The classic: Epiphyseal coxa vara or displacement of the capital epiphysis of the femur in adolescence. 1926.
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ABSTRACT:
SUBMITTER: Key JA
PROVIDER: S-EPMC3676624 | biostudies-literature | 2013 Jul
REPOSITORIES: biostudies-literature
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The classic: Epiphyseal coxa vara or displacement of the capital epiphysis of the femur in adolescence. 1926.
Clinical orthopaedics and related research 20130701 7
This Classic Article is a redacted reprint of the original work by J.A. Key, "Epiphyseal coxa vara or displacement of the capital epiphysis of the femur in adolescence." (Note the case reports and associated figures were deleted but are available in the supplemental reprint of the original article available online.) An accompanying biographical sketch of J.A. Key is available at DOI 10.1007/s11999-013-2907-9. The classic article is reprinted courtesy of The Journal of Bone and Joint Surgery from ...[more]
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Project description:BackgroundWe analyzed preoperative CT scans of hips with slipped capital femoral epiphysis (SCFE) for characteristics that could be predictive of intraoperative epiphyseal stability and developed a set of imaging criteria for stable and unstable SCFE. We then compared this grading system with the Loder classification.MethodsWe reviewed preoperative CT imaging to develop a SCFE stability classification system. Three orthopaedic surgeons used the classification system to grade stability on a series of SCFE hips. Kappa was used to evaluate intra- and interobserver reliability among the observers. A series of SCFE hips treated with open procedures in which intraoperative stability was determined under direct visualization was evaluated. Intraoperative stability was compared with stability ratings as determined by the CT classification system and the Loder classification system.ResultsInterobserver reliability among our three observers was κ = 0.823 (95% confidence interval (CI) 0.414 to 1.0; p < 0.001). Intraobserver reliability was κ = 0.901 (95% CI 0.492 to 1.31; p < 0.001). In all, 27 hips were used in the comparison of intraoperative stability with the Loder and CT classification systems. CT-predicted stability exhibited 78% concordance with intraoperative stability. The sensitivity and specificity of CT-predicted stability was 75% and 82%, respectively, versus Loder sensitivity of 69% and specificity of 91%.ConclusionThe CT evaluation method provided is easy to use and can help to improve the accuracy in determining preoperative epiphyseal stability, which may lead to improved treatment outcomes for this population.Level of evidenceIII.
| S-EPMC7043117 | biostudies-literature
Project description:UNLABELLED: The purpose of this study was to define the acetabular changes associated with coxa vara and determine how these acetabuli differ from those of a normal hip. Charts and radiographs of 33 patients with coxa vara with a mean age of 6 years (range, 2-15 years) were retrospectively reviewed. The diagnosis was developmental coxa vara in 21 patients and congenital femoral deficiency in 12. Radiographic measurements, including acetabular index, sourcil slope, center edge angle, migration index, and medial joint space, were compared with those of 29 hips in the control group. The inclination of the acetabulum or acetabular slope (as measured by the acetabular index and sourcil slope) was significantly increased in the hips with coxa vara as compared with those in the control group. Both parameters have a statistically significant inverse correlation with the degree of varus, ie, the greater the varus of the proximal femur, the greater the upsloping of the acetabulum. Joint subluxation, as measured by the center edge angle, migration index, and medial joint space, showed little difference from that of control subjects. LEVEL OF EVIDENCE: Level III, diagnostic study.
| S-EPMC2505262 | biostudies-other
Project description:BackgroundCamptodactyly-arthropathy-coxa vara-pericarditis (CACP, OMIM: #208250) syndrome is a rare autosomal recessive disease that can be difficult to recognise not only because of its wide clinical variability but also because of its clinical resemblance to juvenile idiopathic arthritis (JIA). PRG4 is the only gene so far known to be associated with CACP syndrome. Children with CACP syndrome lack the glycoprotein lubricin due to recessive mutations in PRG4. Lubricin serves as a lubricant in joints, tendons and visceral cavities (pleural cavity, pericardium) and inhibits synovial proliferation. Children with CACP syndrome suffer from congenital camptodactyly, arthropathy, coxa vara and sometimes pericarditis. This report concerns a child with CACP syndrome complicated by protein-losing enteropathy (PLE), caused by constrictive pericarditis and so contributes to knowledge of the presentation of CACP syndrome.Case presentationA 10- year-old girl with consanguineous parents suffered from congenital camptodactyly and progressive swollen and painful joints. Her father and his sister had similar childhood-onset joint complaints. Laboratory tests showed no signs of inflammation but showed persistent low protein- and IgG- levels, indicating a secondary immunodeficiency. Increased alpha antitrypsin clearance confirmed PLE. Abdominal ultrasound with Doppler showed hepatomegaly and portal hypertension. Echocardiography suggested constrictive pericarditis. However, heart catheterization could not confirm this. Ultrasound and X-ray examination of the joints combined with a puncture of the synovial fluid were performed. These results, combined with the clinical presentation and the consanguinity, suggested CACP syndrome. Due to excessive enteral protein losses, the patient was treated with Cotrimoxazol prophylaxis and immunoglobulin supplements. These supplements were inadequate to achieve normal IgG values. As constrictive pericarditis with subsequent PLE was the best explanation for the excessive IgG losses, pericardiectomy was performed with good results. Genetic testing in our patient was complicated but revealed a pathogenic mutation within the repeat sequence in exon 7 of the PRG4 gene.ConclusionPLE resulting from constrictive pericarditis can be a complication of CACP syndrome. As serious complications can arise from the resulting secondary immunodeficiency, we recommend regular evaluation of clinical symptoms of constrictive pericarditis and PLE in children with CACP syndrome.
| S-EPMC4880819 | biostudies-literature
Project description:Camptodactyly-arthropathy-coxa vara-pericarditis (CACP) syndrome is an inherited disorder characterized by congenital or early-onset flexion camptodactyly, childhood-onset of non-inflammatory arthropathy, often associated with non-inflammatory pericarditis or pericardial effusion and progressive coxa vara. The causative gene is located on chromosome band 1q25-31. This gene encodes for "proteoglycan-4" (PRG-4), which is a surface lubricant for joints and tendons. This syndrome has distinct radiological and histological features, which are important to recognize since it may clinically mimic juvenile idiopathic arthritis and mutation studies may not be easily available. We describe a case of a 3-year 3-month-old female with features of CACP syndrome.
| S-EPMC3779395 | biostudies-literature
Project description:BACKGROUND:In situ pinning of slipped capital femoral epiphysis (SCFE) results in various degrees of deformity of the femoral head-neck junction. Repetitive trauma from cam-type femoroacetabular impingement (FAI) can lead to labral tears and injury to the articular cartilage causing loss of function. Arthroscopic osteoplasty is an alternative to open procedure and to Southwick/Imhäuser-type osteotomies in symptomatic selected cases. SURGICAL TECHNIQUE:The amount of bone to be resected has to be carefully planned pre-operatively. Only gentle traction is applied on a well-padded perineal support. A spherical burr is used to gradually resect the prominence. Intra-operative fluoroscopy is very useful when checking adequate reshaping of the head-neck junction is obtained. RESULTS:Arthroscopy often reveals acetabular cartilage lesions, labrum hyperhemia and fraying which rarely require repair. Arthroscopic osteoplasty provides satisfactory pain relief and, to a lesser extent, restores hip internal rotation. CONCLUSION:Arthroscopic osteoplasty is more technically and time-demanding in post SCFE than idiopathic FAI. It requires strong arthroscopic skills and experience in hip arthroscopy. It stands as a reasonable alternative to open procedure or flexion osteotomies in symptomatic FAI post mild to moderate SCFE. It provides pain relief and to a lesser extent restores internal rotation of the hip.
| S-EPMC5421343 | biostudies-literature
Project description:BACKGROUND & OBJECTIVES: Camptodactyly--arthropathy-coxa vara-pericarditis (CACP) syndrome is an autosomal recessive disorder caused by mutations in the PRG4 (proteoglycan 4) gene. Hallmarks of the syndrome include congenital or early-onset camptodactyly and arthropathy with synovial hyperplasia, progressive coxa vara deformity and non-inflammatory pericardial effusions. Till date only around 25 pathogenic mutations have been reported in this gene and none have been reported from India. We report here the mutations in the PRG4 gene in three patients of CACP from two unrelated families from India. METHODS: Molecular genetic studies were done for the three patients with the CACP syndrome, from two unrelated Indian families, through sequence analysis of all coding exons and the exon-intron boundaries of the PRG4 gene. RESULTS: Two novel frame-shift deletion mutations leading to premature protein termination were found. One patient was identified to be homozygous for a 2 base pair deletion in exon 6 (c.2645_2646delGA) and the two affected siblings from the other family were found to be homozygous for a 4 base pair deletion in exon 6 (c.2883_2886delAAGA). CONCLUSIONS: This is perhaps the first report of PRG4 mutations from India. Further mutation studies in Indian CACP cases will help to determine the mutation spectrum of the PRG4 gene in the Indian population and also help to further elucidate the molecular pathology and the genotype-phenotype correlation of this rare disease.
| S-EPMC4216495 | biostudies-literature
Project description:BackgroundThe camptodactyly-arthropathy-coxa vara-pericarditis syndrome (CACP) is a rare autosomal recessive condition characterized by camptodactyly, noninflammatory arthropathy, coxa vara, and pericarditis. CACP is caused by mutations in the proteoglycan 4 (PRG4) gene, which encodes a lubricating glycoprotein present in the synovial fluid and at the surface of articular cartilage.MethodsIn the present study, we compared the clinical and molecular findings of CACP syndrome in 35 patients from 11 unrelated families. In 28 patients, whole exome sequencing was used to investigate genomic variations.ResultsWe found that camptodactyly of hands was the first symptom presented by most patients. Swelling of wrists, knees, and elbows began before 4 years of age, while the age of joint involvement was variable. Patients reported an increased pain level after the age of 10, and severe hip involvement developed after 20 years old. All patients presented developmental coxa vara and seven patients (~22%) had pleural effusion, pericarditis, and/or ascites. We identified nine novel genomic alterations, including the first case of homozygous complete deletion of exon 1 in the PRG4 gene.ConclusionWith this study, we contribute to the catalog of CACP causing variants. We confirm that the skeletal component of this disease worsens with age, and presents the potential mechanisms for interfamily variability, by discussing the influence of a modifier gene and escape from nonsense-mediated mRNA decay. We believe that this report will increase awareness of this familial arthropathic condition and the characteristic clinical and radiological findings will facilitate the differentiation from the common childhood rheumatic diseases such as juvenile idiopathic arthritis.
| S-EPMC5902402 | biostudies-literature
Project description:Camptodactyly-arthropathy-coxa vara-pericarditis (CACP) syndrome is a rare genetic disease characterized by tetrad camptodactyly, noninflammatory arthropathy, coxa vara deformity, and pericardial effusion. Arthropathy typically affects large joints and presents with joint swelling in the absence of other signs of inflammation. We described the case of a girl affected by CACP syndrome caused by a novel compound heterozygous variant in proteoglycan 4 gene (c.2831_2832insT; c.3892C > T) and associated with temporomandibular involvement. The patient received treatment with intra-articular hyaluronic acid injections, which presented rapid but transient improvements of pain and range of motion. A literature review of previously reported CACP patients has been performed. Of the patients. 69.2% (101 out of 146) were Middle Eastern, and 65.7% (96) were consanguineous. The median age of onset was 24 months (interquartile range of 12-36 months), and median age of diagnosis was 96 months (interquartile range of 48-156 months). Arthropathy was always present, mainly involving hips (95.2%), knees (92.4%), wrists (87.7%), elbows (79.5%), and ankles (57.5%). Camptodactyly and pericardial effusion were described, respectively, in 97.3% (142) and 15.1% (22) of patients. The main radiological findings were coxa vara (95.2%), femoral changes (64.4%), intraosseus cysts (14.4%), and bone erosion (5%). Of the patients, 32.9% (48) had received a previous juvenile idiopathic arthritis diagnosis. CACP syndrome can be easily misdiagnosed with juvenile idiopathic arthritis. A prolonged lack of response to immunosuppressive therapy associated with typical clinical and radiological features should prompt consideration of this rare syndrome.
| S-EPMC9760854 | biostudies-literature
Project description:Stable slipped capital femoral epiphysis (SCFE) is the most common disease in the adolescent hip, with an estimated frequency of 10.8 in every 100,000 individuals. Recent studies of the biomechanics of femoroacetabular impingement indicate that small anatomical deformities of the hip arising from SCFE can potentially cause permanent acetabular chondral damage. There is no consensus about the best treatment option, especially for cases of moderate or severe chronic slippage (Southwick classification). Some authors recommend treatment with fixation in situ, in the belief that remodeling of the residual deformity of the femoral neck during growth allows proper function of the hip joint. Others recommend correction at the site of the deformity (subcapital realignment), aiming for the anatomical reduction of the epiphysis and seeking to reduce the risk of chondral degeneration. The authors of this Technical Note present an alternative to the classical techniques of subcapital realignment for the treatment of moderate and severe chronic and stable SCFE, which allows adequate access to the hip joint and anatomical reduction of the slippage, besides having the theoretical advantage of rapid rehabilitation of the patient.
| S-EPMC5495636 | biostudies-literature
Project description:PurposeThe purpose of this study was to identify risk factors for developing a subsequent contralateral slipped capital femoral epiphysis (SCFE) and provide a prediction score to quantify risk of subsequent slip at the time of initial presentation.MethodsThis retrospective study included patients that presented with a unilateral SCFE between 2006 and 2017. Chart and radiographic review were performed to collect demographic, clinical and radiographic risk factors. Descriptive statistics, univariate analyses and multivariate regression analysis were used to compare risk factors between patients that did or did not develop a subsequent contralateral SCFE.ResultsThis study included 183 patients and 33 patients (18%) developed a subsequent contralateral SCFE. Younger age at time of initial presentation, lower modified Oxford Score and smaller difference in epiphyseal-diaphyseal angle between both sides during index presentation were significant predictors of subsequent contralateral SCFE. Specifically, age ≤ 11 years, modified Oxford Score ≤ 20 and difference in epiphyseal-diaphyseal angle of ≤ 21° between both hips were predictive of a contralateral slip (Area Under the Curve = 0.78; p < 0.05). The presence of each risk factor increased the risk of subsequent contralateral SCFE and having all three risk factors increased the risk to 73%.ConclusionThere is a significant risk of subsequent contralateral SCFE in patients with unilateral SCFE, and predictive risk factors include younger age, lower modified Oxford Score and smaller difference in epiphyseal-diaphyseal angle between the affected and unaffected hips.Level of evidenceLevel III.
| S-EPMC7184641 | biostudies-literature