Aims

Acetabular fractures are associated with long-term morbidity. Our prospective cohort study sought to understand the recovery trajectory of this injury over five years.

Aims

Low-grade central osteosarcoma (LGCOS), a rare type of osteosarcoma, often has misleading radiological and pathological features that overlap with those of other bone tumours, thereby complicating diagnosis and treatment. We aimed to analyze the clinical, radiological, and pathological features of patients with LGCOS, with a focus on diagnosis, treatment, and outcomes.

Aims

The aim of this study was to determine the effectiveness of home-based prehabilitation on pre- and postoperative outcomes in participants awaiting total knee (TKA) and hip arthroplasty (THA).

Aims

Osteofibrous dysplasia (OFD) is a rare benign lesion predominantly affecting the tibia in children. Its potential link to adamantinoma has influenced management. This international case series reviews the presentation of OFD and management approaches to improve our understanding of OFD.

Aims

To identify the minimum set of outcomes that should be collected in clinical practice and reported in research related to the care of children with idiopathic congenital talipes equinovarus (CTEV).

Aims

The aim of this study is to define a core outcome set (COS) to allow consistency in outcome reporting amongst studies investigating the management of orthopaedic treatment in children with spinal dysraphism (SD).

Aims

Physician burnout and its consequences have been recognized as increasingly prevalent and important issues for both organizations and individuals involved in healthcare delivery. The purpose of this study was to describe and compare the patterns of self-reported wellness in orthopaedic surgeons and trainees from multiple nations with varying health systems.

Aims

Perthes’ disease (PD) often results in femoral head deformity and leg length discrepancy (LLD). Our objective was to analyze femoral morphology in PD patients at skeletal maturity to assess where the LLD originates, and evaluate the effect of contralateral epiphysiodesis for length equalization on proximal and subtrochanteric femoral lengths.

Aims

Displaced distal radius fractures were investigated at a level 1 major trauma centre during the COVID-19 2020 lockdown due to the implementation of temporary changes in practice. The primary aim was to establish if follow-up at one week in place of the 72-hour British Orthopaedic Association Standards for Trauma & Orthopaedics (BOAST) guidance was safe following manipulation under anaesthetic. A parallel adaptation during lockdown was the non-expectation of Bier’s block. The secondary aim was to compare clinical outcomes with respect to block type.

Aims

Bone metastasis ultimately occurs due to a complex multistep process, during which the interactions between cancer cells and bone microenvironment play important roles. Prior to colonization of the bone, cancer cells must succeed through a series of steps that will allow them to gain migratory and invasive properties; epithelial-to-mesenchymal transition (EMT) is known to be integral here. The aim of this study was to determine the effects of G protein subunit alpha Q (GNAQ) on the mechanisms underlying bone metastasis through EMT pathway.

Aims

This study aims to define a set of core outcomes (COS) to allow consistent reporting in order to compare results and assist in treatment decisions for idiopathic clubfoot.

Aims

Brachial plexus injury (BPI) is an often devastating injury that affects patients physically and emotionally. The vast majority of the published literature is based on surgeon-graded assessment of motor outcomes, but the patient experience after BPI is not well understood. Our aim was to better understand overall life satisfaction after BPI, with the goal of identifying areas that can be addressed in future delivery of care.

Aims

Modern total knee arthroplasty (TKA) prostheses are designed to restore near normal kinematics including high flexion. Kneeling is a high flexion, kinematically demanding activity after TKA. The debate about design choice has not yet been informed by six-degrees-of-freedom in vivo kinematics. This prospective randomized clinical trial compared kneeling kinematics in three TKA designs.

Aims

The aim of this study was to report the results of three forms of reconstruction for patients with a ditsl tibial bone tumour: an intercalary resection and reconstruction, an osteoarticular reconstruction, and arthrodesis of the ankle.

Aims

To analyze outcomes reported in studies of Ponseti correction of idiopathic clubfoot.

Introduction

In response to the COVID-19 pandemic, there was a rapidly implemented restructuring of UK healthcare services. The The Royal National Orthopaedic Hospital, Stanmore, became a central hub for the provision of trauma services for North Central/East London (NCEL) while providing a musculoskeletal tumour service for the south of England, the Midlands, and Wales and an urgent spinal service for London. This study reviews our paediatric practice over this period in order to share our experience and lessons learned. Our hospital admission pathways are described and the safety of surgical and interventional radiological procedures performed under general anaesthesia (GA) with regards to COVID-19 in a paediatric population are evaluated.

Aims

Enhanced perioperative protocols have significantly improved patient recovery following primary total knee arthroplasty (TKA). Little has been investigated the effectiveness of these protocols for revision TKA (RTKA). We report on a matched group of aseptic revision and primary TKA patients treated with an identical pain and rehabilitation programmes.

Aims

Receptor activator of nuclear factor-κB ligand (RANKL) is a key molecule that is expressed in bone stromal cells and is associated with metastasis and poor prognosis in many cancers. However, cancer cells that directly express RANKL have yet to be unveiled. The current study sought to evaluate how a single subunit of G protein, guanine nucleotide-binding protein G(q) subunit alpha (GNAQ), transforms cancer cells into RANKL-expressing cancer cells.

Aims

The aim of this study was to examine trends in the management of fractures of the distal radius in Ireland over a ten-year period, and to determine if there were any changes in response to the English Distal Radius Acute Fracture Fixation Trial (DRAFFT).

Aims

The aim of this study was to establish the results of isolated exchange of the tibial polyethylene insert in revision total knee arthroplasty (RTKA) in patients with well-fixed femoral or tibial components. We report on a series of RTKAs where only the polyethylene was replaced, and the patients were followed for a mean of 13.2 years (10.0 to 19.1).

Aims

The Ponseti method is the benchmark treatment for the correction of clubfoot. The primary rate of correction is very high, but outcome further down the treatment pathway is less predictable. Several methods of assessing severity at presentation have been reported. Classification later in the course of treatment is more challenging. This systematic review considers the outcome of the Ponseti method in terms of relapse and determines how clubfoot is assessed at presentation, correction, and relapse.

Aims

The number of rotator cuff repairs that are undertaken is increasing. Reverse shoulder arthroplasty (RSA) is the procedure of choice for patients with rotator cuff arthropathy. We sought to determine whether patients who underwent rotator cuff repair and subsequent RSA had different outcomes compared with a matched control group who underwent RSA without a previous rotator cuff repair.

Aims

Magnetically controlled growing rod (MCGR) systems use non-invasive spinal lengthening for the surgical treatment of early-onset scoliosis (EOS). The primary aim of this study was to evaluate the performance of these devices in the prevention of progression of the deformity. A secondary aim was to record the rate of complications.

Aims

Using 90% of final height as a benchmark, we sought to develop a quick, quantitative and reproducible method of estimating skeletal maturity based on topographical changes in the distal femoral physis.

Aims

The aim of this study was to report the clinical, functional and radiological outcomes of children and adolescents with tibial fractures treated using the Ilizarov method.

Aims

Few studies have evaluated the relationship between patients’ pre-operative expectations and the outcome of orthopaedic procedures. Our aim was to determine the effect of expectations on the outcome after primary anatomical total shoulder arthroplasty (TSA). We hypothesised that patients with greater expectations would have better outcomes.

The mucopolysaccharidoses (MPS) are a group of inherited lysosomal storage disorders with clinical manifestations relevant to the orthopaedic surgeon. Our aim was to review the recent advances in their management and the implications for surgical practice.

The current literature about MPSs is summarised, emphasising orthopaedic complications and their management.

Recent advances in the diagnosis and management of MPSs include the recognition of slowly progressive, late presenting subtypes, developments in life-prolonging systemic treatment and potentially new indications for surgical treatment. The outcomes of surgery in these patients are not yet validated and some procedures have a high rate of complications which differ from those in patients who do not have a MPS.

The diagnosis of a MPS should be considered in adolescents or young adults with a previously unrecognised dysplasia of the hip. Surgeons treating patients with a MPS should report their experience and studies should include the assessment of function and quality of life to guide treatment.

Cite this article: Bone Joint J 2017;99-B:1132–9

Objectives

Eukaryotic translation initiation factor 3 (eIF3) is a multi-subunit complex that plays a critical role in translation initiation. Expression levels of eIF3 subunits are elevated or decreased in various cancers, suggesting a role for eIF3 in tumorigenesis. Recent studies have shown that the expression of the eIF3b subunit is elevated in bladder and prostate cancer, and eIF3b silencing inhibited glioblastoma growth and induced cellular apoptosis. In this study, we investigated the role of eIF3b in the survival of osteosarcoma cells.

Aims

This prospective cohort study aims to determine if the size of the tendon gap following acute rupture of the Achilles tendon shows an association with the functional outcome following non-operative treatment.

Aims

Our aim was to assess the effectiveness of a protocol involving a standardised closed reduction for the treatment of children with developmental dysplasia of the hip (DDH) in maintaining reduction and to report the mid-term results.

Aims

We present an audit comparing our level I major trauma centre’s data for a cohort of patients with hip fractures in the National Hip Fracture Database (NHFD) with locally held data on these patients.

This article presents a unified clinical theory that links established facts about the physiology of bone and homeostasis, with those involved in the healing of fractures and the development of nonunion. The key to this theory is the concept that the tissue that forms in and around a fracture should be considered a specific functional entity. This ‘bone-healing unit’ produces a physiological response to its biological and mechanical environment, which leads to the normal healing of bone. This tissue responds to mechanical forces and functions according to Wolff’s law, Perren’s strain theory and Frost’s concept of the “mechanostat”. In response to the local mechanical environment, the bone-healing unit normally changes with time, producing different tissues that can tolerate various levels of strain. The normal result is the formation of bone that bridges the fracture – healing by callus. Nonunion occurs when the bone-healing unit fails either due to mechanical or biological problems or a combination of both. In clinical practice, the majority of nonunions are due to mechanical problems with instability, resulting in too much strain at the fracture site. In most nonunions, there is an intact bone-healing unit. We suggest that this maintains its biological potential to heal, but fails to function due to the mechanical conditions. The theory predicts the healing pattern of multifragmentary fractures and the observed morphological characteristics of different nonunions. It suggests that the majority of nonunions will heal if the correct mechanical environment is produced by surgery, without the need for biological adjuncts such as autologous bone graft.

Cite this article: Bone Joint J 2016;98-B:884–91.

Aims

Total wrist arthrodesis (TWA) produces a spectrum of outcomes. We investigated this by reviewing 77 consecutive TWA performed for inflammatory and post-traumatic arthropathies, wrist instability and as a salvage procedure.

This study compared the clinical outcomes following mini-open rotator cuff repair (MORCR) between early mobilisation and usual care, involving initial immobilisation. In total, 189 patients with radiologically-confirmed full-thickness rotator cuff tears underwent MORCR and were randomised to either early mobilisation (n = 97) or standard rehabilitation (n = 92) groups. Patients were assessed at six weeks and three, six, 12 and 24 months post-operatively. Six-week range of movement comparisons demonstrated significantly increased abduction (p = 0.002) and scapular plane elevation (p = 0.006) in the early mobilisation group, an effect which was not detectable at three months (p > 0.51) or afterwards. At 24 months post-operatively, patients who performed pain-free, early active mobilisation for activities of daily living showed no difference in clinical outcomes from patients immobilised for six weeks following MORCR. We suggest that the choice of rehabilitation regime following MORCR may be left to the discretion of the patient and the treating surgeon.

Cite this article: Bone Joint J 2015;97-B:1257–63.

In this study we evaluated whether the Instability Severity Index Score (ISIS) and the Western Ontario Shoulder Instability Index (WOSI) could detect those patients at risk of failure following arthroscopic Bankart repair. Between April 2008 and June 2010, the ISIS and WOSI were recorded pre-operatively in 110 patients (87 male, 79%) with a mean age of 25.1 years (16 to 61) who underwent this procedure for recurrent anterior glenohumeral instability.

A telephone interview was performed two-years post-operatively to determine whether patients had experienced a recurrent dislocation and whether they had returned to pre-injury activity levels. In all, six (5%) patients had an ISIS > 6 points (0 to 9). Of 100 (91%) patients available two years post-operatively, six (6%) had a recurrent dislocation, and 28 (28%) did not return to pre-injury activity. No patient who dislocated had an ISIS > 6 (p = 1.0). There was no difference in the mean pre-operative WOSI in those who had a re-dislocation and those who did not (p = 0.99). The pre-operative WOSI was significantly lower (p = 0.02) in those who did not return to pre-injury activity, whereas the ISIS was not associated with return to pre-injury activity (p = 0.13).

In conclusion, neither the pre-operative ISIS nor WOSI predicted recurrent dislocation within two years of arthroscopic Bankart repair. Patients with a lower pre-operative WOSI were less likely to return to pre-injury activity.

Cite this article: Bone Joint J 2014; 96-B:1688–92.

Cartilage defects of the hip cause significant pain and may lead to arthritic changes that necessitate hip replacement. We propose the use of fresh osteochondral allografts as an option for the treatment of such defects in young patients. Here we present the results of fresh osteochondral allografts for cartilage defects in 17 patients in a prospective study. The underlying diagnoses for the cartilage defects were osteochondritis dissecans in eight and avascular necrosis in six. Two had Legg-Calve-Perthes and one a femoral head fracture. Pre-operatively, an MRI was used to determine the size of the cartilage defect and the femoral head diameter. All patients underwent surgical hip dislocation with a trochanteric slide osteotomy for placement of the allograft. The mean age at surgery was 25.9 years (17 to 44) and mean follow-up was 41.6 months (3 to 74). The mean Harris hip score was significantly better after surgery (p < 0.01) and 13 patients had fair to good outcomes. One patient required a repeat allograft, one patient underwent hip replacement and two patients are awaiting hip replacement. Fresh osteochondral allograft is a reasonable treatment option for hip cartilage defects in young patients.

Cite this article: Bone Joint J 2014;96-B(11 Supple A):11–16.

Previous studies have identified clinical and demographic risk factors for recurrence in the treatment of idiopathic clubfoot (congenital talipes equinovarus). Evertor muscle activity is not usually considered amongst them. This study aimed to evaluate whether recurrence could be predicted by demographic, clinical and gait parameters. From a series of 103 children with clubfeet, 67 had completed a follow-up of two years: 41 male and 26 female, 38 with idiopathic and 29 with non-idiopathic deformities. The mean age was 3.2 years (2.1 to 6.3). Primary correction was obtained in all 38 children (100%) with an idiopathic deformity, and in 26 of 29 patients (90%) with a non-idiopathic deformity. Overall, 60 children (90%) complied with the abduction brace regime. At a mean follow-up of 31.4 months (24 to 62), recurrence was noted in six children (15.8%) in the idiopathic and 14 children (48.3%) in the non-idiopathic group. Significant correlation was found between poor evertor activity and recurrence in both groups. No statistically significant relationship was found between the rate of recurrence and the severity of the initial deformity, the age at the time of treatment, the number of casts required or the compliance with the brace.

After correction of idiopathic and non-idiopathic clubfoot using the Ponseti method, only poor evertor muscle activity was statistically associated with recurrence. The identification of risk factors for recurrent deformity allows clinicians to anticipate problems and advocate early additional treatment to improve muscle balance around the ankle.

Cite this article: Bone Joint J 2014;96-B:1264–8.

In this study, we describe a morphological classification for greater tuberosity fractures of the proximal humerus. We divided these fractures into three types: avulsion, split and depression. We retrospectively reviewed all shoulder radiographs showing isolated greater tuberosity fractures in a Level I trauma centre between July 2007 and July 2012. We identified 199 cases where records and radiographs were reviewed and included 79 men and 120 women with a mean age of 58 years (23 to 96). The morphological classification was applied to the first 139 cases by three reviewers on two occasions using the Kappa statistic and compared with the AO and Neer classifications. The inter- and intra-observer reliability of the morphological classification was 0.73 to 0.77 and 0.69 to 0.86, respectively. This was superior to the Neer (0.31 to 0.35/0.54 to 0.63) and AO (0.30 to 0.32/0.59 to 0.65) classifications. The distribution of avulsion, split and depression type fractures was 39%, 41%, and 20%, respectively. This classification of greater tuberosity fractures is more reliable than the Neer or AO classifications. These distinct fracture morphologies are likely to have implications in terms of pathophysiology and surgical technique.

Cite this article: Bone Joint J 2014;96-B:646–51.

Some surgeons are reluctant to perform a reverse total shoulder arthroplasty (RTSA) on both shoulders because of concerns regarding difficulty with activities of daily living post-operatively as a result of limited rotation of the shoulders. Nevertheless, we hypothesised that outcomes and patient satisfaction following bilateral RTSA would be comparable to those following unilateral RTSA. A single-surgeon RTSA registry was reviewed for patients who underwent bilateral staged RTSA with a minimum follow-up of two years. A unilateral RTSA matched control was selected for each shoulder in those patients undergoing bilateral procedures. The Constant–Murley score (CMS), American Shoulder and Elbow Surgeons (ASES) score, Subjective Shoulder Values (SSV), visual analogue scale (VAS) for pain, range of movement and strength were measured pre- and post-operatively. The mean CMS, ASES, SSV, VAS scores, strength and active forward elevation were significantly improved (all p < 0.01) following each operation in those undergoing bilateral procedures. The mean active external rotation (p = 0.63 and p = 0.19) and internal rotation (p = 0.77 and p = 0.24) were not significantly improved. The improvement in the mean ASES score after the first RTSA was greater than the improvement in its control group (p = 0.0039). The improvement in the mean CMS, ASES scores and active forward elevation was significantly less after the second RTSA than in its control group (p = 0.0244, p = 0.0183, and p = 0.0280, respectively). Pain relief and function significantly improved after each RTSA in those undergoing a bilateral procedure.

Bilateral RTSA is thus a reasonable form of treatment for patients with severe bilateral rotator cuff deficiency, although inferior results may be seen after the second procedure compared with the first.

Cite this article: Bone Joint J 2013;95-B:1232–8.

Fracture repair occurs by two broad mechanisms: direct healing, and indirect healing with callus formation. The effects of bisphosphonates on fracture repair have been assessed only in models of indirect fracture healing.

A rodent model of rigid compression plate fixation of a standardised tibial osteotomy was used. Ten skeletally mature Sprague–Dawley rats received daily subcutaneous injections of 1 µg/kg ibandronate (IBAN) and ten control rats received saline (control). Three weeks later a tibial osteotomy was rigidly fixed with compression plating. Six weeks later the animals were killed. Fracture repair was assessed with mechanical testing, radiographs and histology.

The mean stress at failure in a four-point bending test was significantly lower in the IBAN group compared with controls (8.69 Nmm^-2 (sd 7.63) vs 24.65 Nmm^-2 (sd 6.15); p = 0.017). On contact radiographs of the extricated tibiae the mean bone density assessment at the osteotomy site was lower in the IBAN group than in controls (3.7 mmAl (sd 0.75) vs 4.6 mmAl (sd 0.57); p = 0.01). In addition, histological analysis revealed progression to fracture union in the controls but impaired fracture healing in the IBAN group, with predominantly cartilage-like and undifferentiated mesenchymal tissue (p = 0.007).

Bisphosphonate treatment in a therapeutic dose, as used for risk reduction in fragility fractures, had an inhibitory effect on direct fracture healing. We propose that bisphosphonate therapy not be commenced until after the fracture has united if the fracture has been rigidly fixed and is undergoing direct osteonal healing.

Cite this article: Bone Joint J 2013;95-B:1263–8.

Early total hip replacement (THR) for acetabular fractures offers accelerated rehabilitation, but a high risk of heterotopic ossification (HO) has been reported. The purpose of this study was to evaluate the incidence of HO, its associated risk factors and functional impact. A total of 40 patients with acetabular fractures treated with a THR weres retrospectively reviewed. The incidence and severity of HO were evaluated using the modified Brooker classification, and the functional outcome assessed. The overall incidence of HO was 38% (n = 15), with nine severe grade III cases. Patients who underwent surgery early after injury had a fourfold increased chance of developing HO. The mean blood loss and operating time were more than twice that of those whose surgery was delayed (p = 0.002 and p < 0.001, respectively). In those undergoing early THR, the incidence of grade III HO was eight times higher than in those in whom THR was delayed (p = 0.01). Only three of the seven patients with severe HO showed good or excellent Harris hip scores compared with eight of nine with class 0, I or II HO (p = 0.049). Associated musculoskeletal injuries, high-energy trauma and head injuries were associated with the development of grade III HO.

The incidence of HO was significantly higher in patients with a displaced acetabular fracture undergoing THR early compared with those undergoing THR later and this had an adverse effect on the functional outcome.

Cite this article: Bone Joint J 2013;95-B:95–100.

We assessed the effect of social deprivation upon the Oxford knee score (OKS), the Short-Form 12 (SF-12) and patient satisfaction after total knee replacement (TKR). An analysis of 966 patients undergoing primary TKR for symptomatic osteoarthritis (OA) was performed. Social deprivation was assessed using the Scottish Index of Multiple Deprivation. Those patients that were most deprived underwent surgery at an earlier age (p = 0.018), were more likely to be female (p = 0.046), to endure more comorbidities (p = 0.04) and to suffer worse pain and function according to the OKS (p < 0.001). In addition, deprivation was also associated with poor mental health (p = 0.002), which was assessed using the mental component (MCS) of the SF-12 score. Multivariable analysis was used to identify independent predictors of outcome at one year. Pre-operative OKS, SF-12 MCS, back pain, and four or more comorbidities were independent predictors of improvement in the OKS (all p < 0.001). Pre-operative OKS and improvement in the OKS were independent predictors of dissatisfaction (p = 0.003 and p < 0.001, respectively). Although improvement in the OKS and dissatisfaction after TKR were not significantly associated with social deprivation per se, factors more prevalent within the most deprived groups significantly diminished their improvement in OKS and increased their rate of dissatisfaction following TKR.

Cite this article: Bone Joint J 2013;95-B:52–8.

Objectives

Small animal models of fracture repair primarily investigate indirect fracture healing via external callus formation. We present the first described rat model of direct fracture healing.

We retrospectively reviewed 101 consecutive patients with 114 femoral tumours treated by massive bone allograft at our institution between 1986 and 2005. There were 49 females and 52 males with a mean age of 20 years (4 to 74). At a median follow-up of 9.3 years (2 to 19.8), 36 reconstructions (31.5%) had failed. The allograft itself failed in 27 reconstructions (24%).

Mechanical complications such as delayed union, fracture and failure of fixation were studied. The most adverse factor on the outcome was the use of intramedullary nails, followed by post-operative chemotherapy, resection length > 17 cm and age > 18 years at the time of intervention. The simultaneous use of a vascularised fibular graft to protect the allograft from mechanical complications improved the outcome, but the use of intramedullary cementing was not as successful.

In order to improve the strength of the reconstruction and to advance the biology of host–graft integration, we suggest avoiding the use of intramedullary nails and titanium plates, but instead using stainless steel plates, as these gave better results. The use of a supplementary vascularised fibular graft should be strongly considered in adult patients with resection > 17 cm and in those who require post-operative chemotherapy.

Guiding growth by harnessing the ability of growing bone to undergo plastic deformation is one of the oldest orthopaedic principles. Correction of deformity remains a major part of the workload for paediatric orthopaedic surgeons and recently, along with developments in limb reconstruction and computer-directed frame correction, there has been renewed interest in surgical methods of physeal manipulation or ‘guided growth’. Manipulating natural bone growth to correct a deformity is appealing, as it allows gradual correction by non- or minimally invasive methods.

This paper reviews the techniques employed for guided growth in current orthopaedic practice, including the basic science and recent advances underlying mechanical physeal manipulation of both healthy and pathological physes.

This is a retrospective study of six children with ununited scaphoid fractures treated conservatively. Their mean age was 12.8 years (9.7 to 16.3). Five had no early treatment. Radiological signs of nonunion were found at a mean of 4.6 months (3 to 7) after injury. Treatment consisted of cast immobilisation until clinical and radiological union. The mean clinical and radiological follow-up was for 67 months (17 to 90). We assessed the symptoms, the range of movement of the wrist and the grip strength to calculate the Modified Mayo Wrist score.

The fracture united in all patients after a mean period of immobilisation of 5.3 months (3 to 7). Five patients were pain free; one had mild pain. All returned to regular activities, and had a range of movement and grip strength within 25% of normal, resulting in an excellent Modified Mayo Wrist score.

Prolonged treatment with cast immobilisation resulted in union of the fracture and an excellent Modified Wrist Score in all patients.

The role of heritable thrombophilic risk factors in the pathogenesis of the Perthes’ disease is controversial. The clinical and radiological findings of Perthes’ disease may be indistinguishable from those of Gaucher’s disease, and the most common Jewish N370S Gaucher mutation is threefold greater in patients with Perthes’ disease. Familial osteonecrosis of the femoral head is associated with variant mutations of collagen type II (COL2A1 mutations). We therefore studied the potential role of genetic thrombophilia and the Gaucher and COL2A1 mutations in children with Perthes’ disease.

Genomic DNA of 119 children with radiologically-confirmed Perthes’ disease diagnosed between 1986 and 2005 was analysed for the thrombophilic polymorphisms Factor V Leiden, 677T-MTHFR and FIIG20210A. The results were compared with those of a group of 276 children without Perthes’ disease. DNA was also analysed for the Gaucher mutations N370S, G insertion (84GG), L444P, Intron 2 (IVS2+1G> A) and R496H. Enzymic assays confirmed the Gaucher disease status. Collagen (COL2A1) mutations of the 12q13 gene were also analysed. The prevalence of thrombophilic markers was similar among the 119 patients with Perthes’ disease and the 276 control subjects. The prevalence of the Gaucher mutation was consistent with Israeli population carriership data and did not confirm an earlier-claimed association with Perthes’ disease. All 199 patients were negative for the studied COL2A1 mutations.

We found no genetic association between Perthes’ disease and either Gaucher’s disease or COL2A1 mutations or increased genetic thrombophilia among our patients compared with the control group. A systematic review of case-control studies suggested that there was a positive association between Perthes’ disease and Factor V Leiden. The impact of this association upon the disease, although not consistent across the studies, remains unclear.