884 results match your criteria: "Congenital Coxa Vara"

Camptodactyly-arthropathy-coxa vara-pericarditis (CACP) syndrome is a rare genetic disorder characterized by a combination of congenital flexion contractures of the fingers (camptodactyly), non-inflammatory joint swelling (arthropathy), hip deformities (coxa vara), and recurrent pericarditis. In early childhood, the clinical presentation is dominated by the articular manifestations that can easily mimic juvenile idiopathic arthritis, often leading to delayed diagnosis and inappropriate treatments. Although not pathognomonic, ultrasound may provide specific ultrasound characteristics of joint involvement in CACP syndrome that help differentiate it from inflammatory arthropathies.

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Aims: To analyze the postoperative recovery effects of different internal fixations on intertrochanteric fractures, so as to select the best fixation method for clinical practice.

Methods: This is a retrospective analysis. A total of 100 patients with intertrochanteric fractures hospitalized at The Affiliated Tai'an City Central Hospital of Qingdao University from March 2022 to March 2024 were grouped according to the treatment method.

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Article Synopsis
  • The study explores the risk of periprosthetic femoral fractures (PFF) following total hip arthroplasty (THA) using a direct anterior approach (DAA) with a specialized femoral stem design.
  • A review of data from 2019 to 2021 showed a low incidence of PFF (1.6%), with the majority occurring intraoperatively and some being detected postoperatively.
  • Key risk factors for fractures identified include female gender and specific preoperative femoral neck angles (coxavalga and coxavara), supporting previous findings in the literature.
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  • X-linked hypophosphatemia (XLH) is a rare genetic disorder leading to skeletal issues, particularly affecting a patient's gait due to lower limb deformities, but standardized data on these deformities are lacking.
  • A study assessed lower limb maltorsion in children and adolescents with XLH, using advanced imaging techniques like MRI and CT to measure femoral and tibial torsion, acetabular anteversion, and hip coverage.
  • Results indicated that many patients exhibited abnormal femoral and tibial torsion; notably, 47% had decreased femoral torsion, and 64% presented reduced external tibial torsion, raising concerns about the impact of these deformities on walking
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Growth retardation for more than 2 SD below the average population or presumed familial target height is classified as a short stature and may be a clinical manifestation of a large number of disorders. The use of the latest methods of molecular genetic analysis in recent years has allowed for a better understanding of the pathogenesis of inherited forms of a short stature. One of the recently discovered mechanisms of this pathology was monoallelic mutations in RPL13 gene, leading to the development of Isidor-Toutain type spondyloepimetaphyseal dysplasia (SEDM).

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Choi IIIB sequelae of septic hip: Etiologically different entities clubbed together?

J Clin Orthop Trauma

June 2024

Department of Paediatric Orthopaedics, Chacha Nehru Bal Chikitsalaya, Geeta Colony, Delhi, 110031, India.

Background: Choi IIIB sequela (pseudarthrosis of femoral neck) is an uncommon complication of septic hip. Only few cases are reported in literature and experience with the entity is limited. Variable pseudarthrosis behaviour and treatment outcomes are reported questioning the mechanical etiology for Choi III sequela.

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Thirteen Indians with camptodactyly-arthropathy-coxa vara-pericarditis syndrome.

Clin Dysmorphol

October 2024

Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, Karnataka.

Article Synopsis
  • CACP syndrome is a rare genetic disorder that includes symptoms like camptodactyly, coxa vara, arthritis, and constrictive pericarditis, primarily caused by mutations in the PRG4 gene.
  • A study evaluated 13 individuals from eight related Indian families, confirming the diagnosis through exome and Sanger sequencing to identify disease-causing variants.
  • The research uncovered five new and two previously known mutations in PRG4, highlighting the common physical symptoms observed in these patients, such as joint deformities and arthritis in major joints.
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  • Finite element analysis (FEA) is a widely used technique in orthopaedic research to measure stress and strain in bones, specifically in this study focusing on the femur.
  • The research compared outcomes like femoral head deflection and mechanical stress under four common boundary conditions against a gold standard method, revealing that traditional methods often led to unrealistic biomechanical results.
  • A new biomechanical constraint method demonstrated better accuracy in reflecting real-life femur biomechanics, showing results consistent with physiological data and outpacing traditional methods for both normal and pathological femurs.
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Objective: To explore the effectiveness of irreducible intertrochanteric femoral fracture in the elderly by treating with folding top technique and right-angle pliers prying and pulling under G-arm X-ray fluoroscopy.

Methods: The clinical data of 74 elderly patients with irreducible intertrochanteric femoral fracture admitted between February 2016 and December 2022 and met the selection criteria were retrospectively analyzed. Among them, 38 cases were treated with folding top technique combined with right-angle pliers prying and pulling under G-arm X-ray fluoroscopy and intramedullary nailing fixation (study group), and 36 cases were treated with limited open reduction combined with other reduction methods and intramedullary nailing fixation (control group).

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An adult with cystathionine beta-synthase deficiency, camptodactyly-arthropathy-coxa vara-pericarditis syndrome, and deafness: A case report.

Genet Mol Biol

April 2024

Universidade Federal do Rio Grande do Sul, Programa de Pós-Graduação em Genética e Biologia Molecular, Porto Alegre, RS, Brazil.

Article Synopsis
  • Massive sequencing technologies can help identify multiple genetic disorders in patients with complex clinical symptoms.
  • A patient, linked to a related couple, was assessed for issues like lens displacement and deafness, and initially diagnosed with Classic Homocystinuria.
  • Further genetic testing revealed additional rare disorders, leading to a better understanding of his conditions and potential treatment options.
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Case: We describe the surgical management of a girl with dwarfism and congenital spondyloepiphyseal dysplasia, who presented in adolescence with coxa vara and bilateral pseudarthrosis between the femoral neck and the diaphysis, with asymmetric distal migration at both sites and leg length discrepancy. The patient at 16 years underwent valgus osteotomy in situ and femoral neck fixation in the left hip. The right hip was operated 19 months later.

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Background: Campotodactyly-artrhropathy-coxa vara-pericarditis (CACP) syndrome is a very rare autosomal recessive genetic disorder. It is characterized by flexion contracture of the fifth finger (camptodactyly); noninflammatory arthropathy; decreased angle between the shaft and the head of the femur (coxa vara) and pericarditis. Its association with mitral stenosis has not yet been reported.

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Background: Femoral neck fractures in children are uncommon, making up little more than 1% of all paediatric fractures. It's not apparent which type of internal fixation-closed or open-is preferable in these situations when it comes to therapeutic options. When treating children with displaced femoral neck fractures, serious problems can arise.

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Introduction: Complications following operative treatment of pediatric femoral neck fractures include nonunion, coxa vara, and avascular necrosis (AVN). Proximal femoral locking plates (PFLPs) provide a fixed-angle construct that may reduce the rates of coxa vara, but their use in pediatric femoral neck fractures has not been studied. The purpose of this study was to evaluate rates of union, coxa vara, and AVN in traumatic pediatric femoral neck fractures treated with PFLP or cannulated screws (CS).

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