Camptodactyly-arthropathy-coxa vara-pericarditis syndrome and an unusual association with mitral stenosis.

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. Hereby we report this unique association with CACP syndrome. CASE: An eleven-year-old girl presented with non-productive cough, dyspnea, and orthopnea. She was diagnosed CACP syndrome at the age of seven and a biallelic frameshift mutation in the PRG4 gene was determined. The physical examination revealed pectus excavatum, camptodactyly, genu valgum, tachypnea and orthopnea. The functional capacity was NYHA III-IV. She had 2/6 soft pansystolic murmur at 4th left intercostal space and a rumbling diastolic murmur at apex. Echocardiography revealed an enlarged left atrium, severe stenotic mitral valve with a mean diastolic transmitral gradient of 22.5 mmHg, mild mitral regurgitation and mild apical pericardial effusion. The patient had mitral comissurotomy and partial pericardiectomy operation. Her post-operative transmitral gradient decreased to 6.9 mmHg and the pulmonary pressure was 30 mmHg. Her functional capacity increased to NYHA I-II. CONCLUSIONS: The main defect is the proteoglycan 4 protein which acts like a lubricant in articular and visceral surfaces. Therefore, the leading clinical feature is arthropathy. Cardiac involvement other than clinically mild pericarditis is not usually expected. Three types of proteoglycans (decorin, biglycan, and versican) are present in the mitral valve. This could be the reason of mitral valve involvement in rare cases as like ours. It is important that these patients undergo echocardiographic examination regularly.

Excision of fibrous band and application of tension band plating in focal fibrocartilaginous dysplasia: A case report and literature review.

Focal fibrocartilaginous dysplasia (FFCD) is a rare disease that can cause angular deformities of long bones. The common pathologic finding is a thick fibrotic band extending from epiphysis to metaphysis on one side of the bone. The tethering effect of the fibrotic band around the growth plate is thought to be the main etiology for the development and progression of the deformity. FFCD mostly affects the proximal tibia and the distal femur. The literature contains different treatment options. Here, we present the case of a 20-month-old girl with FFCD on the medial side of the distal femur causing varus deformity. Our treatment protocol included excision of the fibrotic band from the medial side and application of a two-hole plate for guided growth on the lateral side of the distal femur. Deformity correction was achieved rapidly with no complications. A literature review is also presented along with pathologic and magnetic resonance imaging findings.

The risk assessment model of fracture nonunion after intramedullary nailing for subtrochanteric femur fracture.

ABSTRACT: To investigate the influencing factors of fracture nonunion after intramedullary nailing for subtrochanteric fractures and to construct a risk assessment model.Based on the multicenter retrospective analysis of 251 patients, all patients were divided into modeling group and verification group. In the modeling group, postoperative fracture nonunion rate, general data, fracture-related factors, surgical reduction-related factors, mechanical and biological factors were calculated, and the influencing factors of fracture nonunion were screened by univariate analysis. Logistic regression model was used for multifactor analysis to construct the risk assessment model. Based on the logistic regression model, the risk prediction model was constructed by drawing the Nomogram diagram. Through the verification group, the influencing factors were evaluated again, and the differentiation and calibration of the model were evaluated. The calibration degree was evaluated by Hosmer-Lemeshow test, goodness of fit test, and calibration curve. The discriminant degree was evaluated by the receiver operating characteristic curve.Fracture nonunion occurred in 34 of 149 patients in the modeling group. Among the 14 potential influencing factors, univariate analysis and logistic regression analysis showed that postoperative hip varus, intramedullary nail fixation failure, and reduction of fracture with large incision were the risk factors of fracture nonunion. The medial cortex fracture was seen reduced on X-Ray was a protective factor for fracture nonunion, and a regression equation was established. Based on the logistic regression model, the Nomogram diagram is drawn. Twenty-four cases of fracture nonunion occurred in the verification group. The area under the receiver operating characteristic curve was area under curve =0.883 > 0.7, indicating that there was a moderate differentiation to evaluate the occurrence of fracture nonunion after operation. The goodness of fit test: the Hosmers-Lemeshow test (X2 = 2.921, P = .712 > .05) showed that the model had a good calibration.After intramedullary nailing of subtrochanteric fracture, hip varus, failure of intramedullary nail fixation and wide surgical dissection are the risk factors of fracture nonunion, and the postoperative reduction of medial cortex fracture is protective factor.National key research and development projects: 2016YFC0105806.

Syndrome of progressive deforming non-inflammatory arthritis of childhood: two patients of camptodactyly-arthropathy-coxa vara-pericarditis syndrome.

Camptodactyly-arthropathy-coxa vara-pericarditis (CACP) syndrome is a rare familial arthropathy of childhood, commonly misdiagnosed as juvenile idiopathic arthritis. It is characterized by non-inflammatory arthropathy, coxa vara deformity, and sterile pericarditis. We describe two children with CACP syndrome who were referred to the rheumatology clinic for the suspicion of inflammatory arthritis. A literature search was carried out using PubMed/ Medline and Embase databases. English language reports of mutation-proven cases of CACP syndrome reported until 31 March 2020 were retrieved and analysed. Both the children had a delay in diagnosis (age at diagnosis- 12 and 13 years, respectively) and had received immunomodulatory therapy for suspected inflammatory arthritis. Presence of symmetrical arthropathy of large joints, camptodactyly, and normal inflammatory parameters are clues that indicated CACP syndrome. One child with a novel variant in PRG4 also had associated mitral valve prolapse and regurgitation. Both had severe constrictive pericarditis requiring pericardiectomy. On literature review, a total of 98 mutation-proven cases of CACP syndrome have been reported till date. Arthropathy in CACP syndrome mainly involves knees, wrists, ankles, and hips. Pericarditis is usually mild, however, can present rarely with severe symptoms requiring surgical intervention. CACP syndrome can closely mimic inflammatory arthritis and early clinical recognition is important to avoid misdiagnosis. Molecular confirmation is essential for early diagnosis and future genetic counselling for affected families.

Acquisition of coronal alignment according to the degree of varus deformity in total knee arthroplasty using computer-assisted navigation.

PURPOSE: We have analyzed the surgical outcomes of primary total knee arthroplasty (TKA) using computer-assisted navigation that were performed by a single surgeon in terms of postoperative coronal alignment depending on preoperative varus deformity. METHODS: We conducted a retrospective study of patients who have undergone navigated primary TKA from January 2016 through December 2019. Two hundred and fifty-six cases with varus deformity of 10° or less were assigned to group 1, and 216 cases with varus deformity of more than 10° were assigned to group 2. The postoperative mechanical hip-knee-ankle (mHKA) angle was measured from scanograms which were taken preoperatively and 3 months after surgery. The postoperative mHKA angle was targeted to be 0°, and the appropriate range of coronal alignment was set as 0 ± 3°. RESULTS: The Pearson correlation showed a significant correlation with the degree of preoperative varus deformity and with the absolute error of postoperative mHKA (p = 0.01). Among all patients, 64 cases (13.6%) were detected as outliers (mHKA > 0° ± 3°) at 3 months after surgery. Of the 64 cases, 25 cases (9.8%) were affiliated to group 1 and 39 cases (18.1%) were affiliated to group 2. Group 2 showed significantly higher occurrence of outliers than group 1 (p = 0.01). Multiple variables logistic regression analysis, which analyzed the difference in the occurrence rate of outliers (mHKA > 0° ± 3°), showed that the occurrence rate of group 2 was 2.04 times higher than group 1. After adjusting for patient's age, gender, and body mass index, the occurrence rate of outliers in group 2 was 2.01 times higher than group 1. CONCLUSION: The benefit of computer-assisted navigation during TKA in obtaining coronal alignment within 0 ± 3° may be lessened when the preoperative varus deformity is severely advanced.

Multiple needle puncture combined with repetitive knee manipulation in total knee arthroplasty for correcting varus deformity.

PURPOSE: Multiple needle punctures (MNPs), for gap balancing in total knee replacement, have less variability in gap widening compared to the conventional released technique. This study aimed to evaluate the outcome of gap-balancing techniques in varus osteoarthritis (OA) knees, by serial MNP, after a total knee prosthesis trial component was placed, combined with repetitive knee manipulation. METHODS: This study was a retrospective, case-matched study of 161 patients. The data were collected from varus OA knee patients, who had total knee arthroplasty by a single surgeon. Sixty-eight patients required MNP, combined with repetitive knee manipulation for gap balancing, and 93 patients did not. Both groups of MNP patients underwent the same surgical technique and postoperative care protocols. RESULTS: Knee society scores, in terms of knee score and functional score, were not different in both groups when we started the study, at 6-month and 1-year follow-ups (p > 0.05). The femorotibial angle was not significantly different between groups at the start of the study, initial postoperative, 6 months, and 1 year (p = 0.74, 0.45, 0.99, and 0.82, respectively). Medial joint opening in knee radiographic was found in 3% of the patients in the MNP group and in 4% of patients in the control group at 1-year follow-up (p = 0.65). CONCLUSION: This study found MNP combined with repetitive knee manipulation was effective, reproductive, and a safe method for varus OA knee. We believe that the cycle of performed needle punctures, knee manipulation, and reevaluation could gradually lengthen the medial soft tissue without risk of over lengthening or medial collateral ligament rupture.

An alternative fixation method for femoral varus derotational osteotomy in spastic cerebral palsy: the Rush rod.

The objective of this study is to present the clinical and radiographic data collected from patients who were treated with a varus derotational osteotomy using Rush rod fixation and compare this to published norms of outcomes using blade plate fixation. A retrospective chart and radiograph review was conducted after identifying 44 patients with 61 hips who underwent varus derotational osteotomy with Rush rod fixation at our institution between 2006 and 2016. We identified 44 patients with 61 hips who underwent the procedure. Information from follow-up clinic visits was gathered and any complications were noted. The patients' radiographs were analyzed to measure neck-shaft angle, center-edge angle, and acetabular index. At the time of surgery, 44 patients (61 hips) also had soft tissue releases performed, 44 (61 hips) had an open reduction of the hip, and 39 (55 hips) had Dega acetabular osteotomies performed as well. The average pre-operative neck-shaft angle was measured at 163.0° (range 128-180) with average post-operative neck-shaft angles measuring 111.3° (range 85-167). The acetabular index improved from an average of 33.3° (range 16-60) to 16.4 (range 4-35). Post-operative Center-Edge Angle measured 29.7° (range 5-45). There were no infections or cases of avascular necrosis of the femoral head. We present an alternative fixation method for performing varus derotational osteotomy of the proximal femur in children with cerebral palsy using the Rush rod. In our retrospective analysis of 61 hips undergoing this procedure, we present comparable radiographic outcomes with decreased complication rates. Level of evidence: Retrospective comparative study to previously published results, Level III.

Genotype-phenotype investigation of 35 patients from 11 unrelated families with camptodactyly-arthropathy-coxa vara-pericarditis (CACP) syndrome.

BACKGROUND: The 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. METHODS: In 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. RESULTS: We 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. CONCLUSION: With 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.

Brothers with constrictive pericarditis - A novel mutation in a rare disease.

Familial constrictive pericarditis is extremely rare. We report a case of two brothers both suffering constrictive pericarditis along with having multiple painless joint deformities. Genetic workup confirmed the clinical diagnosis of camptodactyly-arthropathy-coxa vara-pericarditis (CACP) syndrome CACP syndrome and also revealed a rare mutation in the causative gene.

[How safe are orthoroentgenograms in determining the amount of correction for varus deformities?]. / Ortoröntgenogramlar varus diziliminin düzeltme miktari tespitinde ne kadar güvenilirdir?

OBJECTIVES: In this study, we evaluated the effects of the distance of the legs from the midline on alignment and angles of the lower extremities in orthoroentgenograms. PATIENTS AND METHODS: Between March 2012 and April 2013, 95 limbs of 56 patients with varus deformity who underwent orthoroentgenogram to identify the amount of joint laxity in two positions were included in this study. The initial X-ray was performed with the feet in contact, while the other was performed as the legs were abducted to be in line with the shoulders. For each orthoroentgenogram, the mean mechanical axis angle, anatomical axis, and joint line orientation angles were measured retrospectively. These measurements were repeated for 43 limbs with varus deformity >10°. RESULTS: In the orthoroentgenograms with the feet in contact, the mean mechanical axis angle was 9.58°±5.7°, (0.20°; 26.0°), the mean anatomical axis angle 3.65°±6.14°, (-9.0°; 21.0°), and the mean joint line orientation angle -3.41°±2.52°, (-12.0°; 1.60°). In the orthoroentgenograms with the legs abducted, the mean mechanical axis angle was 7.73°±5.58°, (-3.0°; 23.0°), the mean anatomical axis angle 2.62°±5.87°, (-11.0°; 18.30°), and mean joint line orientation angle was -2.44°±2.41°, (-13.0°; 3.0°). The differences in the angles between the two positions were statistically significant (p<0.005). CONCLUSION: Our study results showed that the mean values of mechanical axis angle, anatomical axis and the joint line orientation angle were higher in orthoroentgenograms with the feet in contact than the orthoroentgenograms with the legs abducted in patients with varus gonarthrosis. We suggest that this may lead to mistakes in the preoperative planning. Ideal positions should be standardized to minimize possible problems.

[Crooked legs- just an aesthetic problem]. / Krumme Beine - mehr als ein ästhetisches Problem?

Because the lower extremities are weight bearing, malalignment plays a key role in the development of degenerative disease of the joints. This is particularly true as degenerative arthropathy is of mechanical and not inflammatory cause. Deviation of the axis has been shown to alter the load and force distribution in the joint and thereby causing excessive wear. Whether or not a deformity is clinically relevant or not depends on the symptoms, the amount of the deformity and the location of the deformity. Relevant deformities can be treated with orthotics or corrective osteotomies in early stages. In late stages fusions or joint replacement is the mainstay of treatment.

Parce que les extrémités inférieures portent un poids, un mauvais alignement de ces dernières joue un rôle clé dans le développement des atteintes dégénératives des articulations. Cela est particulièrement vrai puisque l'arthropathie dégénérative est d'origine mécanique et non pas inflammatoire. Une déviation axiale a été montrée modifier la répartition des charges et des forces dans l'articulation et provoquer ainsi un poids excessif. Qu'une déformation soit significative ou non sur le plan clinique dépend des symptômes, de l'importance et de la localisation de la déformation. Les déformations significatives peuvent être traitées dans des stades précoces par des ostéotomies orthotiques ou correctrices. Dans les stades tardifs des fusions ou des remplacements articulaires représentent les options thérapeutiques principales.

Axial involvement with facet joint arthropathy and bony ankylosis in a case of camptodactyly, arthropathy, coxa vara, pericarditis (CACP) syndrome.

Familial arthropathy associated with congenital camptodactyly has been previously recognized as a definite clinical entity in the literature. The clinical spectrum of this disease seems to be variable. The typical features of congenital camptodactyly, arthropathy, coxa vara and pericarditis (CACP syndrome) appear to be a more frequent presentation in children from the Middle East and North Africa. Musculoskeletal presentation of this rare familial form of arthropathy is unique and heterogeneous. In all previous reports, non-inflammatory pattern of arthropathy involving the peripheral joints with typical coxa vara deformity were described, and in a few cases spine abnormalities, including kyphosis, lordosis, or scoliosis. We describe the first case of axial involvement in a typical case of CACP syndrome with facet joint arthropathy and ankylosis at L5/S1 levels.

[Exactness of correction of proximal femoral deformities using conventional angled blade plates and the cannulated paediatric osteotomy system. Comparison of two methods]. / Porovnání presnosti korekce proximálního femuru klasickými úhlovými dlahami a systémem kanalizovaného pediatricko-ortopedického instrumentária (CAPOS).

PURPOSE OF THE STUDY: The aim of the study was to compare the exactness of correction of proximal femoral deformities between the patients treated with AO angled blade plates and those managed by the cannulated paediatric osteotomy system (CAPOS). MATERIAL AND METHODS: In the period from 1994 to 2003, corrective osteotomy of the proximal femur using the conventional AO angled blade plate (90°, 120°, 130°) was performed on 57 hips in 42 children. In the period 2004-2012, 68 hips in 59 children were treated by the CAPOS method. In each child, the pre- and post-operative X-ray views were compared and a real deviation from the pre-operative plan was determined. A deviation larger than 10° in the frontal plane was recorded as an error. Penetration of the blade into either the posterior or the anterior femoral neck cortex seen on axial views was regarded as an error as well. RESULTS: Corrective osteotomy with AO angled blade plates performed on 57 hips failed in 12 (21.1%) on anteroposterior views and six hips (10.5%) on axial views. Of 68 hips treated by the CAPOS, failure was recorded in four (5.9%) and one (1.5%) on anteroposterior and axial views, respectively. DISCUSSION No information on the CAPOS technique is available in either international or national literature, with the exception of our preliminary report. On the other hand, locking compression plates for paediatric hips, developed later, have been described in several publications. The authors appreciate a higher accuracy of bone correction and higher stability for the whole fixation, which results in earlier mobilisation of the treated extremity. These advantages are also true for CAPOS instrumentation. CONCLUSIONS: The CAPOS can be seen as an intermediate stage of development between conventional angled blade plates and locking compression plates for paediatric hips. However, it should be noted that surgery involving insertion of an angled blade plate takes less time than insertion of a locking compression plate. For this reason, in procedures combining femoral osteotomy with, for instance, triple pelvic osteotomy the use of CAPOS instrumentation is still preferred.

Camptodactyly-arthropathy-coxavara-pericarditis syndrome in Saudi Arabia: clinical and molecular genetic findings in 22 patients.

BACKGROUND: Camptodactyly-arthropathy-coxavara-pericarditis (CACP) syndrome is a rare autosomal recessive disorder caused by mutations in the gene proteoglycan 4 (PRG4), affecting lubricin production, which is an essential protein for joint function. Manifestations vary between affected individuals with camptodactyly, early-onsetnon-inflammatory arthropathy, coxa vara deformity and non-inflammatory pericarditis. OBJECTIVE: To describe the clinical, laboratory, radiological and genetic findings of CACP syndrome in children from Saudi Arabia. METHODS: Medical records of all the children with CACP syndrome seen between June 1990 and June 2012 at King Faisal Specialist Hospital and Research Center, Riyadh were reviewed. The data include gender,age of first disease manifestations,referral diagnosis, clinical and radiological features, and molecular genetic studies as well as functional status at the last follow-upvisit. RESULTS: Twenty-two patients (15 boys), (clinical and genetic data of 15 patients were previously published) with mean age at diagnosis 3.7 (1-14) years, were included in this cohort study. The referral diagnosis was inaccurate in all patients; juvenile idiopathic arthritis (JIA) was the referral diagnosis in majority of the patients. Six families had more than one affected child. Camptodactyly and large joints arthropathy were present in all the cases. Camptodactyly was observed in the neonatal period in all the patients, while other joint involvement was observed through the 1st year of life. All patients had a normal cardiac evaluation but two children had evidence of pericarditis. All patients had normal inflammatory markers and the result for rheumatoid factor test was negative. Radiological findings included coxa vara with a short femoral neck and flat, irregular femoral heads and intra-osseous cysts, increased joint space, and abnormal modeling of the acetabulum with small iliac wings. Other joints (knees, ankle, elbow and wrist) showed soft-tissue swelling consistent with thick cartilage and abnormal modeling with evidence of intra-articular fluid in majority of the patients. Synovial biopsy from three patients revealed proliferating synovial epithelium with moderate fibro-collagenous densities and multinucleated giant cells, occasional lymphocytes or neutrophils were identified. Previously, a locus responsible for causing CACP syndrome has been reported in eight patients of our cohort; it has been assigned to 1q25-q31. Furthermore, in seven newly diagnosed patients from four unrelated families, five novel mutations were found. All patients were referred to us while they were on NSAIDs, 10 patients used antirheumatic drugs (prednisone and methotrexate) and two patients were treated with etanercept. In all patients, treatment was ineffective apart from mild pain relief. CONCLUSION: CACP syndrome is an autosomal recessive disorder occurring due to mutations in the gene PRG4 encoding lubricin; it is not an uncommon disorder in Saudi Arabia. Pericarditis is rarely seen in our patients. Our data suggest that CACP syndrome may be easily confused with JIA, causing a delay in diagnosis and probably unnecessary treatment with antirheumatic drugs including biologic agents.

Perthes' disease and femoroacetabular impingement in a child with proximal femoral focal deficiency.

A girl with known proximal femoral focal deficiency presented with Perthes' disease at 5 years of age. Her treatment involved a Salter osteotomy. This in conjunction with articular incongruence, due to deformity of the femoral head, resulted in mixed type femoroacetabular impingement when she was 10 years old. Surgical hip dislocation and femoral neck osteochondroplasty successfully relieved her symptoms of impingement. This is the first reported case of Perthes' disease in a patient with proximal femoral focal deficiency. The case highlights the importance of thoroughly investigating pain in patients with proximal femoral focal deficiency, a condition which is normally painless. Timely diagnosis of Perthes' disease and containment procedures can prevent collapse of the femoral head and the resultant sequelae. Acetabular over-coverage should be avoided in pelvic osteotomy to prevent the development of femoroacetabular impingement.