fibular hemimelia

  • DOI:
    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.
    导出

    更多引用

    收藏

    翻译标题摘要

    我要上传

       PDF(Pubmed)

  • 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.
    导出

    更多引用

    收藏

    翻译标题摘要

    我要上传

       PDF(Pubmed)

  • 文章类型: Journal Article
    Congenital limb deficiencies are common birth defects occurring in 1 in 2000 neonates, characterized by the aplasia or hypoplasia of bones of the limbs. Fibular hemimelia is a rare congenital deficiency or absence of the fibula. The disease spectrum ranges from mild fibular hypoplasia to fibular aplasia. Fibular aplasia, tibial campomelia, and oligosyndactyly (FATCO syndrome) are purely descriptive terms for a syndrome of unknown genetic basis and inheritance. We report on a newborn female with malformations consisting of fibular hypoplasia, tibial campomelia, and oligosyndactyly, a second FATCO variant case. We also review previously reported cases. Given the paucity of reports on this rare syndrome and the lack of a standardized treatment approach, it is important that each case of FATCO syndrome is reported.
    导出

    更多引用

    收藏

    翻译标题摘要

    我要上传

       PDF(Pubmed)

  • 文章类型: Case Reports
    The word aplasia/hypoplasia is used for partial or total absence of a bone. Fibula, a lower limb bone is one of the most common to be involved with this and its incidence is amongst the highest in long bone deficiencies. FATCO syndrome consisting of fibular aplasia, tibial campomelia and oligosyndactyly has been described in the literature but only one has been reported from India as per our literature review. However, it is important to know multiple regional involvement can occur along with this syndrome and prove to be a major difficulty for the child and the parents both. Due to the rarity of reports on this rare syndrome and difficulty in treatment it is important that each such case should be described to make the management easier.
    导出

    更多引用

    收藏

    翻译标题摘要

    我要上传

       PDF(Sci-hub)

  • 文章类型: Case Reports
    一名17岁的双侧球窝脚踝女孩报告了左内侧足跟疼痛。她的左脚跟在tip起脚尖时出现了内翻位置,当恢复正常站立时,发生了痛苦的碰撞。在进行物理治疗和矫形器治疗后,杂音仍然存在。距下关节镜和腓骨肌腱镜检查显示踝关节轻度弥漫性滑膜炎,尤其是在后囊上,距下关节后外侧角有一块发炎和纤维化的滑膜。关节镜滑膜切除术后,结块立即消退,在5年的随访中没有复发。我们没有发现其他报道的球窝踝关节患者发生踝关节和距下滑膜炎的病例。
    A 17-year-old girl with bilateral ball-and-socket ankles reported left medial heel pain. Her left heel had gone into a varus position on tiptoeing, and a painful clunk had occurred when returning to normal standing. The clunk persisted after physiotherapy and treatment with an orthosis. Subtalar arthroscopy and peroneal tendoscopy showed mild diffuse synovitis of the ankle joint, especially over the posterior capsule, and a patch of inflamed and fibrotic synovium at the posterolateral corner of the subtalar joint. The clunk subsided immediately after arthroscopic synovectomy and had not recurred during 5 years of follow-up. We found no other reported cases of ankle and subtalar synovitis occurring in patients with a ball-and-socket ankle joint.
    导出

    更多引用

    收藏

    翻译标题摘要

    我要上传

       PDF(Sci-hub)

公众号