Bone deformity in sports-related elbow osteoarthritis: influence of osteochondritis dissecans of the capitellum-a cross-sectional study.

INTRODUCTION: Sports activity can cause elbow osteoarthritis, which subsequently induces bone deformity. Osteochondritis dissecans (OCD) of the capitellum develops defects of articular surfaces and can exacerbate bone deformity. This study aimed to investigate whether OCD exacerbates deformities in sports-related elbow osteoarthritis. MATERIALS AND METHODS: Twenty-one patients who underwent bilateral computed tomography preoperatively followed by surgery for sports-related elbow osteoarthritis were included. Patients were divided into two groups according to the presence or absence of an OCD history: OCD + (n = 6) and OCD- (n = 15). Bilateral three-dimensional bone models of the humerus, ulna, and radius were created using computed tomography data, and bone deformities were extracted by subtracting healthy mirror models from the affected models using a Boolean operation. Bone deformities were divided into 22 regions in the 3 bones. The volume of the deformity was estimated by correlating the anteroposterior and lateral diameters of the OCD and by comparing the two groups. RESULTS: The anteroposterior diameter of the OCD correlated with the articular surface of the medial trochlear notch, whereas the lateral diameter correlated with the whole ulna, medial gutter of the ulna, whole radius, and lateral side of the radial head. The deformities were 2.2 times larger in the whole humerus, 1.9 times larger in the whole ulna, and 3.0 times larger in the whole radius in the OCD + group than in the OCD- group. The deformities were significantly larger in the OCD + group than in the OCD- group in the radial fossa, posterior capitellum, medial gutter, and lateral gutter in the humerus, medial gutter in the ulna, and lateral, anterior, and posterior sides of the radial head. CONCLUSION: Larger OCD exacerbated deformity in elbow OA, and the presence of OCD exacerbated deformities in sports-related elbow OA. These results demonstrate the highlight of preventing OCD progression.

Transcriptome-based biomarker gene screening and evaluation of the extracellular fatty acid-binding protein (Ex-FABP) on immune and angiogenesis-related genes in chicken erythrocytes of tibial dyschondroplasia.

BACKGROUND: Tibial dyschondroplasia (TD) is a bone disorder in which dead chondrocytes accumulate as a result of apoptosis and non-vascularization in the tibial bone of broiler chickens. The pathogenicity of TD is under extensive research but is yet not fully understood. Several studies have linked it to apoptosis and non-vascularization in the tibial growth plate (GP). We conceived the idea to find the differentially expressed genes (DEGs) in chicken erythrocytes which vary in expression over time using a likelihood-ratio test (LRT). Thiram was used to induce TD in chickens, and then injected Ex-FABP protein at 0, 20, and 50 µg.kg-1 to evaluate its therapeutic effect on 30 screened immunity and angiogenesis-related genes using quantitative PCR (qPCR). The histopathology was also performed in TD chickens to explore the shape, circularity, arrangements of chondrocytes and blood vessels. RESULTS: Clinical lameness was observed in TD chickens, which decreased with the injection of Ex-FABP. Histopathological findings support Ex-FABP as a therapeutic agent for the morphology and vascularization of affected chondrocytes in TD chickens. qPCR results of 10 immunity (TLR2, TLR3, TLR4, TLR5, TLR7, TLR15, IL-7, MyD88, MHCII, and TRAF6) and 20 angiogenesis-related genes (ITGAV, ITGA2, ITGB2, ITGB3, ITGA5, IL1R1, TBXA2R, RPL17, F13A1, CLU, RAC2, RAP1B, GIT1, FYN, IQGAP2, PTCH1, NCOR2, VAV-like, PTPN11, MAML3) regulated when Ex-FABP is injected to TD chickens. CONCLUSION: Immunity and angiogenesis-related genes can be responsible for apoptosis of chondrocytes and vascularization in tibial GP. Injection of Ex-FABP protein to thiram induced TD chickens decrease the chondrocytes damage and improves vascularization.

Effect of arthroscopic shoulder release on shoulder mobility and bone deformity following brachial plexus birth injury: a systematic review and meta-analysis.

BACKGROUND: Specific information to guide clinical practice is lacking for the effects of arthroscopic release on bone and joint deformities, as well as the additional benefits of tendon transfer, in children with brachial plexus birth injury. The aims of this study were (1) to evaluate changes in shoulder mobility and bone and joint deformity, (2) to evaluate the effect of release with and without tendon transfer on the same outcomes, and (3) to evaluate the perioperative and long-term complications. METHODS: We conducted a systematic review and meta-analysis. Four databases were searched using relevant inclusion and exclusion criteria from inception until May 2020. The quality of articles was evaluated using the Methodological Index for Non-randomized Studies (MINORS) scale. Data regarding patients, interventions, and clinical and radiologic outcomes were reported. RESULTS: Thirteen articles were included: 6 of low quality and 7 of moderate quality separated into 17 studies (266 children). The mean follow-up duration was 32.4 months (standard deviation, 15.2 months). Arthroscopic release significantly improved the Mallet score (standardized mean difference [SMD], 3.1 [95% confidence interval (CI), 1.5-4.7]; P < .001) and passive external rotation (SMD, 3.6 [95% CI, 2.3-4.9]; P = .02). The percentage of humeral head anterior (SMD, 1.3 [95% CI, 0.7-1.9]; P = .003) and glenoid retroversion (SMD, 1.4 [95% CI, 0.9-2]; P = .01) also improved. Descriptive analysis of the data suggested that concomitant tendon transfer further improved mobility. Recurrence of internal-rotation contracture was reported in 8 of 157 children. DISCUSSION: This systematic review showed that arthroscopic release effectively improves both shoulder mobility and bone deformity, with few complications in young children with brachial plexus birth injury. As such, it seems reasonable to propose a stepwise approach starting with a release without transfer.

The Effect of Orally Supplemented Melatonin on Larval Performance and Skeletal Deformities in Farmed Gilthead Seabream (Sparus aurata).

The gilthead seabream larval rearing in continuous light is common in most Mediterranean hatcheries to stimulate larval length growth and increase food consumption. Several studies have shown that continuous light affects larval development and increases the prevalence of skeletal deformities. Melatonin is a crucial pineal neurohormone that displays daily secretion patterns, stimulates cell proliferation and embryonic development in Atlantic salmon and zebrafish, and improves osseointegration in mice and humans. However, no studies have examined the effects of orally supplemented melatonin on skeletal deformities in Sparus aurata larvae. We administered exogenous melatonin to gilthead seabream larvae via enriched rotifers and nauplii of Artemia. Exogenous melatonin induced bone deformities and stimulated parathyroid hormone-related protein-coding gene (PTHrP) mRNA expression. In addition to the melatonin-induced PTHrP high expression level, the recorded non coordinated function of skeletal muscle and bone during growth can be the fountainhead of bone deformities. Both myosin light chain 2 (mlc2) and bone gamma-carboxyglutamate protein-coding gene (bglap) expression levels were significantly affected by melatonin administration in an inverse dose-response manner during the exogenous melatonin administration. This is the first study to report the effect of inducing melatonin bone deformities on Sparus aurata larvae reared under ordinary hatchery conditions.

Do femoral fractures in adult patients with osteogenesis imperfecta imitate atypical femoral fractures? A case series.

Atypical femoral fractures (AFFs) are low-energy femoral fractures with characteristic radiological features and a suspected relation to treatment with bisphosphonate (BP) or denosumab. In osteogenesis imperfecta (OI), BP is currently the drug of choice when medical treatment is indicated. Due to bone deformities, the radiologic appearance of femoral fractures may be different in patients with OI and patients with osteoporosis. We investigated the prevalence and appearance of femoral fractures in a cohort of adult patients with confirmed OI (55 patients, age range 19-69 years, 26 women (47%) and 35 patients (64%) had received BP treatment), who attended the outpatient clinic at Aarhus University Hospital. The fractures were evaluated according to major and minor AFF criteria. In our OI cohort, we found that eight out of 55 patients had suffered a femoral fracture in adult year: five women and three men, aged 25 to 54 years. One patient had OI type I, two had OI type III, four had OI type IV, and one had OI type V. All fractures were associated with no or minimal trauma. Four patients had fractures that fulfilled the criteria of AFFs. Two of the four patients had received long-term BP treatment prior to the fracture and three patients had severe deformities of the femur. Femoral fractures in OI imitate AFFs. This suggests that bone deformity, collagen deficiencies, and alterations in mineralization of bone may cause femoral fractures that imitate AFFs even in the absence of antiresorptive treatment. Bone deformities should be monitored as part of the management of adult patients with OI. Continuous dull or aching pain in the groin or thigh should lead to radiographic examination. The radiologic appearance of femoral fractures may be different in patients with osteogenesis imperfecta (OI) and patients with osteoporosis, thus imitate atypical femoral fractures (AFF). We found that bone deformity, collagen deficiencies, and alterations in bone mineralization may cause femoral fractures that imitate AFFs even in the absence of antiresorptive treatment.

[Rheumatological manifestations in primary immunodeficiency diseases]. / Primer immundeficientiák reumatológiai vonatkozásai.

Primary immune deficiencies (PIDs) are characterized by quantitative and/or functional abnormalities of the immune system elements. Bone and joint abnormalities are not rare in patients with immunodeficiencies. Joint manifestations, of which arthritis is the most common, occur mainly in humoral PIDs (X-linked agammaglobulinemia, common variable immunodeficiency, and IgA deficiency) and occasionally in defects of the phagocyte system (chronic granulomatous disease, glicogen storage diseases). Monoarthritis or oligoarthritis is the usual pattern, caused by Mycoplasma, Staphylococcus, Streptococcus, Pneumococcus or Haemophilus species. These bacteria can provoke not only synovial infections, but also aseptic arthritogenic inflammatory responses. Infectious arthritis or osteomyelitis must be diagnosed and treated with antimicrobial therapy at the earliest. Bone lesions are far less common and usually present as infectious complications in humoral PID. Larger bone manifestations occur in hyper-IgE syndrome and spondyloepiphyseal dysplasia. Short stature is the most common in reticular dysgenesis, in autoimmune polyendocrinopathy candidiasis ectodermal dysplasia and in DNA repair disorders. Knowledge of PID syndromes both enhances the diagnostic capabilities of physicians and provides understanding the pathophysiology of bone and joint abnormalities associated with immune dysfunction. In children and occasionally in adults, a combination of bone and/or joint manifestations and hypogammaglobulinemia may be the first sign of PID. When lymphoproliferative disease or infection can not be proved, investigations for PID should be accomplished. Orv Hetil. 2018; 159(23): 918-928.

Radiographic features of Ollier's disease - two case reports.

BACKGROUND: Ollier's disease is a non-hereditary, benign bone tumor which is usually characterized by presence of multiple radiolucent lesions (enchondromas) in the metaphysis of long bones with unilateral predominance. The disease is a rare clinical entity with 1/100000 occurrence in early childhood. Patients mostly present with multiple hard swellings and deformity of the tubular bones specially hands and feet with leg discrepancy and pathologic fractures. CASE PRESENTATION: We present two cases of Ollier's disease in a 13 years old female and 8 years old boy which had no specific symptoms. The girl had multiple hard swellings and deformity in the fingers of both hands and left toes with left leg deformity and discrepancy. Her plain radiographs demonstrated multiple expansile enchondromas in the phalanges of hands, left toes and metaphyses of upper humeri as well as left leg bones. The enchondromas were also noted in the left iliac bone and anterior end of ribs. The boy had bowing deformity and shortage of left leg with multiple enchondromas in the metaphyses of left femur, left tibia and fibula as well as left iliac bone in his radiographic images. CONCLUSION: Ollier's disease is usually diagnosed by clinical signs and typical location of enchondromas across skeleton in conventional radiography. It usually does not need specific treatment. Well understanding of the clinical manifestation and radiographic features can prevent unnecessary application of other imaging modalities; while other diagnostic imaging modalities like MRI, ultrasound and scintigraphy can be used in complicated and painful conditions.

Application of computed tomography and stereolithography to correct a complex angular and torsional limb deformity in a donkey.

OBJECTIVE: To report the evaluation, surgical planning, and outcome for correction of a complex limb deformity in the tibia of a donkey using computed tomographic (CT) imaging and a 3D bone model. STUDY DESIGN: Case report. ANIMALS: A 1.5-year-old, 110 kg donkey colt with an angular and torsional deformity of the right pelvic limb. METHODS: Findings on physical examimation included a severe, complex deformity of the right pelvic limb that substantially impeded ambulation. Both hind limbs were imaged via CT, and imaging software was used to characterize the bone deformity. A custom stereolithographic bone model was printed for preoperative planning and rehersal of the surgery. A closing wedge ostectomy with de-rotation of the tibia was stabilized with 2 precontoured 3.5-mm locking compression plates. Clinical follow-up was available for 3.5 years postoperatively. RESULTS: CT allowed characterization of the angular and torsional bone deformity of the right tibia. A custom bone model facilitated surgical planning and rehearsal of the procedure. Tibial corrective ostectomy was performed without complication. Postoperative management included physical rehabilitation to help restore muscular function and pelvic limb mechanics. Short-term and long-term follow-up confirmed bone healing and excellent clinical function. CONCLUSION: CT imaging and stereolithography facilitated the evaluation and surgical planning of a complex limb deformity. This combination of techniques may improve the accuracy of the surgeons' evaluation of complex bone deformities in large animals, shorten operating times, and improve outcomes.

Intravenous catheter flanges as an external nasal stent: a novel technique.

External nasal splints are commonly used for immobilization following nasal fracture reduction or rhinoplasty procedures. The literature documents the use of various materials like thermoplastic materials, aluminum, Orthoplast, fiberglass, plaster of Paris, and polyvinyl siloxane. These materials are bulky, time-consuming, expensive, and cumbersome to use, and have been associated with complications including contact dermatitis and epidermolysis. Furthermore, they cannot be retained if the situation warrants prolonged stabilization and immobilization. We introduce a new technique using readily available scalp vein catheter flanges as an external nasal stent. The technique is easy to master, inexpensive, and limits edema and ecchymosis, while stabilizing the reconstructed nasal skeleton in position during the healing period.

Bone Deformities through the Prism of the International Classification of Functioning, Disability and Health in Ambulant Children with Cerebral Palsy: A Systematic Review.

(1) Aim: The aim of this study was to determine the relationship between lower limb bone deformities and body functions, activity, and participation in ambulant children with CP and whether changing bone morphology affects outcomes in these domains. (2) Methods: A systematic literature search (PROSPERO CRD42020208416) of studies reporting correlations between measures of lower limb bone deformities and measures of body function, activity or participation, or post-surgical outcomes in these domains was conducted from 1990 to 2023 in Medline, Scopus, and Cochrane Library. We assessed study quality with the Checklist for Case Series (CCS) and a quality assessment developed by Quebec University Hospital. Meta-analysis was not possible; therefore, descriptive synthesis was performed. (3) Results: A total of 12 of 3373 screened articles were included. No studies evaluated the relationships between bone deformities and activity or participation, or the effect of isolated bone surgery on these domains. Correlations between bone deformities and body functions were poor-to-moderate. Internal hip rotation during gait improved after femoral derotation osteotomy. (4) Conclusions: A shift in paradigm is urgently required for the research and management of bone deformities in children with CP to include the activity and participation domains of the ICF, as well as consider more psychological aspects such as self-image.

Forgotten and found: A case of childhood rickets in the 19th-century settler village of Heuvelton, New York.

OBJECTIVE: To evaluate pathological lesions suggesting the presence of rickets and to place the diagnosis into bioarchaeological and historical context. MATERIALS: The remains of a 3-year ± 12-month-old child discovered during a rescue excavation in Heuvelton, New York. METHODS: We examined the individual macroscopically and conducted a differential diagnosis following established protocols in the palaeopathological literature. RESULTS: Bony change on the orbits, mandible, ribs, clavicles, left scapula, humerii, radii, ulnae, femora, tibiae, fibulae (e.g., porosity, diaphyseal thickening, flaring, bowing), and dental lesions were recorded. CONCLUSIONS: We demonstrate that the child likely presented with vitamin D deficiency rickets during crawling and as they learned to walk. SIGNIFICANCE: This example offers an important contribution to the bioarchaeological literature, as few cases of rickets have been recorded in rural North America using updated diagnostic criteria and little is known of the health and lifeways of early settlers in 19th-century upstate New York. LIMITATIONS: It is not possible to ascertain the precise aetiology of this child's rachitic state and to compare this individual with others in the population. SUGGESTIONS FOR FURTHER RESEARCH: Examination (and re-assessment) of other North and South American skeletal assemblages for signs of vitamin D deficiency rickets following current bioarchaeological standards.

Parameter-based patient-specific restoration of physiological knee morphology for optimized implant design and matching.

Total knee arthroplasty (TKA) patients may present with genetic deformities, such as trochlear dysplasia, or deformities related to osteoarthritis. This pathologic morphology should be corrected by TKA to compensate for related functional deficiencies. Hence, a reconstruction of an equivalent physiological knee morphology would be favorable for detailed preoperative planning and the patient-specific implant selection or design process. A parametric database of 673 knees, each described by 36 femoral parameter values, was used. Each knee was classified as pathological or physiological based on cut-off values from literature. A clinical and a mathematical classification approach were developed to distinguish between affected and unaffected parameters. Three different prediction methods were used for the restoration of physiological parameter values: regression, nearest neighbor search and artificial neural networks. Several variants of the respective prediction model were considered, such as different network architectures. Regarding all methods, the model variant chosen resulted in a prediction error below the parameters' standard deviation, while the regression yielded the lowest errors. Future analyses should consider other deformities, also of tibia and patella. Furthermore, the functional consequences of the parameter changes should be analyzed.

Radiographic evaluation of ulnar deformity in patients with hereditary multiple osteochondroma and its relationship with radial head dislocation.

INTRODUCTION: In patients who have hereditary multiple osteochondroma (HMO), progressive deformity of the forearm skeleton may lead to radial head dislocation. The latter is permanent, painful and causes weakness. HYPOTHESIS: There is a relationship between the amount of ulnar deformity and the presence of radial head dislocation in patients with HMO. MATERIALS AND METHODS: This was a cross-sectional radiographic study comprising an analysis of anterior-posterior (AP) and lateral x-rays of 110 forearms in children having a mean age of 8 years and 4 months who were followed for HMO between 1961 and 2014. Four factors reflecting on the ulnar deformity in the coronal plane were investigated on the AP view and three factors in the sagittal plane were investigated on the lateral view to identify any relationship between ulnar deformity and radial head dislocation. The forearms were separated into two groups: with radial head dislocation (26 cases) and without radial head dislocation (84 cases). RESULTS: Ulnar bowing, intramedullary angle of ulnar bowing, tangent ulnar angle and overall ulnar angle were significantly higher in the group of children who had a radial head dislocation (0.05 vs 0.03, p<.001; 161 vs 167, p<001; 156 vs 162, p<001; 50 vs 30, p<.001) in univariate and multivariate analyses. DISCUSSION: Ulnar deformity, evaluated using the method described here, is more often associated with radial head dislocation than other previously published radiological parameters. This provides new insight on this phenomenon and may help to determine which factors are associated with radial head dislocation and how to prevent it. CONCLUSION: Ulnar bowing in the context of HMO, especially when evaluated on AP radiographs, is significantly associated with radial head dislocation. LEVEL OF EVIDENCE: III; case-control study.

Enhanced osteoblastic differentiation of parietal bone in a novel murine model of mucopolysaccharidosis type II.

Mucopolysaccharidosis type II (MPS II, OMIM 309900) is an X-linked disorder caused by a deficiency of lysosomal enzyme iduronate-2-sulfatase (IDS). The clinical manifestations of MPS II involve cognitive decline, bone deformity, and visceral disorders. These manifestations are closely associated with IDS enzyme activity, which catalyzes the stepwise degradation of heparan sulfate and dermatan sulfate. In this study, we established a novel Ids-deficient mice and further assessed the enzyme's physiological role. Using DNA sequencing, we found a genomic modification of the Ids genome, which involved the deletion of a 138-bp fragment spanning from intron 2 to exon 3, along with the insertion of an adenine at the 5' end of exon 3 in the mutated allele. Consistent with previous data, our Ids-deficient mice showed an attenuated enzyme activity and an enhanced accumulation of glycosaminoglycans. Interestingly, we noticed a distinct enlargement of the calvarial bone in both neonatal and young adult mice. Our examination revealed that Ids deficiency led to an enhanced osteoblastogenesis in the parietal bone, a posterior part of the calvarial bone originating from the paraxial mesoderm and associated with an enhanced expression of osteoblastic makers, such as Col1a and Runx2. In sharp contrast, cell proliferation of the parietal bone in these mice appeared similar to that of wild-type controls. These results suggest that the deficiency of Ids could be involved in an augmented differentiation of calvarial bone, which is often noticed as an enlarged head circumference in MPS II-affected individuals.

Osteolytic Bone Loss and Skeletal Deformities in a Mouse Model for Early-Onset Paget's Disease of Bone with PFN1 Mutation Are Treatable by Alendronate.

A novel osteolytic disorder due to PFN1 mutation was discovered recently as early-onset Paget's disease of bone (PDB). Bone loss and pain in adult PDB patients have been treated using bisphosphonates. However, therapeutic strategies for this specific disorder have not been established. Here, we evaluated the efficiency of alendronate (ALN) on a mutant mouse line, recapitulating this disorder. Five-week-old conditional osteoclast-specific Pfn1-deficient mice (Pfn1-cKOOCL) and control littermates (33 females and 22 males) were injected with ALN (0.1 mg/kg) or vehicle twice weekly until 8 weeks of age. After euthanizing, bone histomorphometric parameters and skeletal deformities were analyzed using 3D µCT images and histological sections. Three weeks of ALN administration significantly improved bone mass at the distal femur, L3 vertebra, and nose in Pfn1-cKOOCL mice. Histologically increased osteoclasts with expanded distribution in the distal femur were normalized in these mice. Geometric bone shape analysis revealed a partial recovery from the distal femur deformity. A therapeutic dose of ALN from 5 to 8 weeks of age significantly improved systemic bone loss in Pfn1-cKOOCL mice and femoral bone deformity. Our study suggests that preventive treatment of bony deformity in early-onset PDB is feasible.

Clinical characteristics and in silico analysis of congenital pseudarthrosis of the tibia combined with neurofibromatosis type 1 caused by a novel NF1 mutation.

Congenital pseudarthrosis of the tibia (CPT) is a rare congenital bone malformation, which has a strong relationship with Neurofibromatosis type 1 (NF1). NF1 is an autosomal dominant disease leading to multisystem disorders. Here, we presented the genotypic and phenotypic characteristics of one unique case of a five-generation Chinese family. The proband was CPT accompanied with NF1 due to NF1 mutation. The proband developed severe early-onset CPT combined with NF1 after birth. Appearance photos and X-ray images of the left limb of the proband showed significant bone malformation. Slit-lamp examination showed Lisch nodules in both eyes of the proband. Whole-exome sequencing (WES) and Sanger sequencing confirmed the truncation variant of NF1 (c.871G>T, p. E291*). Sequence conservative and evolutionary conservation analysis indicated that the novel mutation (p.E291*) was highly conserved. The truncated mutation led to the loss of functional domains, including CSRD, GRD, TBD, SEC14-PH, CTD, and NLS. It may explain why the mutation led to a severe clinical feature. Our report expands the genotypic spectrum of NF1 mutations and the phenotypic spectrum of CPT combined with NF1.

Dental caries and periodontitis risk factors in cleft lip and palate patients.

Cleft lip and palate (CLP) is the most common congenital facial malformation and has a significant developmental, physical, and psychological impact on those with the deformity and their families. Risk factors contributing to CLP may conclude as genetic factors and environmental factors. The anatomical and morphological abnormalities related to CLP are favorable for dental plaque accumulation on the tooth surface. Therefore, patients with CLP undergo poorer oral hygiene and higher susceptibility to dental caries and periodontitis. In this review, we aim to conclude and update probable causes underlying the association between CLP and poor oral health and provide novel ideas of targeted early prevention for such oral diseases.

Evaluation of the Femoral and Tibial Alignments in Dogs: A Systematic Review.

The assessment of limb conformations in veterinary orthopedics is a significant tool used to determine the quantitative degree of limb malalignments. As in human medicine, various studies have been undertaken in veterinary medicine to determine the values in different dog breeds and to determine the values in healthy and diseased dogs. The objectives of this systematic review were to evaluate the reported values in these articles separately, to compile the standard values, and to compare the values between dogs with and without various orthopedic diseases. All of the articles included in this systematic review were collected by screening the Scopus, PubMed/Medline, and Web of Science databases. The articles were evaluated according to the measured alignments, imaging methods, dog breeds, and the health status of the dogs. Each alignment was investigated separately, and the results are summarized. Twenty-nine studies were included in this systematic review. According to the studies, in the frontal plane, distal femoral alignments, as well as proximal and distal tibial alignments, corresponded to the severity of the medial patellar luxation. The difference between affected and non-affected dogs with cranial cruciate ligament disease was limited to the proximal tibial alignments in the sagittal plane.

Progressive pseudorheumatoid dysplasia misdiagnosed as juvenile idiopathic arthritis: a case report.

BACKGROUND: Progressive pseudorheumatoid dysplasia is a rare, autosomal recessively inherited, noninflammatory musculoskeletal disorder caused by mutations occurring in the WNT1-inducible signaling pathway protein 3 gene. Joint cartilage is the primary site of involvement, leading to arthralgia, joint stiffness, contractures, enlargement of the epiphyses and metaphysis of the hand joints, spinal abnormalities, short stature, early osteoarthritis, and osteoporosis. Juvenile idiopathic arthritis is the most common chronic rheumatic disease in childhood and has unknown etiology. Clinical features of progressive pseudorheumatoid dysplasia resemble those of juvenile idiopathic arthritis. Patients with progressive pseudorheumatoid dysplasia are usually misdiagnosed as having juvenile idiopathic arthritis. CASE PRESENTATION: A 13-year-old Yemeni female presented to the rheumatology clinic with a history of joint pains, bone pains, and bone deformity for 7 years. Weight and height were below the third percentiles. There was no tender swelling of metacarpophalangeal and interphalangeal joints, and she presented with scoliosis. Radiographs of the hands revealed the widening of the epiphyses. Progressive pseudorheumatoid dysplasia was suspected, and genetic testing for WNT1-inducible signaling pathway protein 1, 2, and 3 was requested with these findings. A homozygous, likely pathogenic variant was identified in the WNT1-inducible signaling pathway protein 3 gene, which confirmed our diagnosis. CONCLUSION: Progressive pseudorheumatoid dysplasia is a rare form of spondyloepimetaphyseal dysplasia and is clinically misdiagnosed as juvenile idiopathic arthritis. It is crucial to consider progressive pseudorheumatoid dysplasia, especially in patients with standard inflammatory markers who are being followed up for juvenile idiopathic arthritis and not improving with antirheumatic intervention.

Clinical Presentation, Imaging Features, and Management of Müller-Weiss Disease.

Müller-Weiss disease (MWD) is a rare condition of unclear pathogenesis that causes navicular bone collapse and fragmentation. MWD can be challenging to diagnose and presents with midfoot and hindfoot pain and deformities. Although its incidence is unknown, MWD more commonly affects women aged between 40 and 60 years. This study reviews and summarizes the published literature on MWD to allow a better understanding of the pathomechanics, presentation, imaging modalities, and treatment options for MWD.