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Aims: There is a lack of high-quality research investigating outcomes of Ponseti-treated idiopathic clubfeet and correlation with relapse. This study assessed clinical and quality of life (QoL) outcomes using a standardized core outcome set (COS), comparing children with and without relapse., Methods: A total of 11 international centres participated in this institutional review board-approved observational study. Data including demographics, information regarding presentation, treatment, and details of subsequent relapse and management were collected between 1 June 2022 and 30 June 2023 from consecutive clinic patients who had a minimum five-year follow-up. The clubfoot COS incorporating 31 parameters was used. A regression model assessed relationships between baseline variables and outcomes (clinical/QoL)., Results: Overall, 293 patients (432 feet) with a median age of 89 months (interquartile range 72 to 113) were included. The relapse rate was 37%, with repeated relapse in 14%. Treatment considered a standard part of the Ponseti journey (recasting, repeat tenotomy, and tibialis anterior tendon transfer) was performed in 35% of cases, with soft-tissue release and osteotomies in 5% and 2% of cases, respectively. Predictors of relapse included duration of follow-up, higher initial Pirani score, and poor Evertor muscle activity. Relapse was associated with poorer outcomes., Conclusion: This is the first multicentre study using a standardized COS following clubfoot treatment. It distinguishes patients with and without relapse in terms of clinical outcomes and QoL, with poorer outcomes in the relapse group. This tool allows comparison of treatment methods and outcomes, facilitates information sharing, and sets family expectations. Predictors of relapse encourage us to create appropriate treatment pathways to reduce relapse and improve outcome., Competing Interests: M. Bouchard reports consulting payments from Orthopediatrics and MD Orthopedics, and a patent pending on clubfoot brace bar design, unrelated to this study. M. Bouchard is also on the board of a trial on unicameral bone cysts, and is the CEO of Orthoflexion. D. M. Eastwood reports book royalties from Oxford University Press, and travel expenses and an honorarium from the University of Toronto Visiting Professorship, unrelated to this study. D. M. Eastwood is also on the data safety monitoring board for the FORCE and SCIENCE studies, and is the immediate past President of the British Orthopaedic Association. Y. Gelfer reports an EPOS grant for the administration of this study, and is an editorial board member on The Bone & Joint Journal., (© 2024 The British Editorial Society of Bone & Joint Surgery.)

Aims: The number of females within the speciality of trauma and orthopaedics (T&O) is increasing. The aim of this study was to identify: 1) current attitudes and behaviours of UK female T&O surgeons towards pregnancy; 2) any barriers faced towards pregnancy with a career in T&O surgery; and 3) areas for improvement., Methods: This is a cross-sectional study using an anonymous 13-section web-based survey distributed to female-identifying T&O trainees, speciality and associate specialist surgeons (SASs) and locally employed doctors (LEDs), fellows, and consultants in the UK. Demographic data was collected as well as closed and open questions with adaptive answering relating to attitudes towards childbearing and experiences of fertility and complications associated with pregnancy. A descriptive data analysis was carried out., Results: A total of 226 UK female T&O surgeons completed the survey. All regions of the UK were represented. Overall, 99/226 (44%) of respondents had at least one child, while 21/226 (9.3%) did not want children. Median age at first child was 33 years (interquartile range 32 to 36). Two-thirds (149/226; 66%) of respondents delayed childbearing due to a career in T&O and 140/226 (69%) of respondents had experienced bias from colleagues directed at female T&O surgeons having children during training. Nearly 24/121 (20%) of respondents required fertility assistance, 35/121 (28.9%) had experienced a miscarriage, and 53/121 (43.8%) had experienced obstetric complications., Conclusion: A large proportion of female T&O surgeons have and want children. T&O surgeons in the UK delay childbearing, have experienced bias and have high rates of infertility and obstetric complications. The information from this study will support female T&O surgeons with decision making and assist employers with workforce planning. Further steps are necessary in order to support female T&O surgeons having families., Competing Interests: D. Eastwood declares royalties or licenses from Oxford University Press; and support for attending meetings and/or travel from, and being president of, the British Orthopaedic Association, all of which is unrelated to this article. S. McNally discloses being president of the Medical Women’s Federation, and deputy director of the Centre for Perioperative Care, which is also unrelated., (© 2023 Kontoghiorghe et al.)

Purpose: Fractures of the femoral diaphysis are associated with a risk of morbidity in children. Various fixation methods have been developed, but with only limited evidence to support their use. This systematic review assesses the evidence regarding clinical outcomes of closed femoral diaphyseal fractures in children treated with plate fixation or flexible intramedullary nails., Methods: A PROSPERO-registered, PRISMA-compliant systematic review and meta-analysis were conducted. MEDLINE, Embase, and Web of Science (WoS) databases were searched from inception to February 2023. Inclusion criteria included clinical studies reporting adverse outcomes following surgical treatment of pediatric closed femoral diaphyseal fractures using plate fixation and flexible intramedullary nails. The ROBINS-I and RoB 2 tools evaluated the risk of bias., Results: Thirteen papers (2 prospective randomized controlled trials and 11 retrospective cohorts) reported 805 closed diaphyseal femoral fractures in 801 children (559 males, 242 females). There were 360 plate fixations and 445 flexible intramedullary nails. Two cases of osteomyelitis and one nonunion were reported. Meta-analysis showed that plate fixation had a lower risk of soft tissue infection (relative risk 0.26 (95% confidence interval 0.07-0.92)). There was no difference in the following outcomes: malunion (relative risk 0.68 (95% confidence interval 0.32-1.44)); unplanned reoperation (relative risk 0.59 (95% confidence interval 0.31-1.14)), and leg-length difference (relative risk 1.58 (95% confidence interval 0.66-3.77)). The risk of bias was high in all studies., Conclusions: An analysis of 805 fractures with minimal differences in meta-analyses is considered high quality even when the quality of the evidence is low. The findings are limited by important flaws in the methodology in the published literature. Well-designed multicentre prospective studies using standardized core outcomes are required to advise treatment recommendations., Level of Evidence: III., Competing Interests: The author(s) declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article., (© The Author(s) 2023.)

Aims: Global literature suggests that female surgical trainees have lower rates of independent operating (operative autonomy) than their male counterparts. The objective of this study was to identify any association between gender and lead/independent operating in speciality orthopaedic trainees within the UK national training programme., Methods: This was a retrospective case-control study using electronic surgical logbook data from 2009 to 2021 for 274 UK orthopaedic trainees. Total operative numbers and level of supervision were compared between male and female trainees, with correction for less than full-time training (LTFT), prior experience, and time out during training (OOP). The primary outcome was the percentage of cases undertaken as lead surgeon (supervised and unsupervised) by UK orthopaedic trainees by gender., Results: All participants gave permission for their data to be used. In total, 274 UK orthopaedic trainees submitted data (65% men (n = 177) and 33% women (n = 91)), with a total of 285,915 surgical procedures logged over 1,364 trainee-years. Males were lead surgeon (under supervision) on 3% more cases than females (61% (115,948/189,378) to 58% (50,285/86,375), respectively; p < 0.001), and independent operator (unsupervised) on 1% more cases. A similar trend of higher operative numbers in male trainees was seen for senior (ST6 to 8) trainees (+5% and +1%; p < 0.001), those with no time OOP (+6% and +8%; p < 0.001), and those with orthopaedic experience prior to orthopaedic specialty training (+7% and +3% for lead surgeon and independent operator, respectively; p < 0.001). The gender difference was less marked for those on LTFT training, those who took time OOP, and those with no prior orthopaedic experience., Conclusion: This study showed that males perform 3% more cases as the lead surgeon than females during UK orthopaedic training (p < 0.001). This may be due to differences in how cases are recorded, but must engender further research to ensure that all surgeons are treated equitably during their training., Competing Interests: The authors declare no potential conflicts of interest. D. Eastwood reports book royalties from Oxford University Press,and participation on the SCIENCE Study Data Monitoring Board, unrelated to this study. D. Eastwood is also President of the British Orthopaedic Association, and an editorial board member of The Bone & Joint Journal. S. Gill reports payment from DePuy Synthes for teaching a June 2022 course, and sponsorship for attendance of a December 2022 masterclass, neither of which are related to this study., (© 2023 The British Editorial Society of Bone & Joint Surgery.)

In unilateral Developmental Dysplasia of the Hip (DDH), avascular necrosis (AVN), femoral or pelvic osteotomy, and residual dysplasia causing subluxation of the proximal femur may influence Leg Length Discrepancy (LLD). This can lead to gait compensation, pelvic obliquity, and spinal curvature. The aim of this study is to determine the prevalence of LLD, establish which limb segment contributes to the discrepancy, describe how AVN influences LLD, and ascertain variables that may influence the need for LLD corrective procedures., Methodology: This study assessed long-leg radiographs at skeletal maturity. Radiographs were assessed for the articulo-trochanteric distance (ATD) and femoral and tibial length. AVN was classified according to Kalamchi-MacEwen., Results: 109 patients were included. The affected/DDH leg was longer in 72/109 (66%) patients. The length difference was mainly in the subtrochanteric segment of the femur. AVN negatively influenced leg length. Older (≥three years) patients with multiple procedures were more likely to have AVN. LLD interventions were performed in 30 (27.5%) patients. AVN grade or type of DDH surgery did not influence the odds of needing a procedure to correct LLD., Conclusions: Procedures to correct LLD were performed irrespective of previous DDH surgery or AVN grades. In most patients, the affected/DDH leg was longer, mainly in the subtrochanteric segment of the femur, largely influenced by femoral osteotomy in patients with multiple operative procedures for DDH. We recommend careful monitoring of LLD in DDH.

Females remain under-represented in surgery in the United Kingdom and around the globe. Gender representation on journal editorial boards is one of the key metrics of gender representation within academic surgery. The aim of this study was to quantify gender representation within the editorial leadership of journals affiliated with UK surgical specialties. A web-based search for each of the UK surgical specialty associations was conducted, followed by identification of the endorsed journals for each one. As of August 2022, data on the gender of the editor-in-chief and other journal leadership positions, including associate, section, and deputy editors, were collated. Gender classification was completed using first-name recognition, verified by a web search using the name and institution provided. Managing editors without clinical backgrounds were excluded. Ten journals were identified for the following surgical specialties: General Surgery, Trauma and Orthopaedics, Neurosurgery, Cardiothoracic, Urology, Paediatric Surgery, Ear Nose and Throat, Oral and Maxillofacial, Plastic and Reconstructive Surgery, and Vascular Surgery. In total, 242 editorial positions were identified: 207 were held by males (82.8%) and 35 by females (17.2%). There were no female editors-in-chief. The average female proportion of editorial leadership per journal was 18.8%. One journal had no female editorial leadership representation. Overall, the number of females in editorial leadership positions is comparable to the current proportion of UK female consultant surgeons (13.7%). Journals with an under-representation of females in senior editorial leadership positions compared with the parent specialty should consider initiatives that will encourage diversity, promote greater gender parity, and champion female representation., Competing Interests: Conflict of interest None., (Copyright © 2022 The British Association of Oral and Maxillofacial Surgeons. Published by Elsevier Ltd. All rights reserved.)

Purpose: To study the physical, emotional and social impact of clubfoot on the lives of affected children and their families., Methods: A purposive sample of children with treated idiopathic clubfoot and their parents was recruited from two geographical locations-the United Kingdom (UK) and India. Children were divided into age groups of 5-7 and 8-11 years. Questionnaires were administered separately to children and parents; the former comprised multiple-choice questions scored using an 'emoji' system, and the latter included open-ended questions divided into pre-defined themes of daily limitations, social life, general health, emotional barriers and family impact., Results: Thirty-four children and parents participated from UK; 96 children and parents participated from India. The majority of children (> 80%) reported no problems in daily activities, although 32.8% reported having pain. Difficulty finding appropriate footwear and limitation in sports were more common among UK children, whereas difficulty in squatting was more problematic for Indian children. Self and emotional perceptions regarding their appearance/condition were lower among older as compared to younger children in both countries. Parents' responses mirrored those of children; additionally they reported emotional and financial difficulties during initial treatment phase, and ongoing concerns about the future during the maintenance phase., Conclusion: Treated clubfoot continues to impact the lives of affected children and families. Perceptions of the condition and its impact vary between population groups; this needs to be appreciated when collecting and analysing outcomes., Competing Interests: Conflict of interestOn behalf of all authors, the corresponding author states that there is no conflict of interest., (© Indian Orthopaedics Association 2022, Springer Nature or its licensor holds exclusive rights to this article under a publishing agreement with the author(s) or other rightsholder(s); author self-archiving of the accepted manuscript version of this article is solely governed by the terms of such publishing agreement and applicable law.)

Background: Dynamic supination is a well-recognized cause of congenital clubfoot deformity relapse. However, there is no consensus on how to diagnose it and there are varied approaches in its management. This study aims to define dynamic supination and indications for treatment by presenting consensus from an international panel of experts using a modified Delphi panel approach., Methods: An international panel of 15 pediatric orthopaedic surgeons with clinical and research expertise in childhood foot disorders participated in a modified Delphi panel on dynamic supination in congenital clubfoot. Panelists voted on 51 statements using a 4-point Likert scale on dynamic supination, clinical indications for treatment, operative techniques, and postoperative casting and bracing. All panelists participated in 2 voting rounds with an interim meeting for discussion. Responses were classified as unanimous consensus (100%), consensus (80% or above), near-consensus (70% to 79%), and indeterminate (69% or less)., Results: Consensus was achieved for 34 of 51 statements. Panelists agreed dynamic supination is present when the forefoot is supinated during swing phase of gait with initial contact on the lateral border of the foot. There was also agreement that dynamic supination results from muscle imbalance between the tibialis anterior and the peroneus longus and brevis. There was no consensus on observation of hindfoot varus in dynamic supination, operative indications for posterior release of the ankle joint, or incisional approach for tibialis anterior tendon transfer. Reference to the calcaneopedal unit concept, planes of movement, and phases of gait were deemed important factors for consideration when evaluating dynamic supination., Conclusions: Consensus statements from the Delphi panel can guide diagnosis and treatment of dynamic supination in clubfoot deformity relapse, including clinical decision making regarding preoperative casting, surgical approach, and postoperative immobilization. Near-consensus and indeterminate statements may be used to direct future areas of investigation., Level of Evidence: Level V., Competing Interests: The authors declare no conflicts of interest., (Copyright © 2022 Wolters Kluwer Health, Inc. All rights reserved.)

Orthopaedic societies, with their diverse membership from across the world, serve a mission to endorse the progress and innovation in the field of orthopaedics and traumatology with a focus on improving patient care, as well as to encourage and develop education, teaching and research. Such organizations, whether small or large, have been successful in meeting the professional, educational and training needs of its members. The past and future presidents of these societies share insights addressing their professional experiences, lessons learnt and their vision for future leaders of the field. The objective of this article is to summarize the thoughts of presidents of orthopaedic societies from around the globe and to inspire younger and aspiring members of the global orthopaedic fraternity., (© 2022. The Author(s) under exclusive licence to SICOT aisbl.)

Background: Pavlik harness (PH) treatment is successful in treating over 90% of newborns with developmental dysplasia of the hip (DDH). There is a need for close supervision, frequent adjustments, size changes, and monitoring of complications. This paper aims to provide a safe criterion for remote follow-up of DDH patients treated in a PH to reduce the risk of COVID-19 (coronavirus disease 2019) exposure to patients, parents, and health practitioners., Methods: All infants with stable hips (Graf I, IIa/b/c/d, treated III/IV) with consenting parents after appropriate counseling were enrolled in a virtual clinic. Clinics were conducted using the NHS "Attend anywhere" virtual link service by an extended scope practitioner-specialist physiotherapist and a clinical nurse specialist. The virtual clinic group was compared with a matched cohort of patients from 2018/2019., Results: A total of 141 patients were referred to the neonatal hip clinic; 45 patients were eligible for harness treatment and 20 patients were selected for virtual clinics. In total, there were 35 virtual clinic appointments. Each of the patients had an average of 1.7 virtual appointments ranging from 1 to 3 (26.3% of total number of clinics). Age at presentation of the treated group was 7±4.2 weeks and control group 5.7±5.5 weeks (P=0.59). PH duration of the study group was 9±2.6 weeks and the control group, 7.8±2.5 weeks (P=0.12). There were no missed complications at the follow-up face-to-face appointment. Patients saved an average of 76 km total travel distance., Conclusions: This study demonstrates adequate evidence that children requiring routine follow-up appointments involving PH adjustment, skincare, and identification of clinical anomalies, can be treated and followed up safely using virtual clinics. Clinical triage of suitable patients for virtual clinic provision must always be made by experienced clinicians. Children presenting with Graf IIa, IIb, IIc, IId, as well as those with stable and improving Graf III at initial diagnoses, had successful treatment with virtual clinic follow-up appointments in this study., Level of Evidence: Level IV., Competing Interests: The authors declare no conflicts of interest., (Copyright © 2021 Wolters Kluwer Health, Inc. All rights reserved.)

Aim: Dual tension-band plates are used for temporary epiphysiodesis and longitudinal guided growth. The study aim was to assess rate of correction, to identify development of femoral and tibial intra-articular deformity during correction and to document resumption of growth after plate removal., Materials and Methods: A retrospective study of 34 consecutive patients treated with dual tension-band plates between 2012 and 2020 was performed. Twenty-four patients had surgery at the distal femur, six at the proximal tibia and four at both. Twenty-five female patients were treated at a mean age of 11.6 (±1.4) years and nine male patients at 13.5 (±1.5) years. Measurements were performed on standardised long-leg radiographs and included leg-length discrepancy (LLD), joint line congruency angle (JLCA), tibial roof angle, femoral floor angle and notch-intercondylar distance. Measurements were taken pre-operatively, at the end of discrepancy correction and at skeletal maturity., Results: The LLD reduced by a mean of 12.9 mm (95% CI 10.2-15.5) with the mean residual difference 8.4 mm (95% CI 5.4-11.4). The mean correction rate for the proximal tibia was 0.40 (SD 0.33) mm/month and 0.68 (SD 0.36) mm/month for the distal femur. A significant mean change in residual LLD [-2.5 mm (95% CI -4.2 to -0.7)] was observed between plate removal and skeletal maturity at the femoral level only. After length discrepancy correction, the tibial roof angle showed a significant difference of 8.4° (95% CI 13.4-3.4) between legs. In femoral epiphysiodesis patients, no important differences were observed., Conclusion: A significant reduction in LLD can be achieved using dual tension-band plating. A change in intra-articular morphology was observed only in the proximal tibia and not in the distal femur. In the authors' opinion, tension-band plating is a useful tool for leg-length equalisation but should be reserved for younger patients or when residual growth is difficult to predict. It is one of the management strategies for limb-length difference prior to skeletal maturity., How to Cite This Article: Tolk JJ, Merchant R, Calder PR, et al . Tension-band Plating for Leg-length Discrepancy Correction. Strategies Trauma Limb Reconstr 2022;17(1):19-25., Competing Interests: Source of support: Nil Conflict of interest: None, (Copyright © 2022; The Author(s).)

X-linked hypophosphataemia (XLH) is the most common cause of inherited phosphate wasting and is associated with severe complications such as rickets, lower limb deformities, pain, poor mineralization of the teeth and disproportionate short stature in children as well as hyperparathyroidism, osteomalacia, enthesopathies, osteoarthritis and pseudofractures in adults. The characteristics and severity of XLH vary between patients. Because of its rarity, the diagnosis and specific treatment of XLH are frequently delayed, which has a detrimental effect on patient outcomes. In this Evidence-Based Guideline, we recommend that the diagnosis of XLH is based on signs of rickets and/or osteomalacia in association with hypophosphataemia and renal phosphate wasting in the absence of vitamin D or calcium deficiency. Whenever possible, the diagnosis should be confirmed by molecular genetic analysis or measurement of levels of fibroblast growth factor 23 (FGF23) before treatment. Owing to the multisystemic nature of the disease, patients should be seen regularly by multidisciplinary teams organized by a metabolic bone disease expert. In this article, we summarize the current evidence and provide recommendations on features of the disease, including new treatment modalities, to improve knowledge and provide guidance for diagnosis and multidisciplinary care.

Background: Bilateral developmental dysplasia of the hip (DDH) is believed to have a worse outcome than unilateral DDH with the optimal treatment unclear. To define indications for treatment we report a retrospective series of 92 hips (46 patients) who underwent closed reduction (CR) and/or open reduction (OR)., Methods: A total of 58 hips in 29 patients underwent attempted CR using our standardized protocol. In the same 12 year time period, 54 hips in 27 patients underwent an OR. Outcome measures included resolution of acetabular dysplasia, need for further surgery, development of osteonecrosis (ON), and modified Severin Grade., Results: CR was successful in 57% of hips; in this group secondary surgery was required in 15% and ON was seen in 12%. In the OR group, 11% failed to stabilize and required further early surgery: ON rate was 15% overall, and secondary surgery was required in 5%. In Tonnis 2/3 hips younger than 2 years, Severin grading was comparable following CR and OR, with 92% and 90% graded as Severin 1, respectively. The rate of significant ON was higher after CR in Tonnis 2/3 hips (12%) than after OR (0%). Overall, Tonnis 4 hips did badly: 94% failed CR and following OR, further surgery for redislocation/residual dysplasia was required in 21%., Conclusions: CR can be successful in Tonnis 2/3 bilateral hips, with acceptable rates of secondary surgery, ON, and Severin grading, the latter equivalent to open reduction. Importantly, persisting with casting of a unilateral dislocation, to allow the contra-lateral hip to stabilize, does not have an adverse effect. CR is not advised in Tonnis 4 bilateral hips. Parents should be counseled that the outcome of surgery for bilateral hips is not as good as for unilateral DDH, particularly for Tonnis 4 hips which are more difficult to stabilize and more likely to require supplementary surgery even after open reduction., Level of Evidence: Level IV-Therapeutic Study.

Background: In all patients with mucopolysaccharidosis type I (MPS I), skeletal disease (dysostosis multiplex) is a prominent, debilitating, condition related complication that may impact strongly on activities of daily living. Unfortunately, it is not alleviated by treatment with hematopoietic cell transplantation (HCT) or enzyme replacement therapy (ERT). Although early kyphosis is one of the key features of dysostosis multiplex, there is no international consensus on the optimal management. Therefore, an international consensus procedure was organized with the aim to develop the first clinical practice guideline for the management of thoracolumbar kyphosis in MPS I patients., Methods: A literature review was conducted to identify all available information about kyphosis and related surgery in MPS I patients. Subsequently, a modified Delphi procedure was used to develop consensus statements. The expert panel included 10 spinal orthopedic surgeons, 6 pediatricians and 3 physiotherapists, all experienced in MPS I. The procedure consisted of 2 written rounds, a face-to-face meeting and a final written round. The first 2 rounds contained case histories, general questions and draft statements. During the face-to-face meeting consensus statements were developed. In the final round, the panel had the opportunity to anonymously express their opinion about the proposed statements., Results: Eighteen case series and case reports were retrieved from literature reporting on different surgical approaches and timing of thoracolumbar kyphosis surgery in MPS I. During the face-to-face meeting 16 statements were discussed and revised. Consensus was reached on all statements., Conclusion: This international consensus procedure resulted in the first clinical practice guideline for the management of thoracolumbar kyphosis in MPS I patients, focusing on the goals and timing of surgery, as well as the optimal surgical approach, the utility of bracing and required additional assessments (e.g. radiographs). Most importantly, it was concluded that the decision for surgery depends not only on the kyphotic angle, but also on additional factors such as the progression of the deformity and its flexibility, the presence of symptoms, growth potential and comorbidities. The eventual goal of treatment is the maintenance or improvement of quality of life. Further international collaborative research related to long-term outcome of kyphosis surgery in MPS I is essential as prognostic information is lacking.

Study Design: Retrospective case series OBJECTIVE.: The aim of this study was to review clinical and radiological outcomes of craniovertebral surgery in children with Morquio A syndrome (Mucopolysaccharidosis type IVA) and develop an evidence-based management algorithm., Summary of Background Data: Myelopathy secondary to craniovertebral pathology is a common cause of neurological disability in Morquio A syndrome. Previously unresolved surgical controversies include the value of surveillance, surgical indications, and operative technique., Methods: A retrospective case-based review of children with Morquio A syndrome and craniovertebral pathology seen in a tertiary referral pediatric center from 1992 to 2016 was performed. Patients treated nonoperatively and operatively were included. Medical records and imaging were reviewed to determine clinical and radiological findings at initial assessment, before cervical spine surgery, early postoperative period, and final follow-up. The clinical outcomes of interest were neurological status and mobility at follow-up, complications, and need for further surgery., Results: Twenty-seven patients were included. Surgical indications were radiological evidence of cervicomedullary compression alone (six cases) or with clinical evidence of myelopathy (12 cases). Eighteen patients (median age 6.2 years, range 3.5-15.9 years) underwent surgery, with median follow-up of 8.5 years. Occiput to upper cervical spine fusion with C1 decompression was performed in all cases with the addition of autologous calvarial graft in young patients (12 cases) and occipital-cervical plate fixation in older children (six cases). Neurological improvement occurred in 38% of cases but by one functional level only. Six of nine conservatively treated patients remained independent walkers., Conclusion: Surgery for craniovertebral pathology is required in the majority of children with Morquio A syndrome. Close clinical and radiological surveillance is essential for timely intervention. Occiput to cervical fusion is safe and feasible even in young patients and improves clinical and radiological parameters., Level of Evidence: 4.

Developmental dysplasia of the hip (DDH) is the most common skeletal developmental disease. However, its genetic architecture is poorly understood. We conduct the largest DDH genome-wide association study to date and replicate our findings in independent cohorts. We find the heritable component of DDH attributable to common genetic variants to be 55% and distributed equally across the autosomal and X-chromosomes. We identify replicating evidence for association between GDF5 promoter variation and DDH (rs143384, effect allele A, odds ratio 1.44, 95% confidence interval 1.34-1.56, P  = 3.55 × 10 -22 ). Gene-based analysis implicates GDF5 ( P  = 9.24 × 10 -12 ), UQCC1 ( P  = 1.86 × 10 - 10 ), MMP24 ( P  = 3.18 × 10 -9 ), RETSAT ( P  = 3.70 × 10 - 8 ) and PDRG1 ( P  = 1.06 × 10 - 7 ) in DDH susceptibility. We find shared genetic architecture between DDH and hip osteoarthritis, but no predictive power of osteoarthritis polygenic risk score on DDH status, underscoring the complex nature of the two traits. We report a scalable, time-efficient recruitment strategy and establish for the first time to our knowledge a robust DDH genetic association locus at GDF5 ., Competing Interests: The authors declare no competing interests.

Townes-Brocks syndrome (TBS) is characterized by a spectrum of malformations in the digits, ears, and kidneys. These anomalies overlap those seen in a growing number of ciliopathies, which are genetic syndromes linked to defects in the formation or function of the primary cilia. TBS is caused by mutations in the gene encoding the transcriptional repressor SALL1 and is associated with the presence of a truncated protein that localizes to the cytoplasm. Here, we provide evidence that SALL1 mutations might cause TBS by means beyond its transcriptional capacity. By using proximity proteomics, we show that truncated SALL1 interacts with factors related to cilia function, including the negative regulators of ciliogenesis CCP110 and CEP97. This most likely contributes to more frequent cilia formation in TBS-derived fibroblasts, as well as in a CRISPR/Cas9-generated model cell line and in TBS-modeled mouse embryonic fibroblasts, than in wild-type controls. Furthermore, TBS-like cells show changes in cilia length and disassembly rates in combination with aberrant SHH signaling transduction. These findings support the hypothesis that aberrations in primary cilia and SHH signaling are contributing factors in TBS phenotypes, representing a paradigm shift in understanding TBS etiology. These results open possibilities for the treatment of TBS., (Copyright © 2017 The Author(s). Published by Elsevier Inc. All rights reserved.)

Background: Congenital indifference to pain with anhidrosis (CIPA) is a rare hereditary neuropathy, which is associated with defective sensation to noxious stimuli and autonomic dysfunction. The objective of the study was to report on the orthopaedic manifestations of this condition and provide an evidence-based approach for management., Methods: Retrospective review of 14 consecutive patients with CIPA referred to a single tertiary centre. Mean age of diagnosis was 2.5 years (range 0.5 to 11 years)., Results: Patients presented with a range of orthopaedic problems including fractures, infections, growth disturbance, joint subluxation and Charcot joints affecting the limbs and spine. Conservative treatment with closed reduction and cast immobilisation was satisfactory for stress fractures of the lower extremity and Charcot joints. Posterior instrumented correction of scoliosis was associated with a high-risk of infection requiring reoperation for debridement and removal of posterior instrumentation. Growth disturbance leading to leg-length discrepancies were managed with shoe raises and corrective osteotomies. Aspiration and cultures may be used to differentiate between acute fracture and infection., Conclusions: Preventative treatment strategies with appropriately padded shoe-wear, gait and posture modification, parental education regarding environmental thermoregulation, and behavioural support are essential for improving prognosis and reducing long-term complications., (Copyright © 2016 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.)

Purpose: Proximal femoral excision is a salvage procedure for painful chronic hip dislocation in cerebral palsy (CP) patients. The primary objective of this article is to describe our experience of an amplified interposition myoplasty, with appropriate peri-operative pain and tone management strategies, in a cohort of non-ambulatory CP patients with painful chronic hip dislocation. Our secondary objective is to present the clinical outcomes of these patients., Methods: We describe our experience in 20 CP patients (25 procedures) at mean 54-month (range 27-169) follow-up with a surgical technique that includes an augmented interposition myoplasty and tone management. The indications for surgery were pain (21 hips), poor sitting tolerance (11) and difficulty with perineal care (8)., Results: The mean age was 22 years (range 10-40) with 11 patients Gross Motor Function Classification Scale (GMFCS) IV and 9 patients GMFCS V. Mean length of stay was 13 days (3-35). One procedure required revision at 12 months. Mean pain score improved from 7.8 (5-10) pre-operatively to 2.8 (1-5) post-operatively (p < 0.001). Sitting tolerance improved in all patients and in 75 % (15) perineal care was easier., Conclusions: Our interposition myoplasty technique with individualised pain/tone management has good outcomes in this cohort of patients with multiple co-morbidities.

Purpose: To describe knee alignment in children of different ages with severe mucopolysaccharidosis (MPS) I and II and the outcome of treatment with guided growth in a patient subgroup., Methods: This is a retrospective observational study of 58 knees in 29 children with severe MPS I and II. Long-leg standing radiographs were evaluated to determine mechanical axis deviation, mechanical lateral distal femoral angle and medial proximal tibial angle at different ages throughout childhood. The change in deformity in individual children over time is reported. 20 knees in 10 patients were treated with guided growth using eight-plates. Radiographic measurements were recorded at the time of plate insertion, at plate removal and at 1 year following removal., Results: At 8 years of age, all MPS I children and three-quarters of MPS II children had valgus knee alignment. There was deformity progression in two-thirds of MPS I knees and half of MPS II knees. Guided growth corrected the deformities. There was recurrence in most cases 1 year after plate removal., Conclusions: Knee deformity is common in children with severe MPS I and II. Guided growth can be considered where there is significant and/or or progressive deformity with the aim of halting progression and correcting existing deformity and thus minimizing the risk of gross deformity. Patients should be aware of the high rate of recurrence and the need for repeat surgery.

Background: The Ponseti method is the preferred treatment for idiopathic clubfoot. Although popularised by orthopaedic surgeons it has expanded to physiotherapists and other health practitioners. This study reviews the results of a physiotherapist-led Ponseti service for idiopathic and non-idiopathic clubfeet and compares these results with those reported by other groups., Method: A prospective cohort of clubfeet (2005-2012) with a minimum 2-year follow-up after correction was reviewed. Physiotherapists treated 91 children-41 patients (69 feet) had non-idiopathic deformities and 50 children (77 feet) were idiopathic. Objective outcomes were evaluated and compared to results from other groups managing similar patient cohorts., Results: The mean follow-up was 4.6 years (range 2-8.3 years) for both groups. The non-idiopathic group required a median of 7 casts to correct the clubfoot deformity with an 83 % tenotomy rate compared to a median of 5 casts for the idiopathic group with a 63 % tenotomy rate. Initial correction was achieved in 96 % of non-idiopathic feet and in 100 % of idiopathic feet. Recurrence requiring additional treatment was higher in the non-idiopathic group with 40 % of patients (36 % of feet) sustaining a relapse as opposed to 8 % (6 % feet) in the idiopathic group. Surgery was required in 26 % of relapsed non-idiopathic feet and 6 % of idiopathic., Conclusions: Although Ponseti treatment was not as successful in non-idiopathic feet as in idiopathic feet, deformity correction was achieved and maintained in the mid-term for the majority of feet. These results compare favourably to other specialist orthopaedic-based services for Ponseti management of non-idiopathic clubfeet., Level of Evidence: Prognostic Level III.

Background: Adolescent posteriorly displaced physeal injuries of the medial clavicle are uncommon. Up to 50% of conservatively treated patients remain symptomatic, and late surgery is hazardous. Stability is rarely achieved with closed or open reduction alone, and internal fixation is usually required. Previously described options for fixation achieve stability of the medial clavicle by securing it to the intact epiphysis. Because the epiphyseal fragment is small, fixation is achieved using sutures or wires. This relies on the size and structural integrity of the medial fragment, which in our experience can be variable. We hypothesized that a novel technique of operative stabilization of these injuries, which does not require fixation to the epiphyseal fragment and uses no metalwork, is safe and effective in treating these injuries., Materials and Methods: The operative technique involves suturing the medial clavicle to the anterior platysmal and periosteal layer using absorbable sutures passed through drill holes in the medial clavicle. Patients were assessed clinically an average of 9 months after surgery., Results: We treated 7 patients with this method. There were no intraoperative complications. All patients were pain-free and symptom-free and had a full range of movement at follow-up. All patients had returned to their preinjury level of sports., Conclusions: We recommend this technique for treating these uncommon injuries. It is simple, safe, and reproducible and it produces good results., (Copyright © 2012 Journal of Shoulder and Elbow Surgery Board of Trustees. Published by Mosby, Inc. All rights reserved.)

Thirty-two patients (61 limbs) with lysosomal storage disorders underwent surgery for 'carpal tunnel syndrome'. Twenty-two limbs underwent a simple decompression whereas 39 limbs underwent additional neurolysis and tenosynovectomy. Data were incomplete for six patients (12 limbs). The mean age at operation for the decompression group (11 patients) was 10.5 years and for the neurolysis group (15 patients), 6.9 years. Overall, using a neurophysiological rating system, 39% of limbs demonstrated sensory improvement and 47% motor improvement with no significant difference between the groups. Only in the neurolysis group was a decline in motor conduction (2/29 limbs) or sensory conduction (four limbs) noted. Using neurophysiological criteria, no added benefit from external neurolysis was identified.

We present a 10-year-old boy with a partial absence of or a hypoplastic right trapezius. At present, his only concern is shoulder asymmetry. No family history of significance and no history of trauma exist. His radiographs confirm changes in bony anatomy secondary to the altered balance of muscle forces on the skeleton. We have not identified any other clinical report of a partial or total absence of the trapezius although it has been defined in cadaveric cases. Similarly, some papers have described an absence of trapezius in combination with other abnormalities. In these cases, an abnormal blood supply has been described in contrast to the normal neurovascular anatomy identified in the cadaveric cases with partial absence. If this patient develops painful disability, the Eden-Lange procedure may be an appropriate treatment as for patients with spinal accessory nerve palsies.

A questionnaire was sent to all members of the British Society for Children's Orthopaedic Surgery and the Werkgroep Kinder Orthopaedie to identify points of agreement/disagreement on the management of the acute unstable slip of the upper femoral epiphysis and to compare these European results with those from a similar North American survey. Sixty-five per cent responded. Overall, both countries evaluated cases similarly and believed in their urgent management. Sixty-six per cent did not reposition the slip. Significant differences were observed in attitude towards single screw usage, prophylactic pinning and metalwork removal both between the two countries and in comparison with North America.

Thirty-one cadaveric lower limbs were dissected to identify the innervation of the tibialis posterior muscle to aid localization of the injection site for botulinum toxin for the treatment of an equinovarus deformity. A posterior midline surface-anatomy axis was defined from the level of the head of the fibula proximally to the intermalleolar axis distally. The nerve to tibialis posterior branched from the tibial trunk 13.4% down this axis and entered the muscle 22.1% along the same axis, within 1 cm of the midline. We also report the use of ultrasound for muscle localization at the level of the anatomically defined motor point.

Botulinum toxin acts at neuromuscular junctions close to muscle motor points and is used to help manage spastic upper-limb deformities. To develop a system allowing clinicians to identify optimal injection sites by an easily reproducible technique, forearm flexor muscles were dissected in 20 formalin-preserved human limbs. Motor points for flexor carpi ulnaris, flexor carpi radialis, flexor digitorum superficialis and pronator teres were (1) identified, (2) related to a reference grid based on lines (proximal, distal, lateral, medial and diagonals) drawn between forearm anatomical landmarks, and (3) defined in terms of their percentage distances along the established grid lines.

Tibial deformity in childhood often combines torsional and angular malalignment. A focal dome osteotomy was performed, proximally or distally, in 39 tibiae in 31 patients. In 33 limbs, the primary deformity was varus (with internal torsion). The osteotomy was held with K-wires and a plaster cast. The mean age at surgery was 10.25 years and the minimum follow-up 24 months. All osteotomies united and no compartment syndrome occurred. Postoperatively, two patients (5%) had temporary neurological deficits. Thirty of 31 patients had good clinical and radiological correction of alignment. Recurrent deformity was seen in one patient with hypophosphataemic rickets.