Introduction. Congenital scoliosis is a prevalent congenital spinal deformity, more frequently encountered than congenital lordosis or kyphosis. The prevailing belief is that most instances of congenital scoliosis are not hereditary but rather stem from issues in fetal spine development occurring between the 5th and 8th weeks of pregnancy. However, it has been linked to several genes in current literature. Our goal was to explore potential pathways through an exhaustive bioinformatics analysis of genes related to congenital scoliosis. Method. The literature from the 1970s to February 2024 was surveyed for genes associated with CS, and 63 genes were found to be associated with AIS out of 1743 results. These genes were analyzed using DAVID Bioinformatics. Result. Our pathway analysis has unveiled several significant associations with congenital scoliosis. Notably, “Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate” (P-Value:8.8E-3, Fold Enrichment: 20.6), “Central carbon metabolism in cancer” (P-Value:1.3E-3, Fold Enrichment: 10.3), and “Lysine degradation” (P-Value: 9.0E-3, Fold Enrichment: 9.1) emerge as statistically significant pathways. Additionally, “Endocrine resistance” (P-Value:4.4E-3, Fold Enrichment:7.4) and”EGFR tyrosine kinase inhibitor resistance” (P-Value: 1.7E-2, Fold Enrichment:7.3) pathways are noteworthy. These findings suggest a potential involvement of these pathways in the biological processes underlying congenital scoliosis. Furthermore, “Signaling pathways regulating pluripotency of stem cells” (P-Value:4.0E-4, Fold Enrichment:7.1), “Notch signaling pathway” (P-Value:6.7E-2, Fold Enrichment: 7.0), and “TGF-beta signaling pathway” (P-Value:6.2E-3, Fold Enrichment: 6.7) exhibit a less pronounced yet intriguing association that may warrant further investigation. Conclusion. In conclusion, our comprehensive analysis of the genetic etiology of congenital scoliosis has revealed significant associations with various pathways, shedding light on potential underlying biological mechanisms. While further research is needed to fully understand these associations and their implications, our findings provide a valuable starting point for future investigations into the management and treatment of congenital scoliosis

Pelvic bone defect in patients with severe congenital dysplasia of the hip (CDH) lead to abnormalities in lumbar spine and lower limb alignment that can determine total hip arthroplasty (THA) patients' outcome. These variables may be different in uni- or bilateral CDH. We compared the clinical outcome and the spinopelvic and lower limb radiological changes over time in patients undergoing THA due to uni- or bilateral CHD at a minimum follow-up of five years. Sixty-four patients (77 hips) undergoing THA due to severe CDH between 2006 and 2015 were analyzed: Group 1 consisted of 51 patients with unilateral CDH, and group 2, 113 patients (26 hips) with bilateral CDH. There were 32 females in group 1 and 18 in group 2 (p=0.6). The mean age was 41.6 years in group 1 and 53.6 in group 2 (p<0.001). We compared the hip, spine and knee clinical outcomes. The radiological analysis included the postoperative hip reconstruction, and the evolution of the coronal and sagittal spinopelvic parameters assessing the pelvic obliquity (PO) and the sacro-femoro-pubic (SFP) angles, and the knee mechanical axis evaluating the tibio-femoral angle (TFA). At latest follow-up, the mean Harris Hip Score was 88.6 in group 1 and 90.7 in group 2 (p=0.025). Postoperative leg length discrepancy of more than 5 mm was more frequent in group 1 (p=0.028). Postoperative lumbar back pain was reported in 23.4% of the cases and knee pain in 20.8%, however, there were no differences between groups. One supracondylar femoral osteotomy and one total knee arthroplasty were required. The radiological reconstruction of the hip was similar in both groups. The PO angle improved more in group 1 (p=0.01) from the preoperative to 6-weeks postoperative and was constant at 5 years. The SFP angle improved in both groups but there were no differences between groups (p=0.5). 30 patients in group 1 showed a TFA less than 10º and 17 in group 2 (p=0.7). Although the clinical outcome was better in terms of hip function in patients with bilateral CDH than those with unilateral CDH, the improvement in low back and knee pain was similar. Patients with unilateral dysplasia showed a better correction of the PO after THA. All spinopelvic and knee alignment parameters were corrected and maintained over time in most cases five years after THA

Aims & Background. Congenital Talipes Equinovarus (CTEV) is the most common congenital musculoskeletal birth defect affecting 1 in 1000 births per annum. We have compared our surgical results to the British Society of Children's Orthopaedics (BSCOS) published guidelines. Methods. Between, 2006–16, patients who were referred for treatment of pathological CTEV were audited. Data from a combination of Clinical Portal, Orthotic Patient Administration System and Surgical Elogbook were assessed. In addition, the degree of deformity was classified by the Harrold & Walker method at the time of diagnosis (senior author). Most of this information was recorded prospectively and analysed retrospectively. Ponseti technique was the method of treatment. Results. 96 patients assessed (133 feet). There were 78 males and 18 females, 37 patients were affected bilaterally and 11 had associated syndromes. There were 23 Harrold & Walker (H&W) 1, 28 H&W 2 and 82 H&W 3 classification feet. Average time period in Ponseti boots and bars was 14.4 months (95% CI 12.9–15.9), average time in all types of bracing of was 17.1 months (95% CI 14.8–14.8). Number and rate of surgeries performed were as follows: 77 Tendoachilles release (63.1%), 19 Tibialis Anterior Transfer (5.6%), 15 Radical Release (12.3%), revision 25 Surgery (20.5%) & 5 Abductor Hallucis Release (4.1%). Conclusion. The audit confirms that the unit meets most of the current BSCOS guidelines. All surgical procedures apart from radical release surgery fall within accepted limits. This may be due, in part, to the syndromal cases. We do however demonstrate a significantly reduced average time period in bracing compared to that recommended by BSCOS. There are multiple reasons for this discrepancy including non-compliance and poor splint tolerance (child refusing to use). We feel this work demonstrates a reduced period in bracing can be achieved whilst maintaining standards of treatment

Congenital talipes equinovarus (CTEV), also known as club foot or talipes is a common congenital disorder. Parents are using the Internet more and more as a source of information about health care. Unfortunately, the quality of health care information on the Internet varies. This study looked at information available to parents using two instruments for judging the equality of information on the internet. The top five search engines were searched on Google. Three of these were also included in the top 50 sites in Ireland so these 3 sites were used. The phrases CTEV and club foot were searched from all 3 platforms. Websites were then scrutinized using the HON code and the DISCERN tool. 54 organic sites were found for the 3 search engines using the key word club foot. For the key word CTEV 55 matches were returned for the three search engines. 4 websites displayed the HON code. Using the discern tool CTEV websites had a mean score of 60 with a standard deviation of 17. While club foot had a mean score of 56.8 with a standard deviation of 13. Max score 80. Large volumes of information are available to parents on the Internet. Often parents find comfort in sharing experiences and feel empowered by learning about their children's illnesses. However, information provided on the interned can also be ambiguous and disingenuous. Practitioners should be aware of a number of key websites that parents can be directed towards

The purpose of this study was to describe the clinical course of patients with Down's syndrome (DS) and congentital talipes equinovarus (CTEV) treated with the Ponseti regimen.

The members of the United Kingdom Ponseti Users Group were contacted to provide details of patients with DS and CTEV, whom they had treated using the Ponseti regimen. Nine patients (13 feet: 7 right, 6 left) were identified, and the case notes were reviewed. Six patients were male, 3 female. In all but one case, the DS was diagnosed postnatally. Co-morbidites included atrioventricular septal defect, hearing deficiencies and plagiocephaly. The initial mean Pirani score was 4.5 (range 3.0 to 6.0). Casting was commenced at a mean of 25 days (range 12–84 days). The mean number of casts required was 7 (range 3 to 12), taking a mean of 6.5 weeks (range 3–12) to achieve correction. 6 of the 13 feet (46%) required a tendoachilles tenotomy, and 2 of 13 (15%) required re-casting. No patients have required a tibialis anterior transfer, soft tissue releases or bony procedures, at a mean follow up of 44 months (9–65 months).

The results of the Ponseti regimen have not been described in patients with DS. From this small series, we can conclude that all patients responded to the regime. A tendoachilles tenotomy was required in just under half, and further casting was required in only 15% of the treated feet. No patient has required further surgery. The tenotomy rate is lower than in most series, but otherwise, the results are comparable to those for idiopathic CTEV for which the Ponseti regimen has become the gold standard. Parents of children with DS can be reassured that in the short term their feet will respond well to Ponseti treatment

Introduction and Objective. Virtual Surgical Planning (VSP) is becoming an increasingly important means of improving skills acquisition, optimizing clinical outcomes, and promoting patient safety in orthopedics and traumatology. Pediatric Orthopedics (PO) often deals with the surgical treatment of congenital or acquired limbs and spine deformities during infancy. The objective is to restore function, improve aesthetics, and ensure proper residual growth of limbs and spine, using osteotomies, bone grafts, age-specific or custom-made hardware and implants. Materials and Methods. Three-dimensional (3D) digital models were generated from Computed Tomography (CT) scans, using free open-source software, and the surgery was planned and simulated starting from the 3D digital model. 3D printed sterilizable models were fabricated using a low-cost 3D printer, and animations of the operation were generated with the aim to accurately explain the operation to parents. All procedures were successfully planned using our VSP method and the 3D printed models were used during the operation, improving the understanding of the severely abnormal bony anatomy. Results. The surgery was precisely reproduced according to VSP and the deformities were successfully corrected in eight cases (3 genu varum in Blount disease, 2 coxa vara in pseudo achondroplasia, 1 SCFE, 1 missed Monteggia lesion and 1 post-traumatic forearm malunion deformity). In one case, a focal fibrocartilaginous dysplasia, the intraoperative intentional undersizing of the bone osteotomy produced an incomplete correction of a congenital forearm deformity. Conclusions. Our study describes the application of a safe, effective, user-friendly, VSP process in PO surgery. We are convinced that our study will stimulate the widespread adoption of this technological innovation in routine clinical practice for the treatment of rare congenital and post-traumatic limb deformities during childhood

Distal arthrogryposis (DA) is a collection of rare developmental disorders characterized by congenital joint contractures. Most arthrogryposis mutations are in muscle- and joint-related genes, and the anatomical defects originate cell-autonomously within the musculoskeletal tissues. However, gain-of-function (GOF) mutations in PIEZO2, a principal mechanosensor in somatosensation, cause DA subtype 5 via unknown mechanisms. We show that expression of a GOF PIEZO2 mutation in proprioceptive sensory neurons mainly innervating muscle spindles and tendons is sufficient to induce DA5-like phenotypes in mice. Overactive PIEZO2 causes anatomical defects via increased activity within the peripheral nervous system during postnatal development. Surprisingly, overactive PIEZO2 is likely to cause joint abnormalities via increased exocytosis from sensory neuron endings without involving motor circuitry. This reveals a role for somatosensory neurons: excessive mechanosensation within these neurons disrupts musculoskeletal development. We also present proof-of-concept that Botox injection or dietary treatment can counteract the effect of overactive PIEZO2 function to evade DA-like phenotypes in mice when applied during a developmental critical period. These approaches might have clinical applications. Beyond this, our findings call attention to the importance of considering sensory mechanotransduction when diagnosing and treating other musculoskeletal disorders. Acknowledgements: Our work is supported by National Institutes of Health grant (R35 NS105067, R01 DE022358, R25 SC3GM127195, R25 GM07138, R01GM133845, intramural) and Howard Hughes Medical Institute

Introduction. Current treatments of rotational deformities of long bones in children are osteotomies and fixations. In recent years, the use of guided growth for correction of rotational deformities has been reported in several pre-clinical and clinical studies. Various techniques have been used, and different adverse effects, like growth retardation and articular deformities, have been reported. We tested a novel plate concept intended for correction of rotational deformities of long bones by guided growth, with sliding screw holes to allow for longitudinal growth, in a porcine model. Method. Twelve, 12-week-old female porcines were included in the study. Surgery was performed on the left femur. The right femur was used as control. Plates were placed distally to induce external rotation, as longitudinal growth occurred. CT-scans of the femurs were processed to 3-D models and used for measuring rotation. Result. The plates rotated as intended in all 12 porcines. One porcine was excluded due to congenital deformity of the proximal part of the femurs. Two porcines had cut-out of the proximal screw on the lateral side, observed at the end of the intervention. These two porcines were included in the results. We observed a Δrotation of 5.7° ± 2° in external direction (CI: 3.7°– 7.7°). ΔFemur length was -0.4 cm [-0.7 cm – 0 cm] equal to 1.5% shortening of the operated femur. No significant difference was observed in coronal or sagittal plane. Conclusion. Significant external rotation was achieved with minimal effect on longitudinal growth. While the use of guided growth for correction of rotational deformities is already being used clinically, it is still to be considered an experimental procedure with sparse evidence. This study shows promising results for the feasibility of the method in a large animal model and is an important first step in validating the technique and detecting possible adverse effects, before future clinical studies

Introduction and Objective. Pectus carinatum is a common congenital anterior chest wall deformity, characterized by outward protrusion of sternum and ribcage resulted from rib cartilage overgrowth. The protrusion may be symmetrical or asymmetrical. Pectus carinatum association with mitral valve diseases, Marfan's syndrome, and scoliosis enforces that poor connective tissue development as possible etiological factor. Despite the coexistence of pectus carinatum and scoliosis has attracted the attention of some researchers, the association between pectus carinatum and the other spinal deformities has not been studied comprehensively. The frequency of spinal deformity in patients with pectus carinatum and the mutual relationships of their subtypes are needed to be studied to determine the epidemiological character of the combined deformity and to plan patient evaluation and management. Our study aimed to investigate the association, define the incidence and evaluate the characteristics between different types of spinal deformities and Pectus carinatum. Materials and Methods. Radiological and physical examinations were performed for 117 pectus carinatum patients in Marmara university hospital/Turkey in the years between 2006 and 2013. The incidence of spinal deformity was calculated. Spinal deformities were classified as scoliosis, kyphosis, kyphoscoliosis, and spinal asymmetry, whereas pectus carinatum were subdivided into symmetric and asymmetric subgroups. The relationship between spinal deformities and the symmetrical-asymmetric subtype of pectus excavatum was statistically analyzed, Pearson chi-square test was used to compare the association of qualitative data. The significance level was accepted as p <0.05. Lastly, the angular values of the deformities of scoliosis and kyphosis patients were measured using the Cobb method. In this way, the magnitude of the deformity was given as a numerical value. Results. Spinal deformity was detected in 23 (17 symmetrical PE and 6 asymmetrical PE) of 117 pectus excavatum patients. Scoliosis and kyphosis were seen equally in symmetrical pectus carinatum, whereas scoliosis was seen in 33.3% and kyphosis in 50% in asymmetric pectus carinatum patients, respectively. However, there were no statistically significant differences in the distribution of scoliosis and kyphosis in patients with symmetrical and asymmetrical PE. Idiopathic scoliosis constituted the most common scoliosis group. Congenital kyphosis was not found in any kyphosis patient. The average Cobb angle of scoliosis patients was 32°, and the mean T2-T12 kyphosis angle of these patients was 55.5°, while the average kyphosis angle of those with kyphosis deformity was 71°. Conclusions. Patients with Pectus carinatum have a higher incidence of spinal deformities than the normal population. Such high concomitant incidence should be taken under consideration in evaluating and treating patients presenting with either deformity

Paediatric musculoskeletal (MSK) disorders often produce severe limb deformities, that may require surgical correction. This may be challenging, especially in case of multiplanar, multifocal and/or multilevel deformities. The increasing implementation of novel technologies, such as virtual surgical planning (VSP), computer aided surgical simulation (CASS) and 3D-printing is rapidly gaining traction for a range of surgical applications in paediatric orthopaedics, allowing for extreme personalization and accuracy of the correction, by also reducing operative times and complications. However, prompt availability and accessible costs of this technology remain a concern. Here, we report our experience using an in-hospital low-cost desk workstation for VSP and rapid prototyping in the field of paediatric orthopaedic surgery. From April 2018 to September 2022 20 children presenting with congenital or post-traumatic deformities of the limbs requiring corrective osteotomies were included in the study. A conversion procedure was applied to transform the CT scan into a 3D model. The surgery was planned using the 3D generated model. The simulation consisted of a virtual process of correction of the alignment, rotation, lengthening of the bones and choosing the level, shape and direction of the osteotomies. We also simulated and calculated the size and position of hardware and customized massive allografts that were shaped in clean room at the hospital bone bank. Sterilizable 3D models and PSI were printed in high-temperature poly-lactic acid (HTPLA), using a low-cost 3D-printer. Twenty-three operations in twenty patients were performed by using VSP and CASS. The sites of correction were: leg (9 cases) hip (5 cases) elbow/forearm (5 cases) foot (5 cases) The 3D printed sterilizable models were used in 21 cases while HTPLA-PSI were used in five cases. customized massive bone allografts were implanted in 4 cases. No complications related to the use of 3D printed models or cutting guides within the surgical field were observed. Post-operative good or excellent radiographic correction was achieved in 21 cases. In conclusion, the application of VSP, CASS and 3D-printing technology can improve the surgical correction of complex limb deformities in children, helping the surgeon to identify the correct landmarks for the osteotomy, to achieve the desired degree of correction, accurately modelling and positioning hardware and bone grafts when required. The implementation of in-hospital low-cost desk workstations for VSP, CASS and 3D-Printing is an effective and cost-advantageous solution for facilitating the use of these technologies in daily clinical and surgical practice

Scoliosis correction surgery is one of the longest and most complex procedures of all orthopedic surgery. The complication rate is therefore not negligible and is particularly high when the surgery is performed in patients with neuromuscular or connective tissue disease or complex genetic syndromes. In fact, these patients have various comorbidities and organ deficits (respiratory capacity, swallowing / nutrition, heart function, etc.), which can compromise the outcome of the surgery. In these cases, an accurate assessment and preparation for surgery is essential, also making use of external consultants. To make this phase simpler, more effective and homogeneous, a multidisciplinary path of peri-operative optimization is being developed in our Institute, which also includes the possibility of post-operative hospitalization for rehabilitation and recovery. The goal is to improve the basic functional status as much as possible, in order to ensure faster functional recovery and minimize the incidence of peri-operative complications, to be assessed by clinical audit. The path model and the preliminary results on the first patients managed according to the new modality are presented here. The multidisciplinary path involves the execution of the following assessments / interventions: • Pediatric visit with particular attention to the state of the upper airways and the evaluation of chronic or frequent inflammatory states • Cardiological Consultation with Echocardiogram. • Respiratory Function Tests, Blood Gas Analysis and Pneumological Consultation to evaluate indications for preoperative respiratory physiotherapy cycles, Non-Invasive Ventilation (NIV) cycles, Cough Machine. Possible Polysomnography. • Nutrition consultancy to assess the need for nutritional preparation in order to improve muscle trophism. • Consultation of the speech therapist in cases of dysphagia for liquids and / or solids. • Electroencephalogram and Neurological Consultation in epileptic patients. • Physiological consultation in patients already being treated with a cough machine and / or NIV. • Availability of postoperative hospitalization in the rehabilitation center (with skills in respiratory and neurological rehabilitation) for the most complex cases. When all the appropriate assessments have been completed, the anesthetist in charge at our Institute examines the clinical documentation and establishes whether the path can be considered complete and whether the patient is ready for surgery. At the end of the surgery, the patient is admitted to the Post-operative Intensive Care Unit of the Institute. If necessary, a new program of postoperative rehabilitation (respiratory, neuromotor, etc.) is programmed in a specialist reference center. To date, two patients have been referred to the preoperative optimization path: one with Ullrich Congenital Muscular Dystrophy, and one with 6q25 Microdeletion Syndrome. In the first case, the surgery was performed successfully, and the patient was discharged at home. In the second case, after completing the optimization process, the surgery was postponed due to the finding of urethral malformation with the impossibility of bladder catheterization, which made it necessary to proceed with urological surgery first. The preliminary case series presented here is still very limited and does not allow evaluations on the impact of the program on the clinical practice and the complication rate. However, these first experiences made it possible to demonstrate the feasibility of this complex multidisciplinary path in which a network of specialists takes part

Glenoid and humeral head bone defects have long been recognized as major determinants in recurrent shoulder instability as well as main predictors of outcomes after surgical stabilization. However, a universally accepted method to quantify them is not available yet. The purpose of the present study is to describe a new CT method to quantify bipolar bone defects volume on a virtually generated 3D model and to evaluate its reproducibility. A cross-sectional observational study has been conducted. Forty CT scans of both shoulders were randomly selected from a series of exams previously acquired on patients affected by anterior shoulder instability. Inclusion criterion was unilateral anterior shoulder instability with at least one episode of dislocation. Exclusion criteria were: bilateral shoulder instability; posterior or multidirectional instability, previous fractures and/or surgery to both shoulders; congenital or acquired inflammatory, neurological, or degenerative diseases. For all patients, CT exams of both shoulders were acquired at the same time following a standardized imaging protocol. The CT data sets were analysed on a standard desktop PC using the software 3D Slicer. Computer-based reconstruction of the Hill-Sachs and glenoid bone defect were performed through Boolean subtraction of the affected side from the contralateral one, resulting in a virtually generated bone fragment accurately fitting the defect. The volume of the bone fragments was then calculated. All measurements were conducted by two fellowship-trained orthopaedic shoulder surgeons. Each measurement was performed twice by one observer to assess intra-observer reliability. Inter and intra-observer reliability were calculated. Intraclass Correlation Coefficients (ICC) were calculated using a two-way random effect model and evaluation of absolute agreement. Confidence intervals (CI) were calculated at 95% confidence level for reliability coefficients. Reliability values range from 0 (no agreement) to 1 (maximum agreement). The study included 34 males and 6 females. Mean age (+ SD) of patients was 36.7 + 10.10 years (range: 25 – 73 years). A bipolar bone defect was observed in all cases. Reliability of humeral head bone fragment measurements showed excellent intra-observer agreement (ICC: 0.92, CI 95%: 0.85 – 0.96) and very good interobserver agreement (ICC: 0.89, CI 95%: 0.80 – 0.94). Similarly, glenoid bone loss measurement resulted in excellent intra-observer reliability (ICC: 0.92, CI 95%: 0.85 – 0.96) and very good inter-observer agreement (ICC: 0.84, CI 95%:0.72 – 0.91). In conclusion, matching affected and intact contralateral humeral head and glenoid by reconstruction on a computer-based virtual model allows identification of bipolar bone defects and enables quantitative determination of bone loss

Treatment of large bone defects represents a great challenge for orthopedic surgeons. The main causes are congenital abnormalities, traumas, osteomyelitis and bone resection due to cancer. Each surgical method for bone reconstruction leads its own burden of complications. The gold standard is considered the autologous bone graft, either of cancellous or cortical origin, but due to graft resorption and a limitation for large defect, allograft techniques have been identified. In the bone defect, these include the placement of cadaver bone or cement spacer to create the ‘Biological Chamber’ to restore bone regeneration, according to the Masquelet technique. We report eight patients, with large bone defect (for various etiologies and with an average size defect of 13.3 cm) in the lower and upper limbs, who underwent surgery at our Traumatology Department, between January 2019 and October 2020. Three patients were treated with both cortical and cancellous autologous bone grafts, while five received cortical or cement spacer allografts from donors. They underwent pre and postoperative radiographs and complete osseointegration was observed in all patients already undergoing monthly radiographic checks, with a restoration of length and range of motion. In our study, both the two stage-Masquelet and the cortical bone graft from a cadaver donor proved to be valid techniques in patients with very extensive defects to reconstruct the defect, restore the length, minimize implant left in situ and achieve complete functional recovery

Introduction and Objective. Several studies have described double and triple femoral neck lengthening osteotomies to correct coxa brevis deformity, however, no overview exists in literature. Our aim was to perform the first systematic review of the outcomes of double and triple femoral neck lengthening. Materials and Methods. After an extensive search in Pubmed, CINAHL and Embase libraries for published articles using the following search strategy: ‘(((proximal femoral deformity) OR hip dysplasia) OR coxa brevis) AND (((femoral neck lengthening) OR double proximal femoral osteotomy) OR triple proximal femoral osteotomy)’, we included studies reporting the results of double and triple femoral neck osteotomies. Clinical and radiological outcomes, and reported complications were extracted. The review process was conducted according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. Results. After evaluating 456 articles, we included 11 articles reporting 149 osteotomies in 143 patients (31% male, 64% female, 5% unspecified). Mean age of the patients was 20 years (range 7 years to 52 years). Indications were developmental hip dysplasia (51%), Perthes disease (27%), infection (6%), post-trauma (4%), congenital disorders (2%), slipped capital femoral epiphysis (1%), idiopathic (3%) and unknown (6%). The mean limb length discrepancy reduced by 12 mm (0 mm to 40 mm). In total, 65% of 101 positive Trendelenburg sign hips experienced improvement of abductor muscle strength. An 18% (9% to 36%) increase could be found in functional hip scores. Mean increase in articulo-trochanteric distance was 24 mm (10 mm to 34 mm). Five patients older than 30 years at the time of osteotomy and two younger patients with prior hip incongruency had disappointing results and required arthroplasty. In all, 12 complications occurred in 128 osteotomies, in which complications were reported. Conclusions. This first systematic review of double and triple femoral neck lengthening osteotomies shows that favorable outcomes and few complications can be expected in coxa brevis, however, excessive caution is required in older patients with incongruent hips

Introduction and Objective. Malunion after trauma can lead to coronal plane malalignment in the lower limb. The mechanical hypothesis suggests that this alters the load distribution in the knee joint and that that this increased load may predispose to compartmental arthritis. This is generally accepted in the orthopaedic community and serves as the basis guiding deformity correction after malunion as well as congenital or insidious onset malalignment. Much of the literature surrounding the contribution of lower limb alignment to arthritis comes from cohort studies of incident osteoarthritis. There has been a causation dilemma perpetuated in a number of studies - suggesting malalignment does not contribute to, but is instead a consequence of, compartmental arthritis. In this investigation the relationship between compartmental (medial or lateral) arthritis and coronal plane malalignment (varus or valgus) in patients with post traumatic unilateral limb deformity was examined. This represents a specific niche cohort of patients in which worsened compartmental knee arthritis after extra-articular injury must rationally be attributed to malalignment. Materials and Methods. The picture archiving system was searched to identify all 1160 long leg x ray films available at a major metropolitan trauma center over a 12-year period. Images were screened for inclusion and exclusion criteria, namely patients >10 years after traumatic long bone fracture without contralateral injury or arthroplasty to give 39 cases. Alignment was measured according to established surgical standards on long leg films by 3 independent reviewers, and arthritis scores Osteoarthritis Research Society International (OARSI) and Kellegren-Lawrence (KL) were recorded independently for each compartment of both knees. Malalignment was defined conservatively as mechanical axis deviation outside of 0–20 mm medial from centre of the knee, to give 27 patients. Comparison of mean compartmental arthritis score was performed for patients with varus and valgus malalignment, using Analysis of Variance and linear regression. Results. In knees with varus malalignment there was a greater mean arthritis score in the medial compartment compared to the contralateral knee, with OARSI scores 5.69 vs 3.86 (0.32, 3.35 95% CI; p<0.05) and KL 2.92 vs 1.92 (0.38, 1.62; p<0.005). There was a similar trend in valgus knees for the lateral compartment OARSI 2.98 vs 1.84 (CI −0.16, 2.42; p=0.1) and KL 1.76 vs 1.31 (CI −0.12, 1.01; p=0.17), but the evidence was not conclusive. OARSI arthritis score was significantly associated with absolute MAD (0.7/10mm MAD, p<0.0005) and Time (0.6/decade, p=0.01) in a linear regression model. Conclusions. Malalignment in the coronal plane is correlated with worsened arthritis scores in the medial compartment for varus deformity and may similarly result in worsened lateral compartment arthritis in valgus knees. These findings support the mechanical hypothesis that arthritis may be related to altered stress distribution at the knee, larger studies may provide further conclusive evidence

Neck modularity has been proposed to improve THA accuracy, thanks to the close restoration of anatomy, however it has been associated with issues like early breakages or corrosion. Our Hospital has been using neck modularity since the 90s, so we analyzed retrospectively implants performed between January 2000 and December 2014. The minimum follow up was 1Y. The cohort was composed of 1,033 THAs or 951 patients (82 bilateral), of which 643 females and 390 males. Average patient age was 67.7Y. THA indications were primary Osteoarthritis (80.9%), Fracture (9.0%), Congenital Dysplasia or Congenital Luxation (4.2%), Osteonecrosis (3.2%), other causes (2,7%). The stems used were all cementless, 381 anatomically shaped (36.9%), 635 straight (61.5%), 17 short MIS (1.6%). All necks used were made of Titanium alloy. 419 implants (40.5%) were manufactured by Wright Medical, while 614 (59.5%) were produced by Adler Ortho. A total of 37 revisions has been reported, mainly due to periprosthetic fractures (32.4%), luxation (24.3%), implant mobilization (18.9%) and implant breakage (16.2%). We have recorded 3 modular neck breakages. 4 patients required re-revisions, because of luxations (3) and neck breakage (1). The overall survival rate was 96.4%. We did not observe any component corrosion, probably thanks to the exclusive use of Titanium necks. We had a neck breakages rate of 0.29% and a luxation rate of 0.87%, lower than normally reported in the literature. In conclusion, our experience suggests as neck modularity could be a safe and effective way to reconstruct the proximal femur in THA patients

Summary Statement. Sprengel's deformity is a rare congenital anomaly, with scapula malposition. We present a unique subgroup of Sprengel's possessing a cleithrum, an ancestral remnant of shoulder-girdle development found in bony-fish. This challenges management providing valuable insight into scapular embryology and development. Introduction. Sprengel's deformity is a rare congenital anomaly of the shoulder girdle characterised by scapula malposition, associated with atrophy of periscapular muscles causing disfigurement and limited shoulder movement. Traditionally, it has been managed by omovertebral bar excision and muscle transplantation procedures guided by age and Cavendish grading. We present a unique, previously undescribed observation in humans: a case series of patients with Sprengel's deformity possessing a cleithrum, an ancestral remnant of shoulder-girdle development found in archaic bony fish. Methods. Nine patients presented with a so-called ‘Sprengel deformity’ to a tertiary referral shoulder clinic. All were assessed clinically and radiologically with scapular radiographs, and CT and/or MRI scans. The clinical (functional and cosmetic) and radiological features were classified according to Cavendish and Rigault systems, respectively and scapular ratio, assessed. Results. All patients were classed grade 4 on the Cavendish scale. Six were grade 2 and three were grade 3 on the Rigault scale. Mean scapular ratio was 1.04. Associated renal, craniocervical and cervicothoracic anomalies were present. The distinguishing surgical patho-anatomical feature was partial endomuscular ossification of medial scapular suspension muscles, analogous with the cleithrum of bony fish. The bone commonly articulated with the spinal column through pseudarthroses. Conclusions. This finding of the cleithrum not only challenges classic management of this rare patient group, as it cannot be managed by traditional muscle transplantation procedures, but offers insight into scapular embryology and development. The association of scapular developmental and urogenital anomalies suggests screening investigation of renal tracts in those with undescended scapula syndrome is relevant, and further genetic investigation might be pertinent to understand scapular development and pathology. We suggest, to emphasise the nature of the incomplete scapular descent and associated congenital anomalies, and clarify the imprecise common usage of the term ‘Sprengel’ this condition be called the ‘Congenital Undescended Scapula Syndrome’

Dupuytren Disease (DD), the most common connective tissue disease in man, presents as a benign fibromatosis of the hands and fingers resulting in the formation of nodules and cords and often leading to flexion contractures in association with keloids or Peyronie disease. Surgical resection of the fibrotic nodules, and more recently intra-lesional collagenase injection are the main therapeutic options for these patients. While the exact cause of DD is still unknown, linkage and Genome Wide Association Studies (GWAS) showed molecular heterogeneity with at least 10 different susceptibility loci 6 of which are close to genes encoding proteins in the Wnt-signaling pathway. We aim to identify the molecular basis of Dupuytren Disease (DD). Twenty patients with Dupuytren disease (including 3 patients with autosomal dominant inheritance, 1 with keloids and congenital torticollis, 2 with Peronie disease), were included in this study. Chromosome Microarray Analysis (CMA), Whole Exome Sequencing (WES) of gDNA and proteomic analysis by LC-Tandem Mass Spectrometry (LC-MSMS) studies were performed. Expression and Network analysis of LCMSMS results was performed using Principal Component Analysis (PCA), ANOVA and Ingenuity Pathway Analysis (IPA). No pathogenic copy number variants (CNVs) were found in CMA (n = 3). WES showed potentially pathogenic variants in POSTN, WNT11, MMP1 and COL3A1. PCA showed three differentially expressed clusters and network-IPA identified ACTB, BAX, COL3A1, FBN1, FN1, MMP1 as potential biomarkers. Comprehensive multi-OMIC analysis of gDNA and tissue proteins in patients with DD identified several connective tissue biomarkers potentially important in the pathogenesis of DD

The TL Hex (Orthofix) is a relatively new hexapod frame system that we have been using at our institution since August 2013 to treat acute fractures and correct tibial and femoral deformity. We report our initial experience of 48 completed treatments with this novel system in 46 patients and discuss illustrative cases. For acute fracture, 30 patients (24 male, 7 female) required framing with a mean age of 43 years (range 19–80). One patient underwent bilateral framing. The tibia was involved in all cases. In two cases, the femur also required framing. Open fractures occurred in 13 cases (43.3%). For elective limb reconstruction, 16 patients (14 male, two female) required framing with a mean age of 35 years (range 16–67). One patient underwent bilateral framing. The tibia was involved in all but one case, which affected the femur. Surgical indications included congenital deformity in four cases, malunion in eight cases, non-union in three cases and chronic infection in two cases. For acute fractures, the mean frame time was 164 days (range 63–560) and all but one fracture achieved union. Complications included pin, wire or strut failure requiring adjustment (three patients) and pin site infection (six patients). Three patients are being considered for residual deformity correction or treatment of non-union. In the elective limb reconstruction group, mean frame time was 220 days (range 140–462). All treatments successfully achieved deformity correction and bone union. Complications included two pin site infections. There was no evidence of recurrence of infection in the two osteomyelitis cases. In conclusion, the TL Hex frame system appears to be a safe and reliable tool for limb reconstruction. We have observed acceptable frame times, low complication rates and almost 100% bony union

A critical bone defect may be more frequently the consequence of a trauma, especially when a fracture occurs with wide exposure, but also of an infection, of a neoplasm or congenital deformities. This defect needs to be treated in order to restore the limb function. The treatments most commonly performed are represented by implantation of autologous or homologous bone, vascularized fibular grafting with autologous or use of external fixators; all these treatments are characterized by several limitations. Nowadays bone tissue engineering is looking forward new solutions: magnetic scaffolds have recently attracted significant attention. These scaffolds can improve bone formation by acting as a “fixed station” able to accumulate/release targeted growth factors and other soluble mediators in the defect area under the influence of an external magnetic field. Further, magnetic scaffolds are envisaged to improve implant fixation when compared to not-magnetic implants. We performed a series of experimental studies to evaluate bone regeneration in rabbit femoral condyle defect by implanting hydroxyapatite (HA), polycaprolactone (PCL) and collagen/HA hybrid scaffolds in combination with permanent magnets. Our results showed that ostetoconductive properties of the scaffolds are well preserved despite the presence of a magnetic component. Interestingly, we noticed that, using bio-resorbable collagen/HA magnetic scaffolds, under the effect of the static magnetic field generated by the permanent magnet, the reorganization of the magnetized collagen fibers produces a highly-peculiar bone pattern, with highly-interconnected trabeculae orthogonally oriented with respect to the magnetic field lines. Only partial healing of the defect was seen within the not magnetic control groups. Magnetic scaffolds developed open new perspectives on the possibility to exploiting magnetic forces to improve implant fixation, stimulate bone formation and control the bone morphology of regenerated bone by synergically combining static magnetic fields and magnetized biomaterials. Moreover magnetic forces can be exploited to guide targeted drug delivery of growth factors functionalized with nanoparticles