Brachymetatarsia

Brachymetataria
  • 文章类型: Journal Article
    目的:牵张成骨的手术技术可影响终末预后。然而,目前尚无标准化的外科手术和并发症管理指南.本研究的目的是探讨基于Ilizarov技术的微创截骨术外固定骨延长在治疗先天性短暂性转移中的作用。
    方法:回顾性研究了先天性远足性meta骨延长术治疗的患者,从2017年6月到2020年12月。有11例患者有17例第四跖骨短路,包括10名女性和1名男性,年龄24.6±4.5岁(16-31岁)。六名患者双侧受累。Orthofix外固定器微型轨道通过背侧入路安装,第四个MTP关节通过克氏针临时固定。在近端meta骨进行微创截骨术后进行骨延长。美国矫形外科足踝协会(AOFAS)较小的meta趾-指间(MTP-IP)评分,跖骨长度,记录并发症。使用配对t-student检验对术前和术后AOFASMTP-IP评分进行统计比较。
    结果:患者随访55±10.8个月。术前第四跖骨的平均长度为49.9±2.9mm。平均meta骨短缺为18.8±3.1mm。达到的平均加长为19.8±3.3mm,延长率为39.7%±6.6%。延长的愈伤组织在术后3-4个月完全骨化。所有患者对延长的结果均满意。AOFAS评分从术前83.7±4.2显著提高至术后93.2±2.7(t=-10.27,p<0.001)。1例创伤性meta趾关节半脱位患者通过关节复位和克氏针固定治疗。一名患者由于屈曲挛缩而进行了meta趾关节松解术和克氏针固定。6例患者通过伤口护理和抗生素控制了针道感染。所有病人都没有骨不连,脚趾坏死,和脚趾的感觉障碍。
    结论:外固定支架微创截骨下骨延长术治疗先天性短肢转移症效果满意。
    OBJECTIVE: Surgical technique in distraction osteogenesis for the treatment of brachymetatarsia can influence the final prognosis. However, there are currently no standardized guidelines for surgical procedures and complication management. The aim of this study is to investigate the effect of bone lengthening with external fixation by minimally invasive osteotomy based on Ilizarov technique in the treatment of congenital brachymetatarsia.
    METHODS: A retrospective study was conducted on patients with congenital brachymetatarsia treated by metatarsal lengthening, from June 2017 to December 2020. There were 11 patients with 17 shorted fourth metatarsals, including 10 females and 1 male, with age of 24.6 ± 4.5 years (16-31 years). Six patients were bilaterally involved. Orthofix external fixator mini track was installed through dorsal approach and the fourth MTP joints were temporarily fixed by Kirschner wire. Bone lengthening was performed after a minimally invasive osteotomy at the proximal metatarsals. American Orthopedic Foot and Ankle Society (AOFAS) lesser metatarsophalangeal-interphalangeal (MTP-IP) scores, metatarsal length, complications were recorded. Statistical comparison was performed using the paired t-student test for pre- and postoperative AOFAS MTP-IP scores.
    RESULTS: Patients were followed up for 55 ± 10.8 months. The mean length of the fourth metatarsal bone was 49.9 ± 2.9 mm preoperatively. The mean metatarsal shortage was 18.8 ± 3.1 mm. The mean lengthening achieved was 19.8 ± 3.3 mm, with a lengthening ratio of 39.7% ± 6.6%. The lengthened callus ossified completely at 3-4 months after operation. All patients were satisfied with the results of lengthening. The AOFAS scores were improved significantly from 83.7 ± 4.2 preoperatively to 93.2 ± 2.7 postoperatively (t = -10.27, p < 0.001). One patient with traumatic metatarsophalangeal joint subluxation was treated by joint reduction and Kirschner wire fixation. One patient had metatarsophalangeal joint release and Kirschner wire fixation due to flexion contracture. Pin tract infections were controlled by wound care and antibiotics in 6 patients. All patients had no nonunion, necrosis of toes, and sensory disturbance of toes.
    CONCLUSIONS: Metatarsal lengthening by minimally invasive osteotomy with external fixator had satisfactory results in the treatment of congenital brachymetatarsia.
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  • 文章类型: Case Reports
    Brachydactyly是一种遗传性疾病,导致手或脚的手指缩短或缺失。它可以独立发生或作为综合征的一部分。这个案例集中在BrachydactylyB型,最稀有的形式。来自菲律宾的8个月大的孩子因缺少第三脚趾而被转介。检查发现左第三脚趾发育不良。X射线证实了这一发现。讨论了治疗方案,包括保守治疗和随访。诊断涉及病史,考试,和成像。产前诊断仅限于孤立病例,但如果已知家族突变,则可用于综合征形式。预后取决于严重程度和相关综合征。目前尚无明确的治疗方法;管理涉及遗传咨询和治疗。由于案件有限,B型被低估了,强调需要对其遗传学进行更多研究。
    Brachydactyly is a genetic condition leading to shortened or absent digits in hands or feet. It can occur independently or as part of syndromes. This case focuses on Brachydactyly type B, the rarest form. An 8-month-old from the Philippines was referred due to a missing third toe. Examination revealed a hypoplastic left third toe. X-rays confirmed the finding. Treatment options were discussed, including conservative therapy and follow up. Diagnosis involved history, examination, and imaging. Prenatal diagnosis is limited for isolated cases but useful for syndromic forms if a family mutation is known. Prognosis varies depending on the severity and associated syndromes. Currently there is no definitive treatment; management involves genetic counseling and therapy. Due to limited cases, Type B is underreported, highlighting the need for more research into its genetics.
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  • 文章类型: Journal Article
    目的:主要目的是评估儿科患者的手术愈伤组织牵引技术的疗效。次要目标是评估并发症和治疗持续时间。我们还描述了我们的手术技术的细节。
    方法:对2014年至2022年在我们单位进行meta骨延长的儿科患者进行的病例系列回顾。患者人口统计学,帧中的持续时间,记录并发症和达到的跖骨长度.AOFASMidfoot和MOXFQ在术前和最后随访时进行。
    结果:在2014年至2022年之间,使用MiniRailOrthoFix100(OrthofixMedicalInc,Lewisville,TX,美国)。平均年龄为13.3(12-17)岁。手术和植入物移除之间的平均持续时间为5.2个月。根据佩利的分类,有一个障碍,在一个患者需要他们的截骨术的翻修和一个问题,在另一个患者的感染meta趾关节稳定k-wire治疗口服抗生素。平均AOFAS中足评分从53.10提高到86.40(p<0.0001),平均MOXFQ从32.5000提高到12.1250(p<0.05);这些都具有统计学意义。
    结论:使用MiniRail外固定器进行的渐进式meta骨延长术是治疗儿科患者的一种安全有效的方法。此初步报告描述并支持适当患者的meta骨延长。术前评估方面的整体护理,心理支持和延长康复期的准备至关重要。
    OBJECTIVE: The primary aim is to assess the efficacy of the surgical callus distraction technique of the metatarsus in paediatric patients. Secondary objectives are to assess complications and treatment duration. We have also described the details of our surgical technique.
    METHODS: A case series review of paediatric patients who had metatarsal lengthening at our unit between 2014 and 2022. Patient demographics, duration of time in frame, complications and metatarsal length achieved were recorded. The AOFAS Midfoot and the MOXFQ were taken pre-operatively and at final follow-up.
    RESULTS: Sixteen metatarsals in 8 patients (14 feet) underwent lengthening between 2014 and 2022 using the MiniRail OrthoFix 100 (Orthofix Medical Inc, Lewisville, TX, USA). The mean age was 13.3 (12-17) years. The average duration between surgery and implant removal was 5.2 months. According to Paley\'s classification, there was one obstacle encountered in a patient who required a revision of their osteotomy and one problem in another patient who had an infected metatarsophalangeal joint stabilising k-wire treated with oral antibiotics. The Mean AOFAS Midfoot score improved from 53.10 to 86.40 (p < 0.0001) and the Mean MOXFQ improved from 32.5000 to 12.1250 (p < 0.05); these were statistically significant.
    CONCLUSIONS: Gradual metatarsal lengthening using the MiniRail external fixator is a safe and effective method to treat brachymetatarsia in paediatric patients. This preliminary report describes and supports metatarsal lengthening in appropriate patients. Holistic care in terms of a pre-operative assessment, psychological support and preparation for the extended rehabilitation period are vital.
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  • 文章类型: Journal Article
    UNASSIGNED: Brachymetatarsia is marked by the shortened length of one or more metatarsal bones. Several operative options have been suggested without demonstrating the superiority of one treatment over another. This study aims to assess the main available treatment, bone lengthening achieved, clinical outcomes, and complications pertaining to congenital brachymetatarsia interventions.
    UNASSIGNED: A literature search of PubMed, Embase, Scopus, and Cochrane databases was performed according to PRISMA guidelines.
    UNASSIGNED: After the screening process, 13 articles were included in the review. Brachymetatarsia mainly occurs in females at a ratio of 14.8:1, and bilateral involvement in 25.8 % of cases. The fourth metatarsal is most affected, followed by the first metatarsal. The main surgical procedures are one-stage approach which results in limited length gain but fewer complications, and gradual lengthening which achieves greater length but has a higher complication rate, including metatarsophalangeal or interphalangeal subluxation, fractures, and infections. The first metatarsal reported better values concerning lengthening rate and healing index compared to fourth metatarsal, while no differences were observed in distraction rates or clinical outcomes. More complications, such as stiffness, fractures, and cavus foot were associated with first metatarsal lengthening.
    UNASSIGNED: It is not possible to identify a gold standard technique for addressing this condition. The two predominant surgical techniques bear advantages and drawbacks. A judicious case-by-case assessment is mandatory to determine the optimal surgical approach. Exploring the combination of techniques could be promise in mitigating the limitations associated with the main two methods and achieving better forefoot balance.
    UNASSIGNED: Level II, systematic review.
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  • 文章类型: Journal Article
    未经证实:描述使用OrthofixMiniRail系统逐渐延长meta骨的手术技术(OrthofixMedicalInc.,Lewisville,TX,美国)。
    UNASSIGNED:短肢meta骨是指跖骨的缩短。当指示时,进行meta骨延长治疗这种畸形。
    UNASSIGNED:进行了短跖骨的背侧入路,保护神经血管结构和伸肌腱。首先插入最近的金属丝或螺钉,其次是最远端的金属丝或螺钉。远端丝线或螺钉不应插入跖骨头。此后插入中间的电线或螺钉。所有金属丝或螺钉应垂直于骨骼的解剖轴放置。一旦MiniRail延长器被组装,一根1.6毫米的K线从脚趾尖端插入跖骨头,在延长过程中,阻止meta趾关节的运动并避免关节半脱位。然后垂直于跖骨轴进行截骨术,在中间两根电线和螺钉之间。
    UNASSIGNED:详细描述了使用OrthofixMiniRail系统逐渐延长跖骨的手术技术,并附有逐步的术中临床和透视图像。
    UNASSIGNED:这种跖骨延长手术技术简单有效。当治疗超过1厘米的短路畸形时,了解逐渐延长meta骨的手术技术很重要。
    未经批准:MarwanY,AbuDaluK,伯恩斯坦M,etal.使用微型导轨外部固定器系统治疗短肢meta骨的逐渐延长。策略创伤肢体重建2022;17(3):184-188。
    UNASSIGNED: To describe the surgical technique for gradual lengthening of the metatarsal using the Orthofix MiniRail System (Orthofix Medical Inc., Lewisville, TX, USA).
    UNASSIGNED: Brachymetatarsia refers to the shortening of the metatarsal bone. When indicated, metatarsal lengthening is performed to treat this deformity.
    UNASSIGNED: A dorsal approach to the short metatarsal is performed, protecting the neurovascular structures and the extensor tendons. The most proximal wire or screw is inserted first, followed by the most distal wire or screw. The distal wire or screw should not be inserted in the metatarsal head. The middle wires or screws are inserted thereafter. All wires or screws should be placed perpendicular to the anatomic axis of the bone. Once the MiniRail lengthener is assembled, a 1.6 mm K-wire is inserted from the tip of the toe into the metatarsal head, blocking the motion of the metatarsophalangeal joint and avoiding joint subluxation during lengthening. The osteotomy is then performed perpendicular to the metatarsal shaft, in between the middle two wires and screws.
    UNASSIGNED: The surgical technique for gradual lengthening of the metatarsal using the Orthofix MiniRail System was described in detail with accompanying step-by-step intraoperative clinical and fluoroscopic images.
    UNASSIGNED: This surgical technique of metatarsal lengthening is simple and effective. An understanding of the surgical technique of gradual lengthening of the metatarsal bone is important when treating shorting deformities of more than 1 cm.
    UNASSIGNED: Marwan Y, Abu Dalu K, Bernstein M, et al. Metatarsal Gradual Lengthening for Brachymetatarsia Using a Mini-rail External Fixator System. Strategies Trauma Limb Reconstr 2022;17(3):184-188.
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  • 文章类型: Review
    背景:本研究检查了亚急性两阶段跖骨延长并逐渐分散治疗短肢的功能和临床结果。该技术的开发是为了克服一阶段meta骨延长和逐渐分散的缺点。
    方法:对3例先天性短肢meta骨畸形患者的四足进行了亚急性两阶段and骨延长,并逐渐分散。疼痛,函数,术前和随访时使用美国骨科足踝协会(AOFAS)较小的meta趾-指间量表进行评估,并记录任何并发症。
    结果:患者获得随访,平均18.1±6.9(范围,12.6-28.1)个月。平均meta骨长度增加为15.2±3.2(范围,12.1-18.5)mm,相应的百分比增加为32.5%±7.0%(范围,25.7-41.1%)。最终随访时AOFAS平均评分(0-100)为97.5±5.0。外固定器指数为10.2±1.5(范围,8.1-11.6)天/厘米。所有患者均未出现meta趾僵硬,meta趾关节半脱位或脱位,损失校正,针道感染,延迟工会,骨不连,或角畸形。
    结论:亚急性两阶段跖骨延长并逐渐牵张是一种可靠的替代治疗方法。
    BACKGROUND: This study examined the functional and clinical outcomes of subacute two stage metatarsal lengthening with gradual distraction for brachymetatarsia. This technique was developed to overcome the disadvantages of one-stage metatarsal lengthening and gradual distraction.
    METHODS: Four feet of three patients with congenital brachymetatarsia underwent subacute two stage metatarsal lengthening with gradual distraction. Pain, function, and alignment were assessed preoperatively and at follow-ups using the American Orthopaedic Foot and Ankle Society (AOFAS) lesser metatarsophalangeal-interphalangeal scale, and any complications were recorded.
    RESULTS: The patients were followed up for a mean of 18.1 ± 6.9 (range, 12.6-28.1) months. The mean metatarsal length gain was 15.2 ± 3.2 (range, 12.1-18.5) mm, and the corresponding percent increase was 32.5 % ± 7.0 % (range, 25.7-41.1 %). The mean AOFAS score (0-100) was 97.5 ± 5.0 at the final follow-up. The external fixator index was 10.2 ± 1.5 (range, 8.1-11.6) days/cm. None of the patients experienced metatarsophalangeal stiffness, subluxation or dislocation of the metatarsophalangeal joint, loss of correction, pin tract infection, delayed union, nonunion, or angular deformities.
    CONCLUSIONS: Subacute two stage metatarsal lengthening with gradual distraction is a reliable alternative treatment for brachymetatarsia.
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  • 文章类型: Journal Article
    背景:严重的有症状的骨痂转移患者通常使用外部微型固定器(EF)或内部装置(ID)进行治疗。这项研究指出了两种方法比较临床和影像学参数的优点和局限性。
    方法:回顾性分析12例患者的21个跖骨。12个meta骨接受ID(GenosMini)治疗,九与EF(MiniRail)。
    结果:使用EF的平均延长距离为17.3mm,使用ID的平均延长距离为11.7mm(p=0.016)。在接受EF治疗的89%的meta骨和接受ID治疗的33%中观察到不良结果(p=0.011)。使用EF需要33%的术后手术干预,而使用ID需要0%(p=0.031)。使用EF,平均总德国足功能指数(FFI-T)从49提高到33,使用ID从47提高到22(p<0.001)。
    结论:CD是一种可靠的BMT手术治疗方法。在为患者提供治疗方案咨询时,外科医生应意识到植入物相关的优势和并发症。
    BACKGROUND: Symptomatic patients with severe brachymetatarsia are commonly treated with callus distraction using external mini-fixator (EF) or internal device (ID). This study points out advantages and limitations of both methods comparing clinical and radiographical parameters.
    METHODS: Retrospective analysis of 21 metatarsal bones in twelve patients. Twelve metatarsals were treated with ID (Genos Mini), nine with EF (MiniRail).
    RESULTS: Mean lengthening distance was 17.3 mm using EF and 11.7 mm using ID (p = 0.016). Adverse results were observed in 89% of metatarsals treated with EF and in 33% treated with ID (p = 0.011). Postoperative surgical intervention was required in 33% using EF compared to 0% using ID (p = 0.031). Mean total German Foot Function Index (FFI-T) improved from 49 to 33 using EF and from 47 to 22 using ID (p < 0.001).
    CONCLUSIONS: CD is a reliable surgical treatment for BMT. Surgeons should be aware of implant-related advantages and complications when counseling patients about treatment options.
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  • 文章类型: Journal Article
    本文介绍了矫正儿童先天性短暂性转移症的3种主要手术选择。通过延长截骨术和移植插入延长的一期延长适用于小于10mm的缺损。对于从10mm到20mm以上的较大缺陷,通过用外部或内部固定器牵引愈伤组织逐渐延长是合适的。在过去的几年里,由于早期完全负重和儿童术后舒适度的显着改善,因此使用内部微型固定器进行骨痂牵引成为普遍确立的。所有3个外科手术都提供了全面的图像材料。
    This article describes the 3 main surgical options for correction of congenital brachymetatarsia in childhood. The one-stage lengthening by lengthening osteotomy and lengthening with graft interposition are suitable for defects less than 10 mm. For the greater defects from 10 mm to more than 20 mm, gradual lengthening by callus distraction with an external or internal fixator is appropriate. Over the last years, callus distraction with an internal minifixator became commonly established because of the significantly improved aftercare with early full weight-bearing and high postoperative comfort for the child. All 3 surgical procedures are presented with comprehensive image material.
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  • 文章类型: Journal Article
    Level of Evidence: Level V.
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  • 文章类型: Journal Article
    背景:NARS2(MIM:612803)中的突变与联合氧化磷酸化缺陷24(COXPD24;MIM:616239)相关,后者是一种罕见的线粒体和多系统常染色体隐性遗传疾病。
    目的:我们旨在检测两个患有进行性共济失调的兄弟姐妹的潜在遗传因素,癫痫,和严重到严重的听力障碍。
    方法:在进行医学评估和相关测试(即,听觉脑干反应,纯音耳声发射试验,心脏检查,计算机断层扫描,和脑电图),由于临床和可能的遗传异质性,进行了全外显子组测序,通过Sanger测序证实了共分离分析。使用序列功能生物信息学工具评估了新变体的生物学影响。
    结果:一个新的纯合错义变体,NM_024678.6:c.545T>A;p.(Ile182Lys),在两名患者中都发现了NARS2第5外显子,并通过Sanger测序进行了验证.在计算机分析中引入了这种变异作为致病性。二尖瓣脱垂伴轻度反流,短枝转移症,严重的外翻,据报道,棍状手指是与NARS2基因相关的新表现。通过文献综述,我们还强调了疾病表型的高度异质性.
    结论:此处,我们报道了伊朗近亲COXPD24家族中两名女性患者的一些新表型和基因型特征,这是由NARS2-NM_024678.6的变异引起的:c.545T>A;p。(Ile182Lys)。此外,我们的数据扩大了NARS2相关疾病的表型和基因型谱,并证实了COXPD24中基因型-表型相关性的不可预知性.
    BACKGROUND: Mutations in NARS2 (MIM: 612803) are associated with combined oxidative phosphorylation deficiency 24 (COXPD24; MIM: 616239) that is a rare mitochondrial and a multisystem autosomal recessive disorder.
    OBJECTIVE: We aimed to detect the underlying genetic factors in two siblings with progressive ataxia, epilepsy, and severe-to-profound hearing impairment.
    METHODS: After doing medical assessments and pertinent tests (i.e., auditory brainstem responses, pure tone otoacoustic emission test, cardiac examinations, computed tomography, and electroencephalogram), because of the clinical and probable genetic heterogeneity, whole-exome sequencing was performed, and co-segregation analysis was confirmed by Sanger sequencing. Biological impacts of the novel variant were evaluated using sequence-to-function bioinformatics tools.
    RESULTS: A novel homozygous missense variant, NM_024678.6:c.545 T > A; p.(Ile182Lys), in exon 5 of NARS2 was identified in both patients and verified by Sanger sequencing. In silico analyses introduced this variant as pathogenic. Mitral valve prolapses with mild regurgitation, brachymetatarsia, severe hallux valgus, and clubbed fingers were reported as novel manifestations in association with NARS2 gene. By doing a literature review, we also underscored the high heterogeneity of disease phenotype.
    CONCLUSIONS: Herein, we report some novel phenotype and genotype features of two female patients in an Iranian consanguineous family with COXPD24, caused by a variant in NARS2-NM_024678.6: c.545 T > A; p.(Ile182Lys). Moreover, our data expanded the phenotype and genotype spectrum of NARS2-related disorder and confirmed an unpredictable nature of genotype-phenotype correlation in COXPD24.
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