF,Anadio JM,Dede O.Recent advances in the management of early onset scoliosis[J].Orhtop Clin North Am,2014,45(4):501-514.DOI:10.1016/j.ocl.2014.06.010.
28 薛旭红,沈建雄.Ehlers-Danlos综合征[J].脊柱外科杂志,2013,11(6):378-381.DOI:10.3969/j.issn.1672-2957.2013.06.014. Xue XH,Shen JX.Ehlers-Danlos Syndrome[J].J Spinal Surg,2013,11(6):378-381.DOI:10.3969/j.issn.1672-2957.2013.06.014.
29 Rabenhorst BM,Garg S,Herring JA.Posterior spinal fusion in patients with Ehlers-Danlos syndrome:a report of six cases[J].Journal of Childrens Orthopaedics,2012,6(2):131-136.DOI:10.1007/s11832-012-0393-3.
30 Yang JS,Sponseller PD,Yazici M.Vascular complications from anterior spine surgery in three patients with Ehlers-Danlos syndrome[J].Spine,2009,34(4):153-157.DOI:10.1097/brs.0b013e31818d58da.
31 Salter RB.Innominate osteotomy in the treatment of congenital dislocation and subluxation of the hip[J].Clin Orthop Relat Res,1978,43(137):2-14.DOI:10.1007/s003830050433.
32 李海冰,叶文松,徐璐杰,等.分期Salter骨盆截骨术治疗儿童双侧发育性髋关节脱位的疗效分析[J].中华小儿外科杂志,2018,39(3):190-195.DOI:10.3760/cma.j.issn.0253-3006.2018.03.006. Li HB,Ye WS,Xu LJ,et al.Outcomes of bilateral developmental dysplasia of the hip after a two-stage procedure of open reduction and Salter osteotomy[J].Chin J Pediatr Surg,2018,39(3):190-195.DOI:10.3760/cma.j.issn.0253-3006.2018.03.006.
33 孙庆增,史迎春.双侧同期Salter骨盆截骨术治疗发育性双侧髋关节脱位的远期疗效观察[J].临床小儿外科杂志,2018,17(2):52-56.DOI:10.3969/j.issn.1671-6353.2018.02.010. Sun QZ,Shi YC.Long-term efficacies of single-stage Salter innominate osteotomy for developmental dysplasia of both hips[J].J Clin Ped Sur,2018,17(2):52-56.DOI:10.3969/j.issn.1671-6353.2018.02.010.

备注/Memo

收稿日期:2019-06-02。
通讯作者:孙琳,Email:marksunhk@126.com

更新日期/Last Update: 1900-01-01