Aims. Preprint servers allow authors to publish full-text manuscripts or interim findings prior to undergoing peer review. Several preprint servers have extended their services to biological sciences, clinical research, and medicine. The purpose of this study was to systematically identify and analyze all articles related to Trauma & Orthopaedic (T&O) surgery published in five medical preprint servers, and to investigate the factors that influence the subsequent rate of publication in a peer-reviewed journal. Methods. All preprints covering T&O surgery were systematically searched in five medical preprint servers (medRxiv, OSF Preprints, Preprints.org, PeerJ, and Research Square) and subsequently identified after a minimum of 12 months by searching for the title, keywords, and corresponding author in Google Scholar, PubMed, Scopus, Embase, Cochrane, and the Web of Science. Subsequent publication of a work was defined as publication in a peer-reviewed indexed journal. The rate of publication and time to peer-reviewed publication were assessed. Differences in definitive publication rates of preprints according to geographical origin and level of evidence were analyzed. Results. The number of preprints increased from 2014 to 2020 (p < 0.001). A total of 38.6% of the identified preprints (n = 331) were published in a peer-reviewed indexed journal after a mean time of 8.7 months (SD 5.4 (1 to 27)). The highest proportion of missing subsequent publications was in the preprints originating from Africa, Asia/Middle East, and South America, or in those that covered clinical research with a lower level of evidence (p < 0.001). Conclusion. Preprints are being published in increasing numbers in T&O surgery. Depending on the geographical origin and level of evidence, almost two-thirds of preprints are not subsequently published in a peer-reviewed indexed journal after one year. This raises major concerns regarding the dissemination and persistence of potentially wrong scientific work that bypasses peer review, and the orthopaedic community should discuss appropriate preventive measures. Cite this article: Bone Jt Open 2022;3(7):582–588

Orthopaedics has been left behind in the worldwide drive towards diversity and inclusion. In the UK, only 7% of orthopaedic consultants are female. There is growing evidence that diversity increases innovation as well as patient outcomes. This paper has reviewed the literature to identify some of the common issues affecting female surgeons in orthopaedics, and ways in which we can address them: there is a wealth of evidence documenting the differences in the journey of men and women towards a consultant role. We also look at lessons learned from research in the business sector and the military. The ‘Hidden Curriculum’ is out of date and needs to enter the 21st century: microaggressions in the workplace must be challenged; we need to consider more flexible training options and support trainees who wish to become pregnant; mentors, both male and female, are imperative to provide support for trainees. The world has changed, and we need to consider how we can improve diversity to stay relevant and effective. Cite this article: Bone Jt Open 2021;2-10:893–899

Aims. The aim of this study was to surveil whether the standard operating procedure created for the NHS Golden Jubilee sufficiently managed COVID-19 risk to allow safe resumption of elective orthopaedic surgery. Methods. This was a prospective study of all elective orthopaedic patients within an elective unit running a green pathway at a COVID-19 light site. Rates of preoperative and 30-day postoperative COVID-19 symptoms or infection were examined for a period of 40 weeks. The unit resumed elective orthopaedic services on 29 June 2020 at a reduced capacity for a limited number of day-case procedures with strict patient selection criteria, increasing to full service on 29 August 2020 with no patient selection criteria. Results. A total of 2,373 cases were planned in the 40-week study period. Surgery was cancelled in 59 cases, six (10.2%) of which were due to having a positive preoperative COVID-19 screening test result. Of the remaining 2,314, 996 (43%) were male and 1,318 (57%) were female. The median age was 67 years (interquartile range 59.2 to 74.6). The median American Society of Anesthesiologists grade was 2. Hip and knee arthroplasties accounted for the majority of the operations (76%). Six patients tested positive for COVID-19 preoperatively (0.25%) and 39 patients were tested for COVID-19 within 30 days after discharge, with only five patients testing positive (0.22%). Conclusion. Through strict application of a COVID-19 green pathway, elective orthopaedic surgery could be safely delivered to a large number of patients with no selection criteria. Cite this article: Bone Jt Open 2021;2(11):951–957

Aims. Elective orthopaedic services have had to adapt to significant system-wide pressures since the emergence of COVID-19 in December 2019. Length of stay is often recognized as a key marker of quality of care in patients undergoing arthroplasty. Expeditious discharge is key in establishing early rehabilitation and in reducing infection risk, both procedure-related and from COVID-19. The primary aim was to determine the effects of the COVID-19 pandemic length of stay following hip and knee arthroplasty at a high-volume, elective orthopaedic centre. Methods. A retrospective cohort study was performed. Patients undergoing primary or revision hip or knee arthroplasty over a six-month period, from 1 July to 31 December 2020, were compared to the same period in 2019 before the COVID-19 pandemic. Demographic data, American Society of Anesthesiologists (ASA) grade, wait to surgery, COVID-19 status, and length of hospital stay were recorded. Results. A total of 1,311 patients underwent hip or knee arthroplasty in the six-month period following recommencement of elective services in 2020 compared to 1,527 patients the year before. Waiting time to surgery increased in post-COVID-19 group (137 days vs 78; p < 0.001). Length of stay also significantly increased (0.49 days; p < 0.001) despite no difference in age or ASA grade. There were no cases of postoperative COVID-19 infection. Conclusion. Time to surgery and length of hospital stay were significantly higher following recommencement of elective orthopaedic services in the latter part of 2020 in comparison to a similar patient cohort from the year before. Longer waiting times may have contributed to the clinical and radiological deterioration of arthritis and general musculoskeletal conditioning, which may in turn have affected immediate postoperative rehabilitation and mobilization, as well as increasing hospital stay. Cite this article: Bone Jt Open 2021;2(8):655–660

The coronavirus 2019 (COVID-19) global pandemic has had a significant impact on trauma and orthopaedic (T&O) departments worldwide. To manage the peak of the epidemic, orthopaedic staff were redeployed to frontline medical care; these roles included managing minor injury units, forming a “proning” team, and assisting in the intensive care unit (ICU). In addition, outpatient clinics were restructured to facilitate virtual consultations, elective procedures were cancelled, and inpatient hospital admissions minimized to reduce nosocomial COVID-19 infections. Urgent operations for fractures, infection and tumours went ahead but required strict planning to ensure patient safety. Orthopaedic training has also been significantly impacted during this period. This article discusses the impact of COVID-19 on T&O in the UK and highlights key lessons learned that may help to proactively prepare for the next global pandemic. Cite this article: Bone Joint Open 2020;1-7:420–423

Aims. COVID-19 represents one of the greatest global healthcare challenges in a generation. Orthopaedic departments within the UK have shifted care to manage trauma in ways that minimize exposure to COVID-19. As the incidence of COVID-19 decreases, we explore the impact and risk factors of COVID-19 on patient outcomes within our department. Methods. We retrospectively included all patients who underwent a trauma or urgent orthopaedic procedure from 23 March to 23 April 2020. Electronic records were reviewed for COVID-19 swab results and mortality, and patients were screened by telephone a minimum 14 days postoperatively for symptoms of COVID-19. Results. A total of 214 patients had orthopaedic surgical procedures, with 166 included for analysis. Patients undergoing procedures under general or spinal anaesthesia had a higher risk of contracting perioperative COVID-19 compared to regional/local anaesthesia (p = 0.0058 and p = 0.0007, respectively). In all, 15 patients (9%) had a perioperative diagnosis of COVID-19, 14 of whom had fragility fractures; six died within 30 days of their procedure (40%, 30-day mortality). For proximal femoral fractures, our 30-day mortality was 18.2%, compared to 7% in 2019. Conclusion. Based on our findings, patients undergoing procedures under regional or local anaesthesia have minimal risk of developing COVID-19 perioperatively. Those with multiple comorbidities and fragility fractures have a higher morbidity and mortality if they contract COVID-19 perioperatively; therefore, protective care pathways could go some way to mitigate the risk. Our 30-day mortality of proximal femoral fractures was 18.2% during the COVID-19 pandemic in comparison to the annual national average of 6.1% in 2018 and the University Hospital Coventry average of 7% for the same period in 2019, as reported in the National Hip Fracture Database. Patients undergoing procedures under general or spinal anaesthesia at the peak of the pandemic had a higher risk of contracting perioperative COVID-19 compared to regional block or local anaesthesia. We question whether young patients undergoing day-case procedures under regional block or local anaesthesia with minimal comorbidities require fourteen days self-isolation; instead, we advocate that compliance with personal protective equipment, a negative COVID-19 swab three days prior to surgery, and screening questionnaire may be sufficient. Cite this article: Bone Joint Open 2020;1-9:520–529

Cite this article: Bone Joint Res 2022;11(12):890–892.

High-quality randomised controlled trials (RCTs) evaluating surgical therapies are fundamental to the delivery of evidence-based orthopaedics. Orthopaedic clinical trials have unique challenges; however, when these challenges are overcome, evidence from trials can be definitive in its impact on surgical practice. In this review, we highlight several issues that pose potential challenges to orthopaedic investigators aiming to perform surgical randomised controlled trials. We begin with a discussion on trial design issues, including the ethics of sham surgery, the importance of sample size, the need for patient-important outcomes, and overcoming expertise bias. We then explore features surrounding the execution of surgical randomised trials, including ethics review boards, the importance of organisational frameworks, and obtaining adequate funding. Cite this article: Bone Joint Res 2014;3:161–8

The need to demonstrate probity and fair market competition has increased scrutiny of the relationships between orthopaedic surgeons and the industry that supplies them with their tools and devices. Investigations and judgements from the US Department of Justice and the introduction of the AdvaMed and Eucomed codes have defined new boundaries for interactions between these groups. This article summarises the current interplay between orthopaedic surgeons and industry, and provides recommendations for the future.

The peer review process for the evaluation of manuscripts for publication needs to be better understood by the orthopaedic community. Improving the degree of transparency surrounding the review process and educating orthopaedic surgeons on how to improve their manuscripts for submission will help improve both the review procedure and resultant feedback, with an increase in the quality of the subsequent publications. This article seeks to clarify the peer review process and suggest simple ways in which the quality of submissions can be improved to maximise publication success.

Cite this article: Bone Joint Res 2013;2:245–7.

Industries such as agriculture, construction and military have stringent rules about hearing protection due to the risk of noise induced hearing loss (NIHL). Due to the use of power tools, orthopaedic staff may be at risk of the same condition. The UK Health and Safety Executive (HSE) have clear standards as to what is deemed acceptable occupational noise levels on an A-weighted and C weighted scale. This review is aimed to assess evidence on noise exposure testing within Orthopaedic theatres to see if it exceeds the HSE regulations. A targeted search of online databases PUBMED and EMBASE was conducted using Preferred Reporting Items for Systematic Reviews and Meta-analyses (PRISMA) principles. This review was registered prospectively in PROSPERO. An eligibility criterion identifying clinical studies which assessed noise exposure for Orthopaedic staff in theatres were included. Noise exposure data was extracted from these studies and a comparison was made with A weighted and C weighted acceptable exposure levels as quoted in the HSE regulations. Fourteen papers were deemed eligible, which reviewed 133 Orthopaedic operations and 64 Orthopaedic instruments. In total, 61% (81 of 132) of Orthopaedic operations and 70% (45 of 64) of instruments exceeded the noise regulations on an A weighted scale. 22% (10 of 46) of operations exceeded the maximum C weighted peak acceptable noise level. Orthopaedic instruments and operations can exceed safe occupational noise levels. NHS Trusts have clear policies about noise exposure in the workplace but have yet to identify Orthopaedic theatres as a potential at risk area. Orthopaedic staff need education, monitoring and protection whereas Employers and Occupational Health should consider assessments to identify at risk staff in Orthopaedic theatres and offer preventative methods from NIHL

Abstract. INTRODUCTION. With increasing use of fluoroscopy in Orthopaedic theatres in recent years, the occupational radiation exposure to the surgeons and the theatre staff has increased significantly. Thyroid is one of the most radio-sensitive tissues in the body, but there is a clear lack of awareness among theatre staff of risks of radiation to thyroid. METHODS. We prospectively reviewed the use of thyroid shield by the theatre staff in the orthopaedic theatre for two weeks period. We also recorded the number of fluoroscopic images taken and total radiation dosage for each case. RESULTS. Our results showed that of 249 staff in the theatres of which, only 35 people (14.2%) wore thyroid shields during fluoroscopy, whereas 100% were complaint with body protection shield. We noticed that only 30% of the surgeons, 40% of the scrub nurses and 5% anaesthetist use this, while 95% of the radiographers uses thyroid protection in theatre. Average total radiation during upper-limb procedures was 1.25 cGy, during lower-limb procedures it was 43.48 cGy. Total radiations were very high particularly during lower-limb nailing procedures (80.98 cGy). CONCLUSION. Extensive use of fluoroscopy has a stochastic effect (accumulative effect) on thyroid gland particularly, if the dose in higher than 65 cGy. Despite its availability, only 14% people use the thyroid protection shield. We must emphasise the use of thyroid protection shield to the Orthopaedic surgeons, particularly during lower-limb procedures

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

Aims. In the UK, the NHS generates an estimated 25 megatonnes of carbon dioxide equivalents (4% to 5% of the nation’s total carbon emissions) and produces over 500,000 tonnes of waste annually. There is limited evidence demonstrating the principles of sustainability and its benefits within orthopaedic surgery. The primary aim of this study was to analyze the environmental impact of orthopaedic surgery and the environmentally sustainable initiatives undertaken to address this. The secondary aim of this study was to describe the barriers to making sustainable changes within orthopaedic surgery. Methods. A literature search was performed according to Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines through EMBASE, Medline, and PubMed libraries using two domains of terms: “orthopaedic surgery” and “environmental sustainability”. Results. A total of 13 studies were included in the final analysis. All papers studied the environmental impact of orthopaedic surgery in one of three areas: waste management, resource consumption, and carbon emissions. Waste segregation was a prevalent issue and described by nine studies, with up to 74.4% of hazardous waste being generated. Of this, six studies reported recycling waste and up to 43.9% of waste per procedure was recyclable. Large joint arthroplasties generated the highest amount of recyclable waste per procedure. Three studies investigated carbon emissions from intraoperative consumables, sterilization methods, and through the use of telemedicine. One study investigated water wastage and demonstrated that simple changes to practice can reduce water consumption by up to 63%. The two most common barriers to implementing environmentally sustainable changes identified across the studies was a lack of appropriate infrastructure and lack of education and training. Conclusion. Environmental sustainability in orthopaedic surgery is a growing area with a wide potential for meaningful change. Further research to cumulatively study the carbon footprint of orthopaedic surgery and the wider impact of environmentally sustainable changes is necessary. Cite this article: Bone Jt Open 2022;3(8):628–640

Aims. Orthopaedic surgery requires grafts with sufficient mechanical strength. For this purpose, decellularized tissue is an available option that lacks the complications of autologous tissue. However, it is not widely used in orthopaedic surgeries. This study investigated clinical trials of the use of decellularized tissue grafts in orthopaedic surgery. Methods. Using the ClinicalTrials.gov (CTG) and the International Clinical Trials Registry Platform (ICTRP) databases, we comprehensively surveyed clinical trials of decellularized tissue use in orthopaedic surgeries registered before 1 September 2022. We evaluated the clinical results, tissue processing methods, and commercial availability of the identified products using academic literature databases and manufacturers’ websites. Results. We initially identified 4,402 clinical trials, 27 of which were eligible for inclusion and analysis, including nine shoulder surgery trials, eight knee surgery trials, two ankle surgery trials, two hand surgery trials, and six peripheral nerve graft trials. Nine of the trials were completed. We identified only one product that will be commercially available for use in knee surgery with significant mechanical load resistance. Peracetic acid and gamma irradiation were frequently used for sterilization. Conclusion. Despite the demand for decellularized tissue, few decellularized tissue products are currently commercially available, particularly for the knee joint. To be viable in orthopaedic surgery, decellularized tissue must exhibit biocompatibility and mechanical strength, and these requirements are challenging for the clinical application of decellularized tissue. However, the variety of available decellularized products has recently increased. Therefore, decellularized grafts may become a promising option in orthopaedic surgery. Cite this article: Bone Joint Res 2023;12(3):179–188

Aims. The use of fluoroscopy in orthopaedic surgery creates risk of radiation exposure to surgeons. Appropriate personal protective equipment (PPE) can help mitigate this. The primary aim of this study was to assess if current radiation protection in orthopaedic trauma is safe. The secondary aims were to describe normative data of radiation exposure during common orthopaedic procedures, evaluate ways to improve any deficits in protection, and validate the use of electronic personal dosimeters (EPDs) in assessing radiation dose in orthopaedic surgery. Methods. Radiation exposure to surgeons during common orthopaedic trauma operations was prospectively assessed using EPDs and thermoluminescent dosimeters (TLDs). Normative data for each operation type were calculated and compared to recommended guidelines. Results. Current PPE appears to mitigate more than 90% of ionizing radiation in orthopaedic fluoroscopic procedures. There is a higher exposure to the inner thigh during seated procedures. EPDs provided results for individual procedures. Conclusion. PPE currently used by surgeons in orthopaedic trauma theatre adequately reduces radiation exposure to below recommended levels. Normative data per trauma case show specific anatomical areas of higher exposure, which may benefit from enhanced radiation protection. EPDs can be used to assess real-time radiation exposure in orthopaedic surgery. There may be a role in future medical wearables for orthopaedic surgeons. Cite this article: Bone Jt Open 2022;3(11):907–912

Aims. Evidence exists of a consistent decline in the value and time that medical schools place upon their undergraduate orthopaedic placements. This limited exposure to trauma and orthopaedics (T&O) during medical school will be the only experience in the speciality for the majority of doctors. This review aims to provide an overview of undergraduate orthopaedic training in the UK. Methods. This review summarizes the relevant literature from the last 20 years in the UK. Articles were selected from database searches using MEDLINE, EMBASE, ERIC, Cochrane, and Web of Science. A total of 16 papers met the inclusion criteria. Results. The length of exposure to T&O is declining; the mean total placement duration of two to three weeks is significantly less than the four- to six-week minimum advised by most relevant sources. The main teaching methods described in the literature included didactic lectures, bedside teaching, and small group case-based discussions. Students preferred interactive, blended learning teaching styles over didactic methods. This improvement in satisfaction was reflected in improvements in student assessment scores. However, studies failed to assess competencies in clinical skills and examinations, which is consistent with the opinions of UK foundation year doctors, approximately 40% of whom report a “poor” understanding of orthopaedics. Furthermore, the majority of UK doctors are not exposed to orthopaedics at the postgraduate level, which only serves to amplify the disparity between junior and generalist knowledge, and the standards expected by senior colleagues and professional bodies. Conclusion. There is a deficit in undergraduate orthopaedic training within the UK which has only worsened in the last 20 years, leaving medical students and foundation doctors with a potentially significant lack of orthopaedic knowledge. Cite this article: Bone Jt Open 2022;3(7):549–556

The use of artificial intelligence (AI) is rapidly growing across many domains, of which the medical field is no exception. AI is an umbrella term defining the practical application of algorithms to generate useful output, without the need of human cognition. Owing to the expanding volume of patient information collected, known as ‘big data’, AI is showing promise as a useful tool in healthcare research and across all aspects of patient care pathways. Practical applications in orthopaedic surgery include: diagnostics, such as fracture recognition and tumour detection; predictive models of clinical and patient-reported outcome measures, such as calculating mortality rates and length of hospital stay; and real-time rehabilitation monitoring and surgical training. However, clinicians should remain cognizant of AI’s limitations, as the development of robust reporting and validation frameworks is of paramount importance to prevent avoidable errors and biases. The aim of this review article is to provide a comprehensive understanding of AI and its subfields, as well as to delineate its existing clinical applications in trauma and orthopaedic surgery. Furthermore, this narrative review expands upon the limitations of AI and future direction. Cite this article: Bone Joint Res 2023;12(7):447–454

Aims. The COVID-19 pandemic has had a significant impact on the provision of orthopaedic care across the UK. During the pandemic orthopaedic specialist registrars were redeployed to “frontline” specialties occupying non-surgical roles. The impact of the COVID-19 pandemic on orthopaedic training in the UK is unknown. This paper sought to examine the role of orthopaedic trainees during the COVID-19 and the impact of COVID-19 pandemic on postgraduate orthopaedic education. Methods. A 42-point questionnaire was designed, validated, and disseminated via e-mail and an instant-messaging platform. Results. A total of 101 orthopaedic trainees, representing the four nations (Wales, England, Scotland, and Northern Ireland), completed the questionnaire. Overall, 23.1% (23/101) of trainees were redeployed to non-surgical roles. Of these, 73% (17/23) were redeployed to intensive treatment units (ITUs), 13% (3/23) to A/E, and 13%(3/23%) to general medicine. Of the trainees redeployed to ITU 100%, (17/17) received formal induction. Non-deployed or returning trainees had a significant reduction in sessions. In total, 42.9% (42/101) % of trainees were not timetabled into fracture clinic, 53% (53/101) of trainees had one allocated theatre list per week, and 63.8%(64/101) of trainees did not feel they obtained enough experience in the attached subspecialty and preferred repeating this. Overall, 93% (93/101) of respondents attended at least one weekly online webinar, with 79% (79/101) of trainees rating these as useful or very useful, while 95% (95/101) trainees attended online deanery teaching which was rated as more useful than online webinars (p = 0.005). Conclusion. Orthopaedic specialist trainees occupied an important role during the COVID-19 pandemic. COVID-19 has had a significant impact on orthopaedic training. It is imperative this is properly understood to ensure orthopaedic specialist trainees achieve competencies set out in the training curriculum. Cite this article: Bone Joint Open 2020;1-11:676–682

Medical Genetics is a transversal discipline with the potential to impact on every specialty and subspecialty in medicine and the allied health sciences. The completion of the human genome project resulted in technical advancements in genomics, genomic testing and our understanding of genetic disorders in general. These advancements have greatly enhanced our understanding of the role of genetics in Orthopaedic practice, with respect to both monogenic and complex disorders. Tygerberg Hospital is currently the only state hospital in South Africa to support genetic testing in the form of gene panels as part of routine care. This is complemented by more comprehensive research testing in the form of exome and genome sequencing as part of the Undiagnosed Disease Programme. We audit the genetic and genomic testing done on patients referred from the Orthopaedic clinic over a period of 3 years (2020–2022) and review diagnostic rates and interesting results. The largest group of patients referred (n=50) had a clinical diagnosis of osteogenesis imperfecta (OI). A 100% diagnostic yield was achieved for these patients with the identification of recurring variants (FKBP10, COL1A2). Further families (n=20) with much rarer conditions are presented with important implications on the orthopaedic and medical management, prognosis, and genetic counselling for the families. We highlight the impact of genomic testing in the Orthopaedic clinic. Management changes and precision orthopaedic intervention were only possible due to a genetic diagnosis. We motivate for increased access to testing, especially for younger patients presenting with complex orthopaedic phenotypes