Bruck syndrome: A rare case presentation with isolated lower extremity contractures and multiple postoperative peri-implant fractures

Bruck syndrome, characterized by congenital brittle bones and multiple joint contractures, is a rare variant of osteogenesis imperfecta. Here, we report the case of a 7-year-old male patient who presented with a fractured shaft of the femur following trivial trauma. He was diagnosed case of arthrogryposis multiplex congenital with deformities involving both knees and ankle. He had a history of bilateral femoral fractures during birth. Due to the knee contracture and a narrow canal, we fixed the fracture by plating. However, the patient developed peri-implant fractures proximal to the plate. Due to the presence of multiple peri-implant fractures and joint contractures, we diagnosed the patient with Bruck’s syndrome and initiated intravenous bisphosphonate therapy. Subsequently, the patient developed one more fracture in the contralateral femur. This case signifies the importance of screening all patients with multiple congenital contractures and recurrent fractures for Bruck syndrome.

Microhomology-Mediated Nonhomologous End Joining Caused Rearrangement of EMD and FLNA in Emery-Dreifuss Muscular Dystrophy

Background: Emery–Dreifuss muscular dystrophy (EDMD) is a rare disease characterized by early joint contractures, slowly progressive muscular dystrophy, and cardiac involvement, which includes arrhythmia, dilated cardiomyopathy, hypertrophic cardiomyopathy, heart failure, and sudden death.Methods: Clinical data of the proband and family members were collected. The next-generation sequencing technology was used to analyze the pathogenic variants and copy number variations. Polymerase chain reaction was used to sequence the breakpoints of gene locus rearrangements.Results: Here, we report two siblings with EDMD in a family. The proband, a 17-year-old boy, manifested a dilated right heart, bradycardia, mild muscle weakness, and joint contractures. His younger brother only showed a mild bowing limitation with elevated creatine kinase. Next-generation sequencing revealed the complete deletion of EMD and a rearrangement in FLNA (exon29_48dup) in these two patients. The EMD deletion and partial FLNA duplication were accompanied by a 5 bp overlap (GTCCC) on the background of the FLNA-EMD inversion. These findings support the pathogenic mechanism of microhomology-mediated nonhomologous end joining.Conclusion: We report two siblings with complete EMD deletion and FLNA duplication in a family. A microhomology-mediated nonhomologous end joining event involving EMD and FLNA acts as the underlying mechanism.

Effectiveness of 3D-printed orthoses for traumatic and chronic hand conditions: A scoping review

Background In the field of orthotics, the use of three-dimensional (3D) technology as an alternative to the conventional production process of orthoses is growing. Purpose This scoping review aimed to systematically map and summarize studies assessing the effectiveness of 3D-printed orthoses for traumatic and chronic hand conditions, and to identify knowledge gaps. Methods The Cochrane Library, PubMed, EMBASE, CINAHL, Web of Science, IEEE, and PEDro were searched for studies of any type of 3D-printed orthoses for traumatic and chronic hand conditions. Any outcome related to the effectiveness of 3D-printed orthoses was considered. Two reviewers selected eligible studies, charted data on study characteristics by impairment type, and critically appraised the studies, except for case reports/series. Results Seventeen studies were included: four randomized controlled trials, four uncontrolled trials, four case series and five case reports. Only three studies had a sample size >20. Impairments described were forearm fractures (n = 5), spasticity (n = 5), muscle weakness (n = 4), joint contractures (n = 2) and pain (n = 1). Four poor to fair quality studies on forearm fractures supported the effectiveness of 3D-printed orthoses on hand function, functionality, and satisfaction. One good quality study on spasticity demonstrated the effectiveness of 3D-printed orthoses on hand function. One poor quality pain study reported limited positive effects on satisfaction. Studies on muscle weakness and joint contractures showed no benefits. Conclusion Current literature addressing the effectiveness of 3D-printed orthoses for traumatic and chronic hand conditions consists primarily of small and poor methodological quality studies. There is a need for well-designed controlled trials including patient-related outcomes, production time and cost analyses.

First Report of SYNE1 Arthrogryposis Multiplex Congenita From Saudi Arabia With a Novel Mutation: A Case Report

Introduction: Arthrogryposis multiplex congenita (AMC), is a rare congenital condition characterized by multiple joint contractures often affecting both arms and legs which start prior to birth.Patient concern: The pediatrician attending delivery noticed the baby being dysmorphic with generalized hypotonia and multiple joint contractures at birth with antenatal history of reduced fetal movement. The patient was admitted to the neonatal intensive care unit for strict observation and further work up.Diagnosis: Whole Exome Sequencing was performed and identified the novel homozygous variant in the synaptic nuclear envelope protein1 [SYNE1] gene.Intervention: Multidisciplinary team were involved in the management plan, supportive care was the mainstay of treatment.Outcomes: Due to feeding difficulties and on and off requirement of oxygen support, the patient remained hospitalized for a long period then was discharged home on supplemental oxygen and gastrostomy tube feeding.Conclusions: AMC3 should be suspected in patients with decreased fetal movements, dysmorphic features, hypotonia, and arthrogryposis. Molecular testing of the SYNE1 gene confirms diagnosis.

A novel TAB2 mutation detected in a putative case of frontometaphyseal dysplasia

Frontometaphyseal dysplasia (FMD) type 2 is an autosomal dominant disorder characterized by skeletal abnormalities and caused by MAP3K7 mutation. We identified a novel missense mutation in TAB2 associated with FMD in a child with multiple congenital malformations. This case was diagnosed as FMD due to joint contractures and bone deformities. This is the third report of FMD caused by a TAB2 mutation located in the TAK1-binding region.

Psychometric validation of the Chinese version of the PaArticular Scales among elderly residents in long-term care facilities with joint contractures

Background Joint contractures, which affect activity, participation, and quality of life, are common complications of neurological conditions among elderly residents in long-term care facilities. This study examined the reliability and validity of the Chinese version of the PaArticular Scales in a population with joint contractures. Methods A cross-sectional study design was used. The sample included elderly residents older than 64 years with joint contractures in an important joint who had lived at one of 12 long-term care facilities in Taiwan for more than 6 months (N = 243). The Chinese version of the PaArticular Scales for joint contractures was generated from the English version through five stages: translation, review, back-translation, review by a panel of specialists, and a pretest. Test-retest reliability, internal consistency reliability, construct validity, and criterion validity were evaluated, and the results were compared with those for the World Health Organization Quality of Life scale and the World Health Organization Disability Assessment Schedule. Results The Chinese version of the PaArticular Scales had excellent reliability, with a Cronbach α coefficient of 0.975 (mean score, 28.98; standard deviation, 17.34). An exploratory factor analysis showed three factors and one factor with an eigenvalue > 1 that explained 75.176 and 62.83 % of the total variance in the Activity subscale and Participation subscale, respectively. The subscale-to-total scale correlation analysis showed Pearson correlation coefficients of 0.881 for the Activity subscale and 0.843 for the Participation subscale. Pearson’s product-moment correlation revealed that the correlation coefficient (r) between the Chinese version of the PaArticular Scales and the World Health Organization Disability Assessment Schedule was 0.770, whereas that for the World Health Organization Quality of Life scale was − 0.553; these values were interpreted as large coefficients. Conclusions The underlying theoretical model of the Chinese version of the PaArticular Scales functions well in Taiwan and has acceptable levels of reliability and validity. However, the Chinese version must be further tested for applicability and generalizability in future studies, preferably with a larger sample and in different clinical domains.

Considerations for Hand Surgery in Patients With Scleroderma

Systemic sclerosis (scleroderma, SSc) is an autoimmune disease that causes significant dysfunction to multiple organ systems, including the musculoskeletal system. It poses significant challenges to the hand surgeon, including calcinosis, ischemic changes, Raynaud phenomenon, tendinopathies, synovitis, and joint contractures. Patients with SSc also suffer from multiorgan dysfunction, which makes them high-risk surgical patients. The hand surgeon must understand the pathophysiology, treatment strategies, and special operative considerations required in this population to avoid complications and help maintain or improve hand function.

Usage of External Fixation in the Treatment of Adult Patients with Knee Joint Stiffness: Review

Relevance. Knee contractures have an impact on quality of life and are also a common cause of disability. The use of external fixation devices has a certain place in the treatment of this pathology.Purpose. Using the world literature, to identify the modern position, problems, and prospectives of external fixation in the treatment of knee flexion and extension contractures in adult patients.Methods. EMBASE, Medline, Google Scholar, PubMed, e-LIBRARY, and Cyber resources were used. The analysis included publications relative treatment of knee joint stiffness using external fixation in patients over 18 years old, regardless of gender. At analysis several criterial were used: frame ability to provide movements in the knee joint according with its natural kinematics (biomechanics), stable fixation of the femur and tibia, and possibility inserting wires and halfpins in projection of Reference Positions (RP).Results. The devices used in the treatment of knee joint contractures in adult patients were conditionally divided, depending on the type of hinge, into 4 groups: non-hinged, uniaxial, reproducing, and virtual. It has been established that only orthopedic hexapods, based on virtual hinge, can meet all of the criteria mentioned above. However the technology of any orthopedic hexapod hardware and software usage for the treatment of contractures of the knee joint, was not developed till now.Conclusion. The necessity of developing hex-based technology for treatment patients with knee joint contractures was justified by world literature review. Hexapod hardware must provide possibilities of any inclination angle of any ring, and struts fixation not only to base and mobile rings, but to stabilizing as well. Software should be equipped with multi-total residual option. Ortho-SUV Frame (OSF) meets these requirements.