fibular hemimelia

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    文章类型: Journal Article
    腓骨半位症是最常见的先天性长骨缺陷。它通常与股骨和胫骨缺陷有关,导致临床上明显的腿部长度差异。主要的软组织问题是ACL/PCL缺陷。如果治疗包括骨延长,关节稳定是避免并发症的当务之急。在这项研究中,我们详细介绍了一种用于长骨延长和ACL重建的新技术,有凝聚力的手术。这巩固了对多个程序的需求,并为该患者群体提供了改善的肢体长度对称性和膝盖稳定性。介绍了使用PRECICE®钉进行股骨或胫骨延长术并伴随ACL重建的儿童半球症患者的临床结果。
    经IRB批准,我们确定了5例复杂性腓骨半角症患者,他们接受了ACL重建术和同时延长术,并进行了至少2年的随访.两名患者(40%)表现为先天性股骨短,和三个(60%)先天性胫骨短。在每种情况下,通过PRECICE®钉进行ACL重建和股骨或胫骨引导生长。详细描述了涉及软组织和骨方法的手术技术。
    经评估,所有患者的膝关节稳定性均有客观改善,以及成功的髓间延长,没有与关节稳定性相关的并发症。三名患者出现了与关节稳定性无关的轻微并发症,但不会干扰总体结果。
    与骨和软组织结构发育不全相关的腓骨半位症可以在植入延长装置时通过同时进行韧带重建来成功解决。这解决了膝盖不稳定,并减少了手术次数和与关节不稳定相关的潜在并发症,同时追求骨延长。证据级别:V.
    UNASSIGNED: Fibular hemimelia is the most common congenital long bone deficiency. It is often associated with femoral and tibial deficiencies which result in a clinically evident leg length discrepancy. The primary soft tissue concern is ACL/PCL deficiency. If treatment includes bony lengthening, joint stability is imperative to avoid complications. In this study, we detail a novel technique for long bone lengthening and ACL reconstruction in a single, cohesive surgery. This consolidates the need for multiple procedures and offers improved limb length symmetry and knee stability for this patient population. Clinical outcomes of pediatric patients with hemimelia who underwent either femoral or tibial lengthening with PRECICE® nail and concomitant ACL reconstruction are presented.
    UNASSIGNED: After IRB approval, we identified five patients with complex fibular hemimelia who underwent ACL reconstruction and concomitant lengthening with at least two years of follow-up. Two patients (40%) presented with congenital short femur, and three (60%) with congenital short tibia. In each case, ACL reconstruction and either femoral or tibial guided growth via PRECICE® nail were performed. Operative techniques involving both soft tissue and bony methodology are described in detail.
    UNASSIGNED: All patients had objective improvement in knee stability as assessed both intra and post operatively, as well as successful intermedullary lengthening without complications related to joint stability. Three patients had minor complications unrelated to joint stability that did not interfere with overall result.
    UNASSIGNED: Fibular hemimelia associated with hypoplasia of bony and soft tissue structures can be successfully addressed with concomitant ligamentous reconstruction at the time of implantation of lengthening devices. This addresses knee instability and reduces both number of operative procedures and potential complications related to joint instability while pursuing bony lengthening. Level of Evidence: V.
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  • 文章类型: Journal Article
    目的:腓骨偏骨的治疗包括有或没有合适的截肢或胫骨延长术的假肢护理。许多研究都证明了这两种方法的成功。这些孩子的大多数父母拒绝截肢或无法获得良好的假肢护理。作者提出了一种具有胫骨延长和踝关节稳定的保肢手术。
    方法:12例有14个四肢的腓骨偏侧儿童在腿外侧松解术后接受了肢体延长。为了纠正外翻,在11个四肢进行了胫骨双斜骨干截骨(DODO)。患者的年龄范围为2至15岁,中位数为5岁。都是男性。拟议的程序包括三个松开阶段,加长,并在后期进行踝关节固定术。
    结果:所有患者在最初的四年中都返回了随访,并且一直在行走。使用DODO,然后进行固定器/牵引可以同时拉直和延长胫骨,并纠正外翻。踝关节稳定提供了稳定性和平足。据报道,随访时间为6至30年,中位数为10年。
    结论:一种新的松动程序,加长,并提出了通过踝关节固定术稳定腿部。据报道,随访时间为30年,中位时间为10年。该程序提供了具有感觉和本体感觉的持久平坦且无痛的足部。不建议任何级别的截肢。
    OBJECTIVE: Management of fibular hemimelia includes either prosthetic care with or without a suitable amputation or tibial lengthening. Many studies have documented the success of both procedures. Most parents of these children refuse an amputation or have no access to good prosthetic care. The author presents a limb-salvage procedure with tibial lengthening and ankle stabilization.
    METHODS: Twelve children of fibular hemimelia with 14 extremities had been subjected to limb lengthening after lateral leg release. To correct the valgus procurvatum, double oblique diaphyseal osteotomy (DODO) of the tibia was performed in 11 extremities. The age of the patients ranged from two to 15 years with the median of five years. All were male. The proposed procedure included three stages of loosening, lengthening, and stabilization with ankle arthrodesis at a later stage.
    RESULTS: All patients returned for follow-up for the first four years and had been walking on their sensate feet. With DODO followed by fixator/traction could straighten and lengthen the tibia simultaneously and correct the valgus procurvatum. Ankle stabilization provided stability and a plantigrade foot. A follow-up of six to 30 years with a median of ten years has been reported.
    CONCLUSIONS: A new procedure of loosening, lengthening, and stabilization of the leg with ankle arthrodesis has been proposed. A follow-up of 30 years with a median of ten years of the said procedure has been reported. The procedure provides a long-lasting plantigrade and painless foot that has sensation and proprioception. An amputation at any level has not been recommended.
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  • 文章类型: Journal Article
    背景:腓骨半位症(FH)是最常见的纵向肢体缺陷。当与股骨缩短相关时,显著的肢体长度差异(LLD)将需要长的治疗时间和多个设置以补偿LLD。这项研究评估了使用Ilizarov框架同时延长股骨和胫骨的结果。
    方法:这项回顾性研究包括2015年5月至2022年8月12例因FH和同侧股骨缩短而导致严重肢体长度差异的儿童。总LLD范围为7至14.5cm。所有患者均使用Ilizarov环外固定器技术进行了一次股骨和胫骨延长术。其他程序在相同的设置进行,包括跟腱延长,腓骨切除,腓骨肌腱延长,和髂胫带释放。随访2至4年。
    结果:10例(83%)实现了计划的肢体延长。没有遇到关节半脱位或脱位的病例。治疗过程中无神经血管损伤发生。在所有情况下,股骨侧的骨愈合指数优于胫骨。2例(16.6%)发生胫骨再生不良和畸形。
    结论:使用Ilizarov固定器同时延长股骨和胫骨是一种相对安全的手术,其结果是在较短的时间内纠正一次总LLD,发病率较低。
    BACKGROUND: Fibular Hemimelia (FH) is the most common longitudinal limb deficiency. Significant limb length discrepancy (LLD) will necessitate long treatment times and multiple settings to compensate for LLD when associated with femoral shortening. This study evaluates the outcome of simultaneous femoral and tibial lengthening using the Ilizarov frame.
    METHODS: This retrospective study included the cases of 12 children with severe limb length discrepancy caused by combined FH and ipsilateral femoral shortening from May 2015 to August 2022. The total LLD ranged from 7 to 14.5 cm. All patients underwent single-session femoral and tibial lengthening using the Ilizarov ring external fixator technique. Additional procedures were performed in the same setting, including Achilles tendon lengthening, fibular anlage excision, peroneal tendons lengthening, and iliotibial band release. Follow-up ranged from 2 to 4 years.
    RESULTS: The planned limb lengthening was achieved in ten cases (83%). No cases of joint subluxation or dislocation were encountered. No neurovascular injury has occurred during the treatment course. In all cases, the bone healing index was better on the femoral side than on the tibia. Poor regeneration and deformity of the tibia occurred in two cases (16.6%).
    CONCLUSIONS: Simultaneous femoral and tibial lengthening using the Ilizarov fixator is a relatively safe procedure with the result of correction of total LLD in one session in a shorter time and less morbidity.
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  • 文章类型: Journal Article
    并发症在Ilizarov方法治疗下肢先天性或获得性畸形中很常见。获得的结果在特定患者组中有所不同。在这项研究中,将16岁之前发育的畸形与该年龄之后发育的畸形进行比较,无论病因是什么类型,就获得的结果而言,治疗持续时间和遇到的并发症。
    由同一外科医生治疗的平均9.5(7.5-18)年随访的53例骨畸形根据畸形发病年龄分为2组。定义了患者的人口统计学和畸形特征,治疗次数,骨愈合指数,合并/修正率,遇到的问题和获得的结果进行了回顾性比较。将结果与ASAMI功能和骨评分进行比较。根据Paley对并发症进行评级,并计算组间的相对风险增加。
    其中26例为男性,22例为女性。平均年龄为26.47(7-57)。39例患者的平均畸形为23.98°(7-60),平均矮小为38.65(10-110)mm。83%的患者机械轴偏差得到纠正。发育组延长指数为54.13天/cm,成人为63.69天/cm。发育年龄的巩固/矫正率为2.54,成人为2.4(p=0.698)。在遇到的问题方面,风险增加了1.02倍,2为障碍,每例并发症3倍,总困难1.34倍,根据佩利。在发育组中,在固定器中的停留时间较高(p=0.023)。在成人组中,ASAM的功能(p=0.000148)和解剖学(p=0.000242)评分较好。
    下肢先天性或获得性畸形可通过Ilizarov方法治疗,效果满意。早期畸形的发展使治疗变得困难。虽然该组患者的骨愈合指数较低,通常有较高的短促,治疗时间通常长于成人畸形;并发症更频繁和严重。功能和解剖学结果更不成功。
    UNASSIGNED: Complications are common in the treatment of lower extremity congenital or acquired deformities by Ilizarov method. The results to be obtained vary in specific patient groups. In this study, deformities who developed before the age of 16 were compared with those developed after this age regardless of the type of aetiology, in terms of results obtained, treatment durations and complications encountered.
    UNASSIGNED: 53 bone deformities with an average of 9.5 (7.5-18) years of follow-up treated by the same surgeon were divided into 2 groups according to the age of deformity onset. Demographics and deformity characteristics of patients were defined, treatment times, bone healing indexes, consolidation/correction rates, problems encountered and results obtained were compared retrospectively. The results were compared with ASAMI functional and bone scoring. Complications were rated according to Paley and relative risk increases between groups were calculated.
    UNASSIGNED: 26 of the patients were men and 22 were women. The average age was 26.47 (7-57). The mean deformity was 23.98° (7-60) and the mean shortness in 39 patients was 38.65 (10-110)mm. Mechanical axis deviation was corrected in 83% of patients. The Lengthening index was 54.13days/cm in the development group and 63.69 days/cm in adults. Consolidation/correction rate was 2.54 in developmental age and 2.4 (p=0.698) in adults. The risk increased by 1.02 times in terms of problems encountered, 2 for obstacles, 3 times in complications and 1.34 times in total difficulties per case, according to Paley. The duration of stay in the fixator was higher in developmental group (p=0.023). ASAMİ functional (p=0.000148) and anatomical (p=0.000242) scores were better in the adult group.
    UNASSIGNED: Congenital or acquired deformities in the lower extremity can be treated with satisfactory results by Ilizarov method. The development of deformity at an early age makes treatment difficult. Although the bone healing index is lower in this group of patients, which usually has a higher amount of shortness, the treatment is usually longer than that of adult deformities; complications are more frequent and serious. Functional and anatomical results are more unsuccessful.
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  • 文章类型: Journal Article
    介绍足部少指通常与腓骨功能不全或裂足综合征有关。射线数量减少的脚偶尔可能会有孤立的发育不良。方法我们回顾了6例少指畸形患儿的临床记录和X线,胫骨和腓骨发育正常。临床评估记录足足或偏足,适当的鞋子磨损,和赤脚儿童的美学表现。放射学检查发现脚骨缺失或发育不良,其他畸形的存在,和患肢的腿长差异(LLD)。结果在临床评估上,除一名儿童外,所有儿童的足部均为平足,穿鞋正常;除非被告知存在发育不良,否则其中三名儿童未发现病变.其中四人的放射学检查显示舟骨不存在或发育不全,具有正常的第一跖骨形状。其中5个跟骨关节正常;LLD是三个孩子的主要问题。双边寡头的女孩表现为正常的孩子。结论寡照体可能表现为孤立的发育不良。这些患者的LLD,不如腓骨或胫骨功能不全的儿童严重,是以后生活中需要手术管理的主要问题。产前诊断为孤立的发育不良是父母适当咨询的重要特征。
    Introduction Foot oligodactyly is usually associated with fibular insufficiency or cleft foot syndrome. A foot with a reduced number of rays may occasionally have an isolated dysplasia. Methods We reviewed the clinical notes and X-rays of six children with oligodactyly, having a normal development of the tibia and fibula. Clinical evaluation recorded the plantigrade or deviated foot, appropriate shoe wear, and aesthetic presentation of barefoot children. Radiological examination revealed missing or hypoplastic bones in the foot, the presence of other deformities, and leg length discrepancy (LLD) of the affected limb. Results On clinical evaluation, all children except one had a plantigrade foot with normal shoe wear; the lesion was not spotted in three of them unless informed of the presence of the dysplasia. Radiological examination in four of them revealed the absence or hypoplasia of the navicular, with a normal shape of the first metatarsal. Calcaneocuboid joints were normal in five of them; LLD was the main problem in three children. The girl with bilateral oligodactyly presented as a normal child. Conclusion Oligodactyly may present as an isolated dysplasia. LLD in these patients, which is less severe than in children with fibular or tibial insufficiency, is the main issue that requires surgical management in later life. Prenatal diagnosis of oligodactyly as an isolated dysplasia is an important feature for appropriate counseling of parents.
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  • 文章类型: Journal Article
    在骨延长和重建期间和之后,临床上显然需要有效的物理治疗和康复计划,以获得最佳效果以及预防或治疗延长副作用。针道感染是延长过程中最普遍的副作用,最初可以通过适当的伤口护理来预防和治疗。肌肉挛缩通常是在被牵张的肌肉上产生的张力的结果。最初可以通过物理治疗进行管理,在严重的后期可以通过手术进行管理。此外,避免肌肉挛缩的发展是必不可少的,这是关节上不平衡的肌肉吸引力的表现,以抑制随后的半脱位。由于固有的缺乏韧带和骨稳定性,膝盖是受上述问题影响最大的关节。接头刚度是延长的另一个可能的不利影响。它是由于广泛的肌肉挛缩而发生的,或者可能归因于在延长过程中关节表面上的压力增大后关节的刚性。物理治疗和职业治疗,包括耐力和力量锻炼以及拉伸在康复期间发挥重要作用,用于预防和治疗肌肉挛缩和随后的畸形以及关节僵硬。同样,精神和身体康复计划的效果不容忽视。
    There is a clear clinical need for efficient physiotherapy and rehabilitation programs during and after bone lengthening and reconstruction for gaining the optimal effect and also prevention or treatment of lengthening side effects. Pin tract infection is the most prevalent side effect during lengthening which could be prevented and treated initially via proper wound care. Muscle contractures are typically a consequence of the generated tension on the distracted muscle. It can be managed by physiotherapy initially and surgically in later severe stages. Furthermore, it is essential to avoid muscle contracture development, which is the demonstration of the imbalanced muscle appeals on the joint to inhibit the following subluxation. The knee is the furthermost affected joint by the aforementioned problem due to the inherent lack of ligamentous and bony stability. Joint stiffness is the other possible unfavorable effect of lengthening. It happens because of extensive muscle contractures or may possibly be attributed to rigidity of the joint following the amplified pressure on the joint surface during the process of lengthening. Physiotherapy and occupational therapy including endurance and strength exercise as well as stretching play an important role during the rehabilitation periods for the prevention and also the treatment of muscle contracture and the following deformity and also joint stiffness. Likewise, the effect of mental and physical rehabilitation programs should not be overlooked.
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  • 文章类型: Case Reports
    腓骨发育不全综合征,胫骨尖顶,而寡交综合征(FATCO综合征)是一种罕见的遗传病,在过去40年中被越来越多地报道。我们报告了一名新生儿,其单侧骨骼异常在临床和放射学上都很明显。这个婴儿是一个糖尿病母亲的婴儿,埃及父母有很强的遗传性疾病和先天性异常家族史。除了描述这种综合征的新病例报告,我们强调产前诊断和遗传咨询的重要性,特别是对于发展中国家遗传疾病高危家庭。
    The syndrome of fibular aplasia, tibial campomelia, and oligosyndactyly (FATCO syndrome) is a rare genetic disease that has been increasingly reported over the past 40 years. We report the case of a newborn boy with unilateral skeletal abnormalities that were evident clinically and radiologically. The baby was an infant of a diabetic mother, and the Egyptian parents were consanguineous with a strong family history of genetic diseases and congenital anomalies. Besides describing a new case report of this syndrome, we emphasize the importance of prenatal diagnosis and genetic counseling, especially for families at high risk for genetic diseases in developing countries.
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  • 文章类型: Journal Article
    Fibular hemimelia (FH) presents with foot and ankle deformity and leg length discrepancy. Many historic reconstructions have resulted in poor outcomes. This report reviews modern classification and reconstruction methods. The Paley SHORDT procedure (SHortening Osteotomy Realignment Distal Tibia) is designed to correct dynamic valgus deformity. The Paley SUPERankle procedure (Systematic Utilitarian Procedure for Extremity Reconstruction) is designed to correct fixed equino-valgus foot deformity. The leg length discrepancy in FH is successfully treated with serial lengthening and epiphysiodesis. Implantable intramedullary lengthening devices have led to all internal lengthenings. Recent advancements in techniques and implants in extramedullary implantable limb lengthening (EMILL) have allowed internal lengthenings in younger and smaller patients, who would traditionally require external fixation. These new internal techniques with lengthenings of up to 5 cm can be repeated more easily and frequently than external fixation, reducing the need to achieve larger single-stage lengthenings (e.g., 8 cm). Modern reconstruction methods with lengthening are able to achieve limb length equalization with a plantigrade-stable foot, resulting in excellent functional result comparable or better than a Syme\'s amputation with prosthetic fitting.
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  • 文章类型: Journal Article
    UNASSIGNED: Longitudinal fibular deficiency (LFD) is the most common congenital long bone deficiency. This study aimed to objectively assess the physical performance of children and adolescents with LFD compared with unaffected peers, and to examine trends over age for subgroups of the LFD population.
    UNASSIGNED: Differences between children with LFD and unaffected peers were examined with hand-held dynamometry for lower-limb muscle strength, Six-Minute Walk Test, Timed up and down stairs test, Star Excursion Balance Test, and Standing long jump.
    UNASSIGNED: Thirty-nine children with LFD and 284 unaffected peers participated. Children with LFD performed at a lower level than their unaffected peers, on all measures of physical performance (mean 2.1 z-scores lower, all p < 0.01), except in long jump (p = 0.27). When comparing the performance of children with LFD to their unaffected peers across four age groups, there was a significant between-groups difference on all strength measures, and on the Six-Minute Walk distance, between children with and without LFD. These differences were smallest in young children (3-6 years) and largest in the older children (15-18 years) (all p < 0.01). Children with no lengthening surgery performed better on the Six-Minute Walk Test, covering a greater distance during the test, than those who had surgery (mean difference 83 metres, p < 0.01). There were no significant differences between children who had or had not undergone an amputation.
    UNASSIGNED: Children with LFD performed at a significantly lower level than unaffected peers on all measures of physical performance other than jumping. The largest differences were in older children. This paper provides baseline functional data for future interventions in LFD.
    UNASSIGNED: Cross-sectional study.Implications for RehabilitationThis paper provides the first baseline functional data using validated objective measures on a consecutive cohort of children and adolescents with longitudinal fibular deficiency.Children with LFD performed significantly worse than their unaffected peers on all measures of physical performance other than jumping, with children falling further behind their peers as they age.Children who undergo an amputation typically have the most severe anatomical presentation and yet perform at an equivalent functional level.This paper identifies multiple modifiable impairments that represent potential opportunities for rehabilitation professionals to target with conservative treatment options to improve functional performance.
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  • 文章类型: Case Reports
    Meromelia是指至少一个肢体的部分缺失,也称为“末端横向半球症”。“它可以孤立地发生,也可以与其他先天性畸形一起发生。文献中很少有出版物报道伴有其他先天性异常的meromelia病例。近端局灶性股骨缺陷是另一种罕见的先天性骨骼异常,其特征是股骨近端发育不足和整个下肢缩短。先前已报道一例新生儿上肢小脑伴近端局灶性股骨缺损和腓骨偏侧。然而,根据我们的知识,迄今为止,从未报道过上肢磨牙与跖骨间联合的关联。这里,我们介绍了一名成年患者,表现出多种罕见的先天性骨骼异常的异常关联,包括子粒,近端局灶性股骨缺陷,腓骨半膜,和椎间联盟。
    Meromelia refers to the partial absence of at least 1 limb and is also referred to as \"terminal transverse hemimelia.\" It can occur in either isolation or with other congenital malformations. There are very few publications in the literature that report meromelia cases accompanied by other congenital anomalies. Proximal focal femoral deficiency is another rare congenital skeletal abnormality and is characterized by the underdevelopment of the proximal part of the femur and shortening of the entire lower extremity. A case of upper limb meromelia accompanied by proximal focal femoral deficiency and fibular hemimelia in a neonate has previously been reported. However, to our knowledge, the association of upper limb meromelia with intermetatarsal coalition has never been reported to date. Here, we present an adult patient showing an unusual association of multiple rare congenital skeletal abnormalities including meromelia, proximal focal femoral deficiency, fibular hemimelia, and intermetatarsal coalition.
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