Genu Valgum

Genu Valgum
  • 文章类型: Case Reports
    威尔逊病是一种常染色体隐性遗传病,其中过量的铜积聚在体内,尤其是在肝脏,大脑,和眼睛。它是由染色体13上的ATP7B基因突变引起的。在25-30%的患者中,关节受累发生在疾病的后期;骨关节炎是最常见的表现。滑膜软骨瘤病(SC)是一种良性上皮化生,发生在滑膜中,导致关节内松散体(LB)的形成。但其在Wilson病患者中的发生尚未在医学文献中报道。
    一位30多岁的年轻男性,在d-青霉胺维持治疗下诊断为威尔逊病的病例,锌,Trientine,和锂在膝关节运动受限和外翻畸形的情况下被送到医院。检查显示坚硬的球状肿胀,部分在膝关节周围移动。磁共振成像(MRI)发现提示SC,此后患者接受了矫正手术,清创和LB切除,组织病理学报告证实了诊断。在12周时对患者进行了随访,发现其运动无痛且支持最少。发现他的24小时尿铜排泄在正常范围内,并且他的维持治疗得到了优化。该患者因在社交和个人生活中对言语和精神咨询的持续含糊不清而开始接受言语治疗。建议患者进行6个月的随访。
    该病例总结了Wilson病患者中SC与genuvalgum的独特表现,因此值得医生和骨科医生以及骨关节炎的敏锐关注;这在Wilson病中已被广泛报道,从而为早期矫正外翻畸形提供了机会。
    UNASSIGNED: Wilson\'s disease is an autosomal recessive condition where excessive amount of copper accumulates in the body, especially in the liver, brain, and eyes. It is caused by a mutation in the ATP7B gene on chromosome 13. In 25-30% of patients, joint involvement occurs at the later course of disease; osteoarthritis being the commonest manifestation. Synovial chondromatosis (SC) is a benign metaplasia which occurs in the synovial membrane and it results in the formation of intra-articular loose bodies (LB), but its occurrence in a patient of Wilson\'s disease has not yet been reported in medical literature.
    UNASSIGNED: A young male in his 30s, a diagnosed case of Wilson\'s disease on maintenance therapy of d-penicillamine, zinc, trientine, and lithium presented to the hospital with restriction of movement at the knee joints and a valgus deformity. Examination showed firm to hard globular swellings which were partly mobile around the knee joint. The Magnetic Resonance Imaging (MRI) findings were suggestive of a SC after which the patient underwent corrective surgery and debridement and removal of the LB and a histopathology report confirmed the diagnosis. The patient was followed up at 12 weeks and was found to have pain-free movements with minimal support. His 24-h urinary copper excretion was found to be within normal limits and his maintenance therapy was optimized. The patient was initiated on speech therapy for his persistent slurring of speech and psychiatric counseling for rehabilitation in social and personal life. The patient was advised for 6 monthly follow-up.
    UNASSIGNED: This case summarizes the unique presentation of SC with genu valgum in a patient of Wilson\'s disease and hence warrants a keen eye for the physician and orthopedician alongside osteoarthritis; which has been widely reported in Wilson\'s disease, thus providing an opportunity for early correction of valgus deformity of the subject.
    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
    由于持续的骨骼生长和发育,小儿骨科疾病提出了独特的挑战。管理这些案件需要解决结构异常和功能缺陷。
    本病例报告讨论了一名13岁男性因体力活动而反复发作的左膝疼痛。患者1.5岁时有左膝感染史,可能是脓毒性关节炎或骨髓炎,强调早期病理对骨骼生长和对齐的长期后果。影像学检查显示股骨远端外侧骨physisbar和genuvalgum,需要手术干预。
    该手术包括股骨远端内侧半表皮固定术和股骨远端外侧棒切除术,以纠正解剖畸形并恢复最佳的肢体对齐和功能。术后康复,包括有针对性的锻炼,以提高股四头肌的力量,对于功能恢复和降低内侧髌股疼痛等并发症的风险至关重要。
    该案例强调了多学科方法在处理复杂的儿科骨科病例中的重要性。
    UNASSIGNED: Pediatric orthopedic conditions present unique challenges due to ongoing skeletal growth and development. Managing these cases requires addressing both structural anomalies and functional deficits.
    UNASSIGNED: This case report discusses a 13-year-old male with recurrent left knee pain exacerbated by physical activity. The patient\'s history of a left knee infection at 1.5 years of age, possibly septic arthritis or osteomyelitis, underscores the long-term consequences of early pathology on skeletal growth and alignment. Imaging studies revealed a distal lateral femur physis bar and genu valgum, necessitating surgical intervention.
    UNASSIGNED: The surgery involved medial distal femur hemiepiphysiodesis and lateral distal femur bar excision to correct anatomical deformities and restore optimal limb alignment and function. Postoperative rehabilitation, including targeted exercises to improve quadriceps strength, was crucial for functional recovery and reducing the risk of complications such as medial patellofemoral pain.
    UNASSIGNED: This case highlights the importance of a multidisciplinary approach in managing complex pediatric orthopedic cases.
    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
    使用临时半表皮固定术(TH)校正冠状面畸形后反弹的预测因子尚未明确。测试了以下研究问题:(1)动态膝关节负荷对提高回弹预测准确性是否有用?(2)大的初始畸形在回弹发展中起关键作用吗?(3)BMI和年轻年龄是否有反弹的危险因素?包括50名特发性膝关节外翻畸形的儿童和青少年。选择在外植体和一年随访期之间,外翻的机械股腿角(MFA)偏差≥3°,以对反弹进行分类。在50例患者中,有22例(44%)出现反弹。确定了两个反弹的预测因子:1.外植体前半个站姿阶段外侧膝关节接触力峰值降低(预测值为72.7%);2.根据MFA的轻微初始畸形(70.5%预测)。通过在二元逻辑回归方法中包括两个参数,可以获得最佳预测(75%)。对于腿轴较小的初始畸形的患者,不应建议使用TH。使用步态分析和肌肉骨骼建模的动态膝关节负荷可用于确定移除板的最佳时间。
    Predictors of rebound after correction of coronal plane deformities using temporary hemiepiphysiodesis (TH) are not well defined. The following research questions were tested: (1) Is the dynamic knee joint load useful to improve rebound prediction accuracy? (2) Does a large initial deformity play a critical role in rebound development? (3) Are BMI and a young age risk factors for rebound? Fifty children and adolescents with idiopathic knee valgus malalignment were included. A deviation of the mechanical femorotibial angle (MFA) of ≥ 3° into valgus between explantation and the one-year follow-up period was chosen to classify a rebound. A rebound was detected in 22 of the 50 patients (44%). Two predictors of rebound were identified: 1. reduced peak lateral knee joint contact force in the first half of the stance phase at the time of explantation (72.7% prediction); 2. minor initial deformity according to the MFA (70.5% prediction). The best prediction (75%) was obtained by including both parameters in the binary logistic regression method. A TH should not be advised in patients with a minor initial deformity of the leg axis. Dynamic knee joint loading using gait analysis and musculoskeletal modeling can be used to determine the optimum time to remove the plates.
    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
    两种基本方法是截骨术和内固定或外固定器辅助矫正。外部固定器具有在截骨术之前稳定碎片的优点,从而允许更好地控制碎片并防止二次移位。这项研究的目的是评估固定器辅助矫正术和内固定的疗效和并发症。采用AO股骨远端小儿截骨板。
    26例患者(年龄10-16岁)的36条肢体在CORA时进行了股骨远端截骨术。进行了开放的外侧楔形截骨术;通过将销钉与AO外部固定器连接来暂时稳定所需的位置,并用90度AO股骨远端小儿锁定板和用羟基磷灰石骨颗粒移植的间隙进行稳定。
    17例截骨术(53.12%)需要远端碎片的翻译。截骨术在12周内联合;没有观察到不愈合。所有患者的活动范围都很满。平均胫股角校正12度,平均机械LDFA校正87度。没有继发性畸形,在旋转平面或矢状平面中。
    该方法结合了外固定器的模块化和内固定的优点。
    UNASSIGNED: Two basic methods for genu valgum correction are osteotomy and internal fixation or external fixator assited correction. External fixators have the advantage of stabilizing fragments before osteotomy allowing better control of fragments and preventing secondary displacements. The purpose of this study was to evaluate the efficacy and complications of fixator assisted correction for genu valgum and internal fixation, using the AO distal femur pediatric osteotomy plate.
    UNASSIGNED: Thirty-six limbs in 26 patients (age 10-16 years) underwent osteotomy in the distal femur at CORA. Open lateral wedge osteotomy was done; the desired position obtained was temporarily stabilized by connecting the pins with the AO external fixator and stabilized with 90 degrees AO distal femur pediatric locking plate and gap grafted with hydroxyapatite bone granules.
    UNASSIGNED: Translation of distal fragment was required in 17 osteotomies (53.12%). Osteotomies united within 12 weeks; no non-union was observed. The range of motion was full in all patients. The mean tibiofemoral angle was corrected by 12 degrees and the mean mechanical LDFA was corrected to 87 degrees. There was no secondary deformity, either in the rotational or sagittal plane.
    UNASSIGNED: This method combines the modularity of external fixator and the advantages of internal fixation.
    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
    OBJECTIVE: To evaluate the efficacy and safety of sliding osteotomy of the lateral epicondyle in correcting rigid valgus deformity in knee arthroplasty.
    METHODS: A retrospective study of patients undergoing total knee arthroplasty with lateral epicondyle sliding osteotomy between 2006 and 2018. The main outcome was the incidence of complications and adverse events. Secondary outcomes were Visual Analog Scale for Pain, varus stress test, and varus knee thrust during gait.
    RESULTS: 19 knees (19 participants) were included in the study. The mean follow-up was 4.2 years. There were no cases of infection or reoperation due to instability. Two participants (10.5%) had mild or moderate knee pain (VAS pain = 4.6 ± 1.9). Two arthroplasties (10.5%) had mild varus stress. No participant presented varus thrust.
    CONCLUSIONS: Sliding osteotomy of the lateral epicondyle allows fast and safe ligament balance of knee valgus deformities. Level of Evidence I, Case series.
    Avaliar a eficácia e a segurança da osteotomia de deslizamento do epicôndilo lateral na correção da deformidade em valgo rígida na artroplastia de joelho. Métodos: Estudo retrospectivo de pacientes submetidos à artroplastia total do joelho com osteotomia de deslizamento do epicôndilo lateral entre 2006 e 2018. O principal desfecho foi a incidência de complicações e eventos adversos. Os desfechos secundários foram escala visual analógica para dor, teste de estresse em varo e flambagem em varo do joelho durante a marcha. Resultados: Foram incluídos no estudo 19 joelhos (19 participantes). O seguimento médio foi de 4,2 anos. Não houve nenhum caso de infecção ou reoperação devido à instabilidade. Dois participantes (10,5%) apresentaram algum tipo de dor leve ou moderada no joelho (EVA = 4,6 ± 1,9). Duas artroplastias (10,5%) apresentaram estresse em varo leve. Nenhum participante apresentou flambagem em varo. Conclusão: A osteotomia de deslizamento do epicôndilo lateral possibilitou o balanço ligamentar das deformidades em valgo do joelho de forma rápida e segura. Nível de Evidência IV, Série de Casos.
    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
    背景:骨骼未成熟患者的骨缺损的大型假体重建导致了成年患者队列中未观察到的独特并发症和继发性畸形的发展。随着越来越多的大型假体置换,骨科肿瘤学家在继发性畸形的发生率和类型方面仍有经验。在这项研究中,我们报告发病率,股骨近端巨型假体重建后两个继发性畸形的可能原因和治疗结果:髋关节发育不良和先天性畸形。
    方法:回顾性分析14例患者在2018年至2022年之间进行了一次和/或重复的股骨近端假体置换重建/手术。
    结果:患者平均年龄为9.1岁(范围4-17岁)。在71.4%中观察到应力屏蔽。髋关节脱位是最常见的并发症(50%)。虽然发生了四次脱位,但没有潜在的畸形,在58.3%(n=7/12)的关节内切除和重建中发现继发性髋关节发育不良,导致71.4%的位错(n=5/7)。在41.6%(n=5/12)中观察到了一般性畸形。继发性髋关节发育不良和并发性的发生率为42.9%(n=3/7)。骨盆三路截骨术导致髋部反跳发育不良2例(年龄<10岁),而髋臼窝置换术在随访过程中导致髋关节稳定。应用临时半生肺固定术来解决继发性疾病。
    结论:在本研究中,年龄<10岁的患者在股骨近端置换术后容易发生继发性髋关节发育不良和关节型病变。继发性畸形的管理应取决于剩余的骨骼生长。在几乎所有骨骼未成熟的患者中都观察到了应力屏蔽。
    BACKGROUND: Megaendoprosthetic reconstruction of bone defects in skeletally immature patients has led to the development of unique complications and secondary deformities not observed in adult patient cohorts. With an increasing number of megaendoprosthetic replacements performed, orthopedic oncologists still gain experience in the incidence and type of secondary deformities caused. In this study, we report the incidence, probable cause and management outcome of two secondary deformities after megaendoprosthetic reconstruction of the proximal femur: hip dysplasia and genu valgum.
    METHODS: Retrospective analysis of 14 patients who underwent primary and/or repeat reconstruction/surgery with a megaendoprosthetic proximal femur replacement between 2018 and 2022.
    RESULTS: Mean patient age was 9.1 years (range 4-17 years). Stress shielding was observed in 71.4%. Hip dislocation was the most frequent complication (50%). While four dislocations occurred without an underlying deformity, secondary hip dysplasia was identified in 58.3% (n = 7/12) of intraarticular resections and reconstructions, leading to dislocation in 71.4% (n = 5/7). A genu valgum deformity was observed in 41.6% (n = 5/12). The incidence of secondary hip dysplasia and concomitant genu valgum was 42.9% (n = 3/7). Triple pelvic osteotomy led to rebound hip dysplasia in two cases (patients aged < 10 years), whereas acetabular socket replacement led to stable hip joints over the course of follow-up. Temporary hemiepiphyseodesis was applied to address secondary genu valgum.
    CONCLUSIONS: Patients aged < 10 years were prone to develop secondary hip dysplasia and genu valgum following proximal femur replacement in this study. Management of secondary deformities should depend on remaining skeletal growth. Stress shielding was observed in almost all skeletally immature patients.
    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
    背景和目的:缺乏分析跆拳道亚学科运动员下肢对准(LEA)LEA的研究。这项研究比较了优势腿和非优势腿运动员的LEA。材料和方法:对157名运动员的12项LEA测量进行了分析(63项陪练,50演示,和44名poomsae运动员)在韩国跆拳道协会注册。LEA是在站立时测量的,仰卧,和使用对齐应用程序的俯卧位置,测角器,气泡测斜仪,一个高度计,和触诊仪.结果:分析显示,腿腿运动员的优势腿表现出比陪练运动员更大的genuvalgum排列(p<0.01)。而陪练运动员的优势腿显示出比示范运动员更大的后足内翻对齐(p<0.01)。此外,后腿运动员的非优势腿表现出比陪练和示范运动员更大的genuvalgum排列(p<0.01),而陪练运动员的非优势腿显示出比示范运动员更大的后足内翻对齐(p<0.01)。此外,示范运动员的前足内翻对准优于后足运动员(p<0.01)。结论:这项研究表明,跆拳道运动员的LEA特征因其子学科而异。这项研究的结果将有助于设计针对每个子学科的培训计划,以最好地解决其LEA特征并有助于预防伤害。
    Background and Objectives: Studies analyzing lower extremity alignment (LEA) LEA among taekwondo subdisciplines athletes are lacking. This study compared LEA in the dominant and nondominant legs intaekwondo athletes. Materials and Methods: Twelve measurements of LEA were analyzed for 157 athletes (63 sparring, 50 demonstration, and 44 poomsae athletes) registered with the Korea Taekwondo Association. LEA was measured in the standing, supine, and prone positions using alignment application, a goniometer, a bubble inclinometer, a height gage, and a palpation meter. Results: The analysis revealed that the dominant leg of poomsae athletes showed greater genu valgum alignment than that of sparring athletes (p < 0.01), whereas the dominant leg of sparring athletes showed greater rearfoot varum alignment than that of demonstration athletes (p < 0.01). Furthermore, the nondominant leg of poomsae athletes showed greater genu valgum alignment than that of sparring and demonstration athletes (p < 0.01), whereas the nondominant leg of sparring athletes showed greater rearfoot varum alignment than that of demonstration athletes (p < 0.01). In addition, demonstration athletes had better forefoot varus alignment than poomsae athletes (p < 0.01). Conclusions: This study revealed that LEA characteristics vary among taekwondo athletes according to their subdiscipline. The results of this study would help in designing training programs tailored to each subdiscipline that would best address their LEA characteristics and help to prevent injuries.
    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
    在外翻对准和侧室退行性改变的患者中,股骨远端截骨(DFO)和胫骨高位截骨(HTO)均可用于卸载外侧室。先前的研究表明,在膝盖外翻中,胫骨磨损是后部的,DFO在伸展方面发挥最大的作用;然而,其效果随着屈曲角度的增加而降低。
    中间封闭楔(MCW)HTO将大大减少接触面积,平均接触压力(MCP),与外侧开放楔形(LOW)DFO相比,通过膝关节屈曲在外侧膝关节室中的峰值接触压力(PCP)更大。
    对照实验室研究。
    执行了MCWHTO和LOWDFO,校正平均8°外翻对齐,在10个尸体膝盖使用钢板固定。以0°测量内侧和外侧隔室的胫骨股接触压力,30°,60°,在截骨前后使用薄的电子传感器和通过Instron装置施加的载荷进行膝关节屈曲90°。PCP,MCP,并测量每个条件下的接触面积。
    与30°的天然状态相比,HTO状态下的横向MCP显着降低(P=.015),60°(P=.0199),屈曲90°(P<.0001)。当在60°(P=.0093)和90°屈曲(P<.0001)时,与DFO状态相比,在HTO状态下侧向MCP也显著降低。DFO之后,侧位MCP在屈曲60°(P>.999)和90°(P>.999)时恢复到原始状态。在所有屈曲度的所有测试状态下,侧向PCP均降低;与60°(P<.0001)和90°(P<.0001)的原始状态相比,HTO状态显着降低。
    使用8°的内翻校正,MCOWHTO在卸载横向隔间方面比LOWDFO更有效。随着膝关节屈曲角度的增加,这种效果很明显。这项研究应被视为手术决策过程的一个方面。
    在轻度至中度外翻畸形,无股骨外侧髁发育不良且无明显关节线倾斜的患者中,MCWHTO可以改善外侧隔室在屈曲中的卸载。
    UNASSIGNED: In patients with valgus alignment and degenerative changes in the lateral compartment, both distal femoral osteotomy (DFO) and high tibial osteotomy (HTO) can be used to unload the lateral compartment. Prior studies have shown that in valgus knees, the tibial wear is posterior and DFO exerts the greatest effect in extension; however, its effect is decreased as flexion angle rises.
    UNASSIGNED: Medial closing-wedge (MCW) HTO would significantly decrease contact area, mean contact pressure (MCP), and peak contact pressure (PCP) in the lateral knee compartment through knee flexion to a greater extent compared with lateral opening-wedge (LOW) DFO.
    UNASSIGNED: Controlled laboratory study.
    UNASSIGNED: MCWHTO and LOWDFO were performed, correcting a mean of 8° of valgus alignment, in 10 cadaveric knees using plate fixation. Tibiofemoral contact pressure of the medial and lateral compartments was measured in 0°, 30°, 60°, and 90° of knee flexion before and after osteotomy using thin electronic sensors and load applied through an Instron device. PCP, MCP, and contact area were measured for each condition.
    UNASSIGNED: The lateral MCP was significantly decreased in the HTO state compared with the native state in 30° (P = .015), 60° (P = .0199), and 90° (P < .0001) of flexion. The lateral MCP was also significantly decreased in the HTO state when compared with the DFO state in 60° (P = .0093) and 90° of flexion (P < .0001). After DFO, the lateral MCP returned to that of the native state in 60° (P > .999) and 90° (P > .999) of flexion. The lateral PCP decreased for all test states in all degrees of flexion; the HTO state was significantly decreased when compared with the native state in 60° (P < .0001) and 90° (P < .0001).
    UNASSIGNED: With varus corrections of 8°, MCWHTO was more effective at unloading the lateral compartment than LOWDFO. This effect was significant as the knee flexion angle increased. This study should be considered as one aspect of the surgical decision-making process.
    UNASSIGNED: In patients with mild to moderate valgus deformity without hypoplastic lateral femoral condyle and without significant joint line obliquity, MCWHTO may improve offloading of the lateral compartment in flexion.
    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
    脂肪瘤是一种罕见的良性关节内病变,其特征是滑膜的脂肪瘤样增生。这种情况通常会影响膝盖,伴有无创伤疼痛和肿胀。在单关节炎和关节积液的鉴别诊断中应考虑它。MRI有特征性诊断。我们介绍了一例罕见的树状脂肪瘤伴髌股骨关节炎和股骨病。我们讨论临床表现,放射学发现,和管理。
    Lipoma arborescens is a rare benign intra articular lesion characterized by lipomatous proliferation of the synovium. The condition typically affects the knee presenting with atraumatic pain and swelling. It should be considered in the differential diagnosis of monoarthritis and joint effusion. Diagnosis is made on MRI with characteristic features. We present a rare case of lipoma arborescens with patellofemoral osteoarthritis and genu valgum. We discuss the clinical presentation, radiological findings, and management.
    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
    目的:软骨发育不良是导致儿童致命性和致残性生长和发育障碍的最常见的骨骼发育不良,是由成纤维细胞生长因子受体的突变引起的,3型基因(FGFR3)。这项研究旨在分析ACH的临床特征和基因突变,以准确确定患者是否患有ACH,并提高公众对该病的认识。
    方法:Pubmed,科克伦图书馆,在万方和CNKI中搜索了“软骨发育不良”或“骨骼皮肤脑综合征”或“骨骼皮肤脑综合征”或“ACH”和“受体,成纤维细胞生长因子,键入3\"或\"FGFR3\"。
    结果:最后,纳入了467例具有不同FGFR3突变的患者.在138名具有性别信息的患者中,55(55/138,40%)为女性,83(83/138,60%)为男性。在有家族史的患者中,47例(47/385,12%)患者有家族史,338例(338/385,88%)患者为散发性。患者的年龄从新生婴儿到36岁不等。他们父亲的平均年龄为37±7岁(范围31-53岁)。患者来自12个国家和2大洲,大多数是亚洲人(383/432,89%),其次是欧洲(49/432,11%)。112例(112/112)患者身材矮小,胳膊和腿缩短,94例(94/112)患者的大头畸形,89(89/112)名患者的额叶隆起,64例(64/112)患者中发现了genuvalgum,51例(51/112)患者中发现了三叉戟手。最常见的突变是FGFR3基因的p.Gly380Arg,其中包含两个不同的基数变化,c.1138G>A和c.1138G>C。发现了十种罕见的致病性突变,包括c.831A>C,c.1031C>G,c.1043C>G,c.375G>T,c.113A>G,c.1130T>G,c.83A>G,c.649A>T,c.1180A>T和c.970_971insTCTCCT。
    结论:ACH是由FGFR3基因突变引起的,和c.1138G>A是最常见的突变类型。这项研究证明了分子遗传检测对矮小青少年早期发现ACH的可行性,三叉戟手,额前带,大头畸形和genuvalgum。
    OBJECTIVE: Achondroplasia is the most common of the skeletal dysplasias that cause fatal and disabling growth and developmental disorders in children, and is caused by a mutation in the fibroblast growth factor receptor, type 3 gene(FGFR3). This study aims to analyse the clinical characteristics and gene mutations of ACH to accurately determine whether a patient has ACH and to raise public awareness of the disease.
    METHODS: The database of Pubmed, Cochrane Library, Wanfang and CNKI were searched with terms of \"Achondroplasias\" or \"Skeleton-Skin-Brain Syndrome\" or \"Skeleton Skin Brain Syndrome\" or \"ACH\" and \"Receptor, Fibroblast Growth Factor, Type 3\" or \"FGFR3\".
    RESULTS: Finally, four hundred and sixty-seven patients with different FGFR3 mutations were enrolled. Of the 138 patients with available gender information, 55(55/138, 40%) were female and 83(83/138, 60%) were male. Among the patients with available family history, 47(47/385, 12%) had a family history and 338(338/385, 88%) patients were sporadic. The age of the patients ranged from newborn babies to 36 years old. The mean age of their fathers was 37 ± 7 years (range 31-53 years). Patients came from 12 countries and 2 continents, with the majority being Asian (383/432, 89%), followed by European (49/432, 11%). Short stature with shortened arms and legs was found in 112(112/112) patients, the abnormalities of macrocephaly in 94(94/112) patients, frontal bossing in 89(89/112) patients, genu valgum in 64(64/112) patients and trident hand were found in 51(51/112) patients. The most common mutation was p.Gly380Arg of the FGFR3 gene, which contained two different base changes, c.1138G > A and c.1138G > C. Ten rare pathogenic mutations were found, including c.831A > C, c.1031C > G, c.1043C > G, c.375G > T, c.1133A > G, c.1130T > G, c.833A > G, c.649A > T, c.1180A > T and c.970_971insTCTCCT.
    CONCLUSIONS: ACH was caused by FGFR3 gene mutation, and c.1138G > A was the most common mutation type. This study demonstrates the feasibility of molecular genetic testing for the early detection of ACH in adolescents with short stature, trident hand, frontal bossing, macrocephaly and genu valgum.
    导出

    更多引用

    收藏

    翻译标题摘要

    我要上传

       PDF(Pubmed)

公众号