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一名患有脊椎骨骺发育不良的儿科患者的严重膝反屈畸形:使用Z形钢板和六足框架逐步矫正

Extreme Genu Recurvatum Deformity in a Pediatric Patient With Spondyloepiphyseal Dysplasia: Gradual Correction With Z-plates and Hexapod Frame.

作者信息

Seymour James, Vij Neeraj, Belthur Mohan

机构信息

Orthopedic Surgery, MountainView Regional Medical Center, Las Cruces, USA.

Orthopedic Surgery, University of Arizona College of Medicine - Phoenix, Phoenix, USA.

出版信息

Cureus. 2022 May 23;14(5):e25265. doi: 10.7759/cureus.25265. eCollection 2022 May.

DOI:10.7759/cureus.25265
PMID:35755523
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9218242/
Abstract

Spondyloepiphyseal dysplasia is a type II collagenopathy with resulting spinal and extremity deformities. The clinical manifestations include short stature, hearing loss, kyphoscoliosis, and complex knee deformities. Genu recurvatum can be a challenging surgical problem, especially when the deformity is severe. In this report, we present a case of severe genu recurvatum in a 14-year-old female that was treated with a pediatric circular fixator with the addition of two z-plates. At one year follow-up, the patient demonstrated improved knee range of motion, tibial alignment with the radiographic union, and good ambulatory ability. The hexapod fixator with the use of two Z-plates may help ensure that appropriate ring strut angles are achieved. Larger studies regarding the efficacy of this treatment option in spondyloepiphyseal dysplasia are required.

摘要

脊椎骨骺发育不良是一种II型胶原病,可导致脊柱和四肢畸形。临床表现包括身材矮小、听力丧失、脊柱侧凸和复杂的膝关节畸形。膝反屈可能是一个具有挑战性的手术问题,尤其是当畸形严重时。在本报告中,我们介绍了一名14岁女性严重膝反屈的病例,该患者接受了儿童环形固定器治疗,并附加了两个Z形钢板。在一年的随访中,患者的膝关节活动范围有所改善,胫骨对线良好且影像学显示骨愈合,行走能力良好。使用两个Z形钢板的六足固定器可能有助于确保获得合适的环形支柱角度。需要针对这种治疗方案在脊椎骨骺发育不良中的疗效进行更大规模的研究。

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本文引用的文献

1
A novel deletion variant in TRAPPC2 causes spondyloepiphyseal dysplasia tarda in a five-generation Chinese family.TRAPPC2基因中的一种新型缺失变异导致一个五代中国家系患迟发性脊椎骨骺发育不良。
BMC Med Genet. 2020 May 29;21(1):117. doi: 10.1186/s12881-020-01052-8.
2
Novel variants in COL2A1 causing rare spondyloepiphyseal dysplasia congenita.导致罕见先天性脊椎干骺端发育不良的 COL2A1 新型变异。
Mol Genet Genomic Med. 2020 Mar;8(3):e1139. doi: 10.1002/mgg3.1139. Epub 2020 Jan 23.
3
Skeletal deterioration in COL2A1-related spondyloepiphyseal dysplasia occurs prior to osteoarthritis.
COL2A1 相关的脊椎干骺端发育不良导致的骨骼恶化先于骨关节炎发生。
Osteoarthritis Cartilage. 2020 Mar;28(3):334-343. doi: 10.1016/j.joca.2019.12.011. Epub 2020 Jan 17.
4
Valgus Hip Osteotomy in Children With Spondyloepiphyseal Dysplasia Congenita: Midterm Results.先天性脊柱骨骺发育不良患儿的髋外翻截骨术:中期结果
J Pediatr Orthop. 2019 Jul;39(6):282-288. doi: 10.1097/BPO.0000000000000945.
5
Novel loss-of-function variants of TRAPPC2 manifesting X-linked spondyloepiphyseal dysplasia tarda: report of two cases.表现为X连锁迟发性脊椎骨骺发育不良的TRAPPC2新型功能丧失变异体:两例报告。
BMC Med Genet. 2019 May 3;20(1):70. doi: 10.1186/s12881-019-0802-2.
6
Identification of an Autosomal Dominant Mutation in the Gene Leading to Spondyloepiphyseal Dysplasia Congenita in a Greek Family.在一个希腊家庭中发现导致先天性脊椎骨骺发育不良的基因中的常染色体显性突变。
Mol Syndromol. 2019 Jan;9(5):241-246. doi: 10.1159/000492190. Epub 2018 Aug 31.
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What Are the Biomechanical Properties of the Taylor Spatial Frame™?泰勒空间框架™的生物力学特性有哪些?
Clin Orthop Relat Res. 2017 May;475(5):1472-1482. doi: 10.1007/s11999-016-5182-8. Epub 2016 Nov 28.
8
Upper Cervical Fusion in Children With Spondyloepiphyseal Dysplasia Congenita.先天性脊椎骨骺发育不良患儿的上颈椎融合术
J Pediatr Orthop. 2017 Oct/Nov;37(7):466-472. doi: 10.1097/BPO.0000000000000702.
9
A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype.一项针对93例因COL2A1基因突变导致先天性脊柱骨骺发育不良或相关表型患者队列的临床和放射学特征研究。
Am J Med Genet A. 2015 Mar;167A(3):461-75. doi: 10.1002/ajmg.a.36922. Epub 2015 Jan 21.
10
Correction of proximal tibial recurvatum using the Ilizarov technique.使用伊利扎洛夫技术矫正胫骨近端后凸畸形。
J Pediatr Orthop. 2012 Jan-Feb;32(1):35-41. doi: 10.1097/BPO.0b013e31823b15e2.