Foot Deformities, Congenital

足部畸形,先天性
  • 文章类型: Review
    meta骨内收(MA),最常见的先天性足部畸形,牵涉到前足的内收,正常的后脚对齐。早期诊断很重要,因为如果在9个月大之前开始治疗会更成功。MA的治疗取决于畸形的严重程度,其中轻度至中度畸形可以保守治疗。严重或僵硬畸形的当前护理标准包括由初级保健医生转诊给专家,通过铸造和夹板进行管理。最近,几种矫形器已经证明与铸造同样有效,并且可能允许初级保健医师在不需要转诊的情况下治疗MA.在这篇评论文章中,我们提供了MA的概述,并讨论了诊断和治疗。我们还讨论了新型设备,并建议它们如何影响严重和僵化的MA的未来管理。[佩迪亚特·安。2024;53(4):e152-e156。].
    Metatarsus adductus (MA), the most common congenital foot deformity, involves adduction of the forefoot at the tarsometatarsal joint, with normal hindfoot alignment. Early diagnosis is important because treatment is more successful if initiated before age 9 months. Treatment of MA depends on deformity severity, in which mild to moderate deformity can be treated conservatively. Current standard of care for severe or rigid deformity involves referral by primary care physicians to specialists for management by casting and splinting. Recently, several orthoses have demonstrated equal effectiveness to casting and may allow for primary care physicians to treat MA without the need for referral. In this review article, we provide an overview of MA and discuss diagnosis and treatment. We also discuss novel devices and suggest how they may affect the future management of severe and rigid MA. [Pediatr Ann. 2024;53(4):e152-e156.].
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  • 文章类型: Meta-Analysis
    背景:先天性垂直距骨(CVT)是一种罕见的先天性刚性平足。多年来,已经开发了许多外科技术,以试图最终纠正这种畸形。我们对现有文献进行了系统回顾和荟萃分析,以比较采用不同方法治疗的CVT儿童的结局。
    方法:按照PRISMA指南进行了详细的系统检索。畸形的影像学复发,再手术率,脚踝的运动弧,并比较了以下5种方法的临床评分:两阶段Coleman-Stelling技术,直接中期方法,单级背侧(Seimon)进近,辛辛那提切口,和Dobbs方法。进行了比例的荟萃分析,和数据通过使用DerSimonian和Laird方法的随机效应模型进行汇总。异质性使用I^2统计数据进行评估。作者使用Adelaar评分系统的改进版本来评估临床结果。0.05的α用于所有统计分析。
    结果:31项研究(580英尺)符合纳入标准。据报道,距骨关节半脱位的影像学复发发生率为19.3%,7.8%需要再次手术。在直接内侧入路治疗的儿童中,畸形的影像学复发率最高(29.3%),在单阶段背侧入路队列中最低(11%)(P<0.05)。与所有其他方法相比,单阶段背侧入路队列的再手术率显着降低(2%)(P<0.05)。其他方法的再手术率无明显差异。在Dobbs方法队列中观察到最高的临床评分(8.36),其次是单阶段背侧方法治疗组(7.81)。Dobbs方法产生了最大的踝关节运动弧。
    结论:我们发现单阶段背侧入路队列的影像学复发率和再手术率最低,而在直接内侧入路治疗的患者中,影像学复发率最高。Dobbs方法导致更高的临床评分和踝关节运动弧。未来需要针对患者报告结果的长期研究。
    方法:三级。
    BACKGROUND: Congenital Vertical Talus (CVT) is a rare form of congenital rigid flatfoot. Numerous surgical techniques have been developed over the years in an attempt to definitively correct this deformity. We performed a systematic review and meta-analysis of the existing literature to compare the outcomes of children with CVT treated with different methods.
    METHODS: A detailed systematic search was conducted in accordance with PRISMA guidelines. Radiographic recurrence of the deformity, reoperation rate, ankle arc of motion, and clinical scoring was compared between the following 5 methods: Two-Stage Coleman-Stelling Technique, Direct Medial Approach, Single-Stage Dorsal (Seimon) Approach, Cincinnati Incision, and Dobbs Method. Meta-analyses of proportions were performed, and data were pooled through a random effects model using the DerSimonian and Laird approach. Heterogeneity was assessed using I^2 statistics. The authors used a modified version of the Adelaar scoring system to assess clinical outcomes. An alpha of 0.05 was used for all statistical analysis.
    RESULTS: Thirty-one studies (580 feet) met the inclusion criteria. The reported incidence of radiographic recurrence of talonavicular subluxation was 19.3%, with 7.8% requiring reoperation. Radiographic recurrence of the deformity was highest in the children treated with the direct medial approach (29.3%) and lowest in the Single-Stage Dorsal Approach cohort (11%) ( P <0.05). The reoperation rate was significantly lower in the Single-Stage Dorsal Approach cohort (2%) compared with all other methods ( P <0.05). There was no significant difference in the reoperation rates between the other methods. The highest clinical score was seen in the Dobbs Method cohort (8.36), followed by the group treated with the Single-Stage Dorsal Approach (7.81). The Dobbs Method resulted in the largest ankle arc of motion.
    CONCLUSIONS: We found the lowest radiographic recurrence and reoperation rates in the Single-Stage Dorsal Approach cohort, while the highest rate of radiographic recurrence was seen in those treated with the Direct Medial Approach. The Dobbs Method results in higher clinical scores and ankle arc of motion. Future long-term studies focusing on patient-reported outcomes are needed.
    METHODS: Level III.
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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
    Laurin-Sandrow综合征(LSS)是一种极为罕见的镜手和腿综合征,文献报道少于20例。该综合征归因于位于基因座14q13.3-q21上的MIPOL-1(镜像多指)基因中的突变,该突变编码CCDC193(含有193个卷曲的大肠杆菌结构域)蛋白。它的特点是四肢,面部和中枢神经系统异常,最常见的是腓骨畸形伴腓骨射线重复,多指有固定马蹄的继发性畸形,膝关节不稳定和屈曲畸形。它与尺骨不多见,拇指发育不全/发育不全,尺骨射线复制,共生多指,\'玫瑰花\'手,面部畸形,比如超端粒,宽大的小柱和扁平的鼻子,中枢神经系统异常,如call体发育不全/发育不全,脑积水和肌张力障碍。我们报告了一名2岁的LSS男性儿童,并对这种罕见的综合征进行了文献综述。证据等级:V级(治疗)。
    Laurin-Sandrow syndrome (LSS) is an extremely rare syndrome of mirror hand and leg with less than 20 cases reported in literature. The syndrome has been attributed to a mutation in the MIPOL-1 (mirror-image polydactyly) gene located on locus 14q13.3-q21 coding for CCDC193 (coiled-coli domain containing 193) protein. It is characterised by limb, facial and central nervous system anomalies with the most constant being fibular dimelia with fibular ray duplication, polydactyly with secondary deformities of fixed equinus, knee joint instability and flexion deformity. It is associated less frequently with ulnar dimelia, thumb aplasia/hypoplasia, ulnar ray duplication, symbrachypolydactyly, \'rosette\' hands, facial dysmorphism like hypertelorism, broad columella and flat nose, CNS anomalies like aplasia/hypoplasia of corpus callosum, hydrocephalus and muscular dystonia. We report a 2-year-old male child with LSS and perform a literature review to expound on this rare syndrome. Level of Evidence: Level V (Therapeutic).
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  • 文章类型: Journal Article
    背景:主要目的是确定距骨(TCC)和跟骨关节(CNC)治疗后的临床成功率。次要目的是评估并发症,复发率和翻修率。
    方法:在MEDLINE中进行了搜索,EMBASE和Cochrane图书馆。使用非随机研究方法学指数(MINORS)标准评估方法学质量。主要结果是临床成功率,并按联合和治疗方式的类型进行汇总。计算成功率的95%置信区间(CI)。次要结果包括并发症发生率,联盟复发率,使用视觉模拟评分(VAS)的翻修率和疼痛改善。对插入材料进行子分析。
    结果:包括了由1284个联盟组成的43篇文章,合并平均随访51个月。方法学质量一般。TCC的总体汇总成功率为79%(95%CI,75%-83%)。保守治疗,开放切除和关节镜下切除TCC的成功率为58%(95%CI,42%-73%),80%(95%CI,76%-84%)和86%(95%CI,71%-94%),分别。CNCs的总体成功率为81%(95%CI,75%-85%),100%(95%CI,34%-100%),保守治疗的80%(95%CI,74%-85%)和100%(95%CI,65%-100%),开放切除术和关节镜切除术,分别。发现TCC的合并并发症发生率为4%(95%CI,3%-7%),CNCs的并发症发生率为6%(95%CI,4%-11%)。有和没有TCC介入材料的切除成功率分别为83%(95%CI,78%-87%)和79%(95%CI,65%-88%),CNCs为81%(95%CI,76%-86%)和69%(95%CI,44%-85%),分别。
    结论:治疗tal骨联盟可以被认为是良好的,良好的,以及安全的,TCC和CNCs的总体临床成功率为79%。联合关节镜切除似乎不劣于TCC和CNCs的开放切除。
    方法:四级,系统审查。
    BACKGROUND: The primary aim was to determine the clinical success rate after treatment for talocalcaneal (TCC) and calcaneonavicular coalitions (CNC). The secondary aim was to evaluate the complication, recurrence and revision rate.
    METHODS: A search was carried out in MEDLINE, EMBASE and Cochrane Library. Methodological quality was assessed using the Methodological Index for Non-Randomised Studies (MINORS) criteria. The primary outcome was the clinical success rate and was pooled per type of coalition and treatment modality. 95% Confidence Intervals (CI) of the success rates were calculated. Secondary outcomes included complication rates, coalition recurrence rates, revision rates and pain improvement using the Visual Analogue Scale (VAS). A sub-analysis on interposition material was performed.
    RESULTS: 43 articles comprising of 1284 coalitions were included, with a pooled mean follow-up of 51 months. Methodological quality was fair. The overall pooled success rate for TCCs was 79% (95% CI, 75%-83%). Conservative treatment, open resection and arthroscopic resection of TCCs resulted in success rates of 58% (95% CI, 42%-73%), 80% (95% CI, 76%-84%) and 86% (95% CI, 71%-94%), respectively. CNCs have an overall success rate of 81% (95% CI, 75%-85%), with 100% (95% CI, 34%-100%), 80% (95% CI, 74%-85%) and 100% (95% CI, 65%-100%) for conservative treatment, open resection and arthroscopic resection, respectively. Pooled complication rates of 4% (95% CI, 3%-7%) for TCCs and 6% (95% CI, 4%-11%) for CNCs were found. The success rates of resection with and without interposition material for TCCs were 83% (95% CI, 78%-87%) and 79% (95% CI, 65%-88%), and for CNCs 81% (95% CI, 76%-86%) and 69% (95% CI, 44%-85%), respectively.
    CONCLUSIONS: Treatment of tarsal coalitions can be considered good to excellent as well as safe, with an overall clinical success rate of 79% for TCCs and 81% for CNCs. Arthroscopic resection of the coalition appears to be non-inferior to open resection of TCCs and CNCs.
    METHODS: Level IV, Systematic Review.
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  • 文章类型: Journal Article
    背景:Laurin-Sandrow综合征也称为四聚体镜像多指是一种罕见的先天性疾病,其特征是手的多指多指,通常与尺和/或腓骨重复有关的镜像脚和鼻子异常(鼻翼和短小柱发育不全)。作为一个病理实体,它是异质的,患者表现出各种症状。这篇综述旨在分析病情的不同方面,临床发现和治疗方法等,总结Laurin-Sandrow综合征的主要特点。
    方法:评论基于PubMed上的搜索,以下术语的WebofScienceandResearchgate:“Laurin-Sandrow综合征”,“镜子手”,“镜子脚”,\“四角镜像多指\”,“腓骨双耳病”和“尺骨双耳病”。临床病例,包括评论和原始文章。
    结果:由于我们的发现,我们建议对镜像手-多手光谱的Al-Qattan分类系统进行修改。
    结论:尽管它的发病率极低,对该综合征的全面了解使外科医生能够选择适当的治疗方法,最终目的是提高患者的生活质量。
    BACKGROUND: Laurin-Sandrow syndrome also known as tetramelic mirror-image polydactyly is a rare congenital disorder characterized classically by polysyndactyly of the hands, mirror feet and nose anomalies (hypoplasia of the nasal alae and short columella) often associated with ulnar and/or fibular duplication. As a pathologic entity, it is heterogeneous, the patients displaying a variety of symptoms. This review aims to analyze the different aspects of the condition, such as clinical findings and methods of treatment to summarize the principal features of Laurin-Sandrow syndrome.
    METHODS: The review is based on searches on PubMed, Web of Science and Researchgate of the following terms: \"Laurin-Sandrow syndrome\", \"mirror hands\", \"mirror feet\", \"tetramelic mirror-image polydactyly\", \"fibular dimelia\" and \"ulnar dimelia\". Clinical cases, reviews and original articles were included.
    RESULTS: As a consequence of our findings, we suggest a modification of the Al-Qattan classification system for Mirror Hand-Multiple Hand Spectrum.
    CONCLUSIONS: Even though it has an extremely low incidence, a thorough understanding of the syndrome enables the surgeon to choose the appropriate treatment with the ultimate goal to improve the patient\'s life quality.
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  • 文章类型: Journal Article
    Nicolaides-Baraitser综合征(NCBRS),由SMARCA2基因突变引起的,伴随着智力残疾,先天性畸形,尤其是面部和四肢,通常难以治疗的癫痫,被调查的重点是癫痫及其治疗。通过“罕见癫痫网络治疗(NETRE)”和国际NCBRS父母支持小组招募患者。纳入标准是NCBRS定义的SMARCA2突变。临床发现包括癫痫分类,抗惊厥治疗,脑电图(EEG)的发现,用电子问卷收集神经发育结果。纳入25例NCBRS患者中23例癫痫患者25。总的来说,85%的参与者(17/20)报告了全身性癫痫发作,符号学差异很大。脑电图显示53%(9/17)的全身性癫痫异常,头颅磁共振成像(cMRI)主要不明显。五种最常用的抗惊厥药物是丙戊酸(VPA[12/20]),左乙拉西坦(LEV[12/20]),苯巴比妥(PB[8/20]),托吡酯(TPM[5/20]),和卡马西平(CBZ[5/20])。LEV(9/12),PB(6/8),TPM(4/5),VPA(9/12)使癫痫发作频率降低50%以上。LEV(4/12)达到了暂时的无癫痫发作(>6个月),PB(3/8),TPM(1/5,仅与PB和硝西epa[NZP]结合使用),和VPA(4/12)。在拉莫三嗪(LTG[2/4])下观察到癫痫发作加重,LEV(1/12),PB(1/8),和VPA(1/12)。生酮饮食(KD)和迷走神经刺激(VNS)减少了两种癫痫发作的频率。首次对NCBRS抗惊厥治疗的全球回顾性分析有助于治疗NCBRS中的癫痫,该NCBRS大多仅显示对抗惊厥治疗的初始反应。尤其是LEV和VPA,但是在这种情况下很少表现出完全的癫痫发作自由,而不是遗传性癫痫。
    Nicolaides-Baraitser syndrome (NCBRS), caused by a mutation in the SMARCA2 gene, which goes along with intellectual disability, congenital malformations, especially of face and limbs, and often difficult-to-treat epilepsy, is surveyed focusing on epilepsy and its treatment. Patients were recruited via \"Network Therapy of Rare Epilepsies (NETRE)\" and an international NCBRS parent support group. Inclusion criterion is NCBRS-defining SMARCA2 mutation. Clinical findings including epilepsy classification, anticonvulsive treatment, electroencephalogram (EEG) findings, and neurodevelopmental outcome were collected with an electronic questionnaire. Inclusion of 25 NCBRS patients with epilepsy in 23 of 25. Overall, 85% of the participants (17/20) reported generalized seizures, the semiology varied widely. EEG showed generalized epileptogenic abnormalities in 53% (9/17), cranial magnetic resonance imaging (cMRI) was mainly inconspicuous. The five most frequently used anticonvulsive drugs were valproic acid (VPA [12/20]), levetiracetam (LEV [12/20]), phenobarbital (PB [8/20]), topiramate (TPM [5/20]), and carbamazepine (CBZ [5/20]). LEV (9/12), PB (6/8), TPM (4/5), and VPA (9/12) reduced the seizures\' frequency in more than 50%. Temporary freedom of seizures (>6 months) was reached with LEV (4/12), PB (3/8), TPM (1/5, only combined with PB and nitrazepam [NZP]), and VPA (4/12). Seizures aggravation was observed under lamotrigine (LTG [2/4]), LEV (1/12), PB (1/8), and VPA (1/12). Ketogenic diet (KD) and vagal nerve stimulation (VNS) reduced seizures\' frequency in one of two each. This first worldwide retrospective analysis of anticonvulsive therapy in NCBRS helps to treat epilepsy in NCBRS that mostly shows only initial response to anticonvulsive therapy, especially with LEV and VPA, but very rarely shows complete freedom of seizures in this, rather genetic than structural epilepsy.
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  • 文章类型: Journal Article
    Pediatric foot polydactyly presents in a wide variety of deformities from single extra digits attached only by a narrow soft-tissue connection to complex central foot duplications with tarsal bone duplication. The goal of surgical reconstruction is a stable, mobile, pain-free foot with five cosmetically appealing toes that allows for normal footwear and painless ambulation. This review covers the incidence, genetics and embryology, classification, presentation and natural history, physical examination, radiographic assessment, and surgical intervention for all types of foot polydactyly.
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  • 文章类型: Case Reports
    Fibular aplasia-tibial campomelia-oligosyndactyly also known as FATCO syndrome is a rare condition characterized by fibular aplasia, shortening and anterior bowing of the lower limb at the tibia with overlying soft tissue dimpling and oligosyndactyly. Its etiology is currently unknown, but there is a male predominance. There are less than 30 cases reported in the literature but only three with prenatal diagnosis. We report two cases of FATCO syndrome with prenatal lower limb malformation diagnosis. Identification of the ultrasound findings of this condition in the prenatal stages allows an adequate parental counselling regarding the clinical features, prognosis, and potential treatments.
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  • 文章类型: Journal Article
    Cutis marmorata telangiectatica congenita (CMTC) is a rare capillary malformation characterised by persistent reticulated marbled erythema. It tends to be associated with cutaneous atrophy, ulcerations and body asymmetry. CMTC is usually reported to be a benign condition; however, associated anomalies are not rare. Here, we have compiled information on published CMTC patients with the aim to evaluate the proposed diagnostic criteria by Kienast et al. and address the clinical manifestations, associated anomalies, differential diagnoses, management and prognosis. Our review is based on a search of the PubMed database which retrieved studies between 1922 and April 2019. The search yielded 148 original articles with a total of 485 patients.
    Of the identified patients, 24.5% had generalised CMTC, 66.8% had localised and 8.7% had a non-specified distribution of CMTC. Associated anomalies were observed in 42.5% of patients, predominantly body asymmetry and neurological defects like seizure and developmental delay. Fewer patients (10.1%) had ophthalmological defects, usually glaucoma. The major criterium \"absence of venectasia\" was not met in 20.4% of patients.
    We suggest that children with CMTC should be referred to an ophthalmologist for regular follow-up, and children with CMTC affecting the legs should be monitored for leg length discrepancy throughout the growth period. Furthermore, we suggest reconsideration of the major criterium \"absence of venectasia\" from the proposed diagnostic criteria, and instead include body asymmetry.
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