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The Bone & Joint Journal
Vol. 106-B, Issue 3 | Pages 277 - 285
1 Mar 2024
Pinto D Hussain S Leo DG Bridgens A Eastwood D Gelfer Y

Aims

Children with spinal dysraphism can develop various musculoskeletal deformities, necessitating a range of orthopaedic interventions, causing significant morbidity, and making considerable demands on resources. This systematic review aimed to identify what outcome measures have been reported in the literature for children with spinal dysraphism who undergo orthopaedic interventions involving the lower limbs.

Methods

A PROSPERO-registered systematic literature review was performed following PRISMA guidelines. All relevant studies published until January 2023 were identified. Individual outcomes and outcome measurement tools were extracted verbatim. The measurement tools were assessed for reliability and validity, and all outcomes were grouped according to the Outcome Measures Recommended for use in Randomized Clinical Trials (OMERACT) filters.


The Bone & Joint Journal
Vol. 106-B, Issue 7 | Pages 735 - 743
1 Jul 2024
Gelfer Y Cavanagh SE Bridgens A Ashby E Bouchard M Leo DG Eastwood DM

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).


Bone & Joint Open
Vol. 4, Issue 3 | Pages 120 - 128
1 Mar 2023
Franco H Saxby N Corlew DS Perry DC Pigeolet M

Aims

Within healthcare, several measures are used to quantify and compare the severity of health conditions. Two common measures are disability weight (DW), a context-independent value representing severity of a health state, and utility weight (UW), a context-dependent measure of health-related quality of life. Neither of these measures have previously been determined for developmental dysplasia of the hip (DDH). The aim of this study is to determine the DW and country-specific UWs for DDH.

Methods

A survey was created using three different methods to estimate the DW: a preference ranking exercise, time trade-off exercise, and visual analogue scale (VAS). Participants were fully licensed orthopaedic surgeons who were contacted through national and international orthopaedic organizations. A global DW was calculated using a random effects model through an inverse-variance approach. A UW was calculated for each country as one minus the country-specific DW composed of the time trade-off exercise and VAS.


The Bone & Joint Journal
Vol. 102-B, Issue 10 | Pages 1405 - 1411
3 Oct 2020
Martynov I Klink T Slowik V Stich R Zimmermann P Engel C Lacher M Boehm R

Aims. This exploratory randomized controlled trial (RCT) aimed to determine the splint-related outcomes when using the novel biodegradable wood-composite splint (Woodcast) compared to standard synthetic fibreglass (Dynacast) for the immobilization of undisplaced upper limb fractures in children. Methods. An exploratory RCT was performed at a tertiary paediatric referral hospital between 1 June 2018 and 30 September 2019. The intention-to-treat population consisted of 170 patients (mean age 8.42 years (SD 3.42); Woodcast (WCG), n = 84, 57 male (67.9%); Dynacast (DNG), n = 86, 58 male (67.4%)). Patients with undisplaced upper limb fractures were randomly assigned to WCG or DNG treatment groups. Primary outcome was the stress stability of the splint material, defined as absence of any deformations or fractures within the splint during study period. Secondary outcomes included patient satisfaction and medical staff opinion. Additionally, biomechanical and chemical analysis of the splint samples was carried out. Results. Of the initial 170 patients, 168 (98.8%) completed at least one follow-up, and were included for analysis of the primary endpoint. Both treatment groups were well-matched regarding to age, sex, and type and localization of the fracture. Splint breakage occurred in three patients (3.6%; 95% confidence interval (CI), 0.007% to 0.102%) in the WCG and in three children (3.5%, 95% CI 0.007% to 0.09%) in the DNG (p > 0.99). The incidence of splint-related adverse events did not differ between the WCG (n = 21; 25.0%) and DNG (n = 24; 27.9%; p = 0.720). Under experimental conditions, the maximal tensile strength of Dynacast samples was higher than those deriving from Woodcast (mean 15.37 N/mm² (SD 1.37) vs 10.75 N/mm² (SD 1.20); p = 0.002). Chemical analysis revealed detection of polyisocyanate-prepolymer in Dynacast and polyester in Woodcast samples. Conclusion. Splint-related adverse events appear similar between WCG and DNG treatment groups during the treatment of undisplaced forearm fractures. Cite this article: Bone Joint J 2020;102-B(10):1405–1411


Bone & Joint Open
Vol. 5, Issue 1 | Pages 69 - 77
25 Jan 2024
Achten J Appelbe D Spoors L Peckham N Kandiyali R Mason J Ferguson D Wright J Wilson N Preston J Moscrop A Costa M Perry DC

Aims

The management of fractures of the medial epicondyle is one of the greatest controversies in paediatric fracture care, with uncertainty concerning the need for surgery. The British Society of Children’s Orthopaedic Surgery prioritized this as their most important research question in paediatric trauma. This is the protocol for a randomized controlled, multicentre, prospective superiority trial of operative fixation versus nonoperative treatment for displaced medial epicondyle fractures: the Surgery or Cast of the EpicoNdyle in Children’s Elbows (SCIENCE) trial.

Methods

Children aged seven to 15 years old inclusive, who have sustained a displaced fracture of the medial epicondyle, are eligible to take part. Baseline function using the Patient-Reported Outcomes Measurement Information System (PROMIS) upper limb score, pain measured using the Wong Baker FACES pain scale, and quality of life (QoL) assessed with the EuroQol five-dimension questionnaire for younger patients (EQ-5D-Y) will be collected. Each patient will be randomly allocated (1:1, stratified using a minimization algorithm by centre and initial elbow dislocation status (i.e. dislocated or not-dislocated at presentation to the emergency department)) to either a regimen of the operative fixation or non-surgical treatment.


Bone & Joint Open
Vol. 4, Issue 5 | Pages 363 - 369
22 May 2023
Amen J Perkins O Cadwgan J Cooke SJ Kafchitsas K Kokkinakis M

Aims

Reimers migration percentage (MP) is a key measure to inform decision-making around the management of hip displacement in cerebral palsy (CP). The aim of this study is to assess validity and inter- and intra-rater reliability of a novel method of measuring MP using a smart phone app (HipScreen (HS) app).

Methods

A total of 20 pelvis radiographs (40 hips) were used to measure MP by using the HS app. Measurements were performed by five different members of the multidisciplinary team, with varying levels of expertise in MP measurement. The same measurements were repeated two weeks later. A senior orthopaedic surgeon measured the MP on picture archiving and communication system (PACS) as the gold standard and repeated the measurements using HS app. Pearson’s correlation coefficient (r) was used to compare PACS measurements and all HS app measurements and assess validity. Intraclass correlation coefficient (ICC) was used to assess intra- and inter-rater reliability.


Bone & Joint Open
Vol. 4, Issue 10 | Pages 735 - 741
2 Oct 2023
Galloway AM Pini S Holton C Perry DC Redmond A Siddle HJ Richards S

Aims

Perthes’ disease is an idiopathic avascular necrosis of the developing femoral head, often causing deformity that impairs physical function. Current treatments aim to optimize the joint reaction force across the hip by enhancing congruency between the acetabulum and femoral head. Despite a century of research, there is no consensus regarding the optimal treatment. The aim of this study was to describe the experiences of children, their families, and clinicians when considering the treatment of Perthes’ disease.

Methods

A qualitative study gathered information from children and their families affected by Perthes’ disease, along with treating clinicians. Interviews followed a coding framework, with the interview schedule informed by behavioural theory and patient and public involvement. Transcripts were analyzed using the framework method.


The Bone & Joint Journal
Vol. 106-B, Issue 7 | Pages 744 - 750
1 Jul 2024
Saeed A Bradley CS Verma Y Kelley SP

Aims

Radiological residual acetabular dysplasia (RAD) has been reported in up to 30% of children who had successful brace treatment of infant developmental dysplasia of the hip (DDH). Predicting those who will resolve and those who may need corrective surgery is important to optimize follow-up protocols. In this study we have aimed to identify the prevalence and predictors of RAD at two years and five years post-bracing.

Methods

This was a single-centre, prospective longitudinal cohort study of infants with DDH managed using a published, standardized Pavlik harness protocol between January 2012 and December 2016. RAD was measured at two years’ mean follow-up using acetabular index-lateral edge (AI-L) and acetabular index-sourcil (AI-S), and at five years using AI-L, AI-S, centre-edge angle (CEA), and acetabular depth ratio (ADR). Each hip was classified based on published normative values for normal, borderline (1 to 2 standard deviations (SDs)), or dysplastic (> 2 SDs) based on sex, age, and laterality.


The Bone & Joint Journal
Vol. 105-B, Issue 10 | Pages 1123 - 1130
1 Oct 2023
Donnan M Anderson N Hoq M Donnan L

Aims

The aim of this study was to investigate the agreement in interpretation of the quality of the paediatric hip ultrasound examination, the reliability of geometric and morphological assessment, and the relationship between these measurements.

Methods

Four investigators evaluated 60 hip ultrasounds and assessed their quality based the standard plane of Graf et al. They measured geometric parameters, described the morphology of the hip, and assigned the Graf grade of dysplasia. They analyzed one self-selected image and one randomly selected image from the ultrasound series, and repeated the process four weeks later. The intra- and interobserver agreement, and correlations between various parameters were analyzed.


The Bone & Joint Journal
Vol. 106-B, Issue 8 | Pages 871 - 878
1 Aug 2024
Pigeolet M Ghufran Syed J Ahmed S Chinoy MA Khan MA

Aims

The gold standard for percutaneous Achilles tendon tenotomy during the Ponseti treatment for idiopathic clubfoot is a tenotomy with a No. 15 blade. This trial aims to establish the technique where the tenotomy is performed with a large-bore needle as noninferior to the gold standard.

Methods

We randomized feet from children aged below 36 months with idiopathic clubfoot on a 1:1 basis in either the blade or needle group. Follow-up was conducted at three weeks and three months postoperatively, where dorsiflexion range, Pirani scores, and complications were recorded. The noninferiority margin was set at 4° difference in dorsiflexion range at three months postoperatively.


Bone & Joint Open
Vol. 5, Issue 5 | Pages 426 - 434
21 May 2024
Phelps EE Tutton E Costa ML Achten J Gibson P Moscrop A Perry DC

Aims

The aim of this study was to explore parents’ experience of their child’s recovery, and their thoughts about their decision to enrol their child in a randomized controlled trial (RCT) of surgery versus non-surgical casting for a displaced distal radius fracture.

Methods

A total of 20 parents of children from 13 hospitals participating in the RCT took part in an interview five to 11 months after injury. Interviews were informed by phenomenology and analyzed using thematic analysis.


Bone & Joint Open
Vol. 5, Issue 4 | Pages 324 - 334
19 Apr 2024
Phelps EE Tutton E Costa ML Achten J Gibson P Perry DC

Aims

The aim of this study was to explore clinicians’ experience of a paediatric randomized controlled trial (RCT) comparing surgical reduction with non-surgical casting for displaced distal radius fractures.

Methods

Overall, 22 staff from 15 hospitals who participated in the RCT took part in an interview. Interviews were informed by phenomenology and analyzed using thematic analysis.


The Bone & Joint Journal
Vol. 105-B, Issue 4 | Pages 455 - 464
15 Mar 2023
de Joode SGCJ Meijer R Samijo S Heymans MJLF Chen N van Rhijn LW Schotanus MGM

Aims

Multiple secondary surgical procedures of the shoulder, such as soft-tissue releases, tendon transfers, and osteotomies, are described in brachial plexus birth palsy (BPBP) patients. The long-term functional outcomes of these procedures described in the literature are inconclusive. We aimed to analyze the literature looking for a consensus on treatment options.

Methods

A systematic literature search in healthcare databases (PubMed, Embase, the Cochrane library, CINAHL, and Web of Science) was performed from January 2000 to July 2020, according to the Preferred Reporting Items for Systematic Reviews and Meta-Analysis guidelines. The quality of the included studies was assessed with the Cochrane ROBINS-I risk of bias tool. Relevant trials studying BPBP with at least five years of follow-up and describing functional outcome were included.


The Bone & Joint Journal
Vol. 104-B, Issue 4 | Pages 519 - 528
1 Apr 2022
Perry DC Arch B Appelbe D Francis P Craven J Monsell FP Williamson P Knight M

Aims

The aim of this study was to inform the epidemiology and treatment of slipped capital femoral epiphysis (SCFE).

Methods

This was an anonymized comprehensive cohort study, with a nested consented cohort, following the the Idea, Development, Exploration, Assessment, Long-term study (IDEAL) framework. A total of 143 of 144 hospitals treating SCFE in Great Britain participated over an 18-month period. Patients were cross-checked against national administrative data and potential missing patients were identified. Clinician-reported outcomes were collected until two years. Patient-reported outcome measures (PROMs) were collected for a subset of participants.


The Bone & Joint Journal
Vol. 104-B, Issue 4 | Pages 510 - 518
1 Apr 2022
Perry DC Arch B Appelbe D Francis P Craven J Monsell FP Williamson P Knight M

Aims

The aim of this study was to evaluate the epidemiology and treatment of Perthes’ disease of the hip.

Methods

This was an anonymized comprehensive cohort study of Perthes’ disease, with a nested consented cohort. A total of 143 of 144 hospitals treating children’s hip disease in the UK participated over an 18-month period. Cases were cross-checked using a secondary independent reporting network of trainee surgeons to minimize those missing. Clinician-reported outcomes were collected until two years. Patient-reported outcome measures (PROMs) were collected for a subset of participants.


The Bone & Joint Journal
Vol. 103-B, Issue 12 | Pages 1821 - 1830
1 Dec 2021
Marson BA Manning JC James M Craxford S Deshmukh SR Perry DC Ollivere BJ

Aims

The aim of this study is to develop a core set of outcome domains that should be considered and reported in all future trials of childhood limb fractures.

Methods

A four-phase study was conducted to agree a set of core outcome domains. Identification of candidate outcome domains were identified through systematic review of trials, and outcome domains relevant to families were identified through semi-structured interviews with 20 families (parent-child pairing or group). Outcome domains were prioritized using an international three-round Delphi survey with 205 panellists and then condensed into a core outcome set through a consensus workshop with 30 stakeholders.


The Bone & Joint Journal
Vol. 95-B, Issue 9 | Pages 1285 - 1289
1 Sep 2013
Inglis M McClelland B Sutherland LM Cundy PJ

Fractures of the forearm (radius or ulna or both) in children have traditionally been immobilised in plaster of Paris (POP) but synthetic cast materials are becoming more popular. There have been no randomised studies comparing the efficacy of these two materials. The aim of this study was to investigate which cast material is superior for the management of these fractures. We undertook a single-centre prospective randomised trial involving 199 patients with acute fractures of the forearm requiring general anaesthesia for reduction. Patients were randomised by sealed envelope into either a POP or synthetic group and then underwent routine closed reduction and immobilisation in a cast. The patients were reviewed at one and six weeks. A satisfaction questionnaire was completed following the removal of the cast. All clinical complications were recorded and the cast indices were calculated. There was an increase in complications in the POP group. These complications included soft areas of POP requiring revision and loss of reduction with some requiring re-manipulation. There was an increased mean padding index in the fractures that lost reduction. Synthetic casts were preferred by the patients. This study indicates that the clinical outcomes and patient satisfaction are superior using synthetic casts with no reduction in safety. Cite this article: Bone Joint J 2013;95-B:1285–9


The Bone & Joint Journal
Vol. 100-B, Issue 4 | Pages 542 - 548
1 Apr 2018
Dayer R Alzahrani MM Saran N Ouellet JA Journeau P Tabard-Fougère A Martinez-Álvarez S Ceroni D

Aims. This multicentre, retrospective study aimed to improve our knowledge of primary pyogenic spinal infections in children by analyzing a large consecutive case series. Patients and Methods. The medical records of children with such an infection, treated at four tertiary institutions between 2004 and 2014, were analyzed retrospectively. Epidemiological, clinical, paraclinical, radiological, and microbiological data were evaluated. There were 103 children, of whom 79 (76.7%) were aged between six months and four years. Results. We confirmed a significant male predominance in the incidence of primary pyogenic spinal infections in children (65%). The lumbar spine was the most commonly affected region, and 27 infections (26.2%) occurred at L4/5. The white blood cell count was normal in 61 children (59%), and the CRP level was normal in 43 (42%). Blood cultures were performed in 95 children, and were positive in eight (8%). A total of 20 children underwent culture of biopsy or aspiration material, which was positive in eight (40%). Methicillin-sensitive Staphylococcus aureus (MSSA) and Kingella (K.) kingae were the most frequently isolated pathogens. Conclusion. MSSA remains the most frequently isolated pathogen in children with primary pyogenic infection of the spine, but K. kingae should be considered as an important pathogen in children aged between six months and four years. Therefore, an empirical protocol for antibiotic treatment should be used, with consideration being made for the triphasic age distribution and specific bacteriological aetiology. In the near future, the results of polymerase chain reaction assay on throat swabs may allow the indirect identification of K. kingae spondylodiscitis in young children and thus aid early treatment. However, these preliminary results require validation by other prospective multicentre studies. Cite this article: Bone Joint J 2018;100-B:542–8


Aims

The study was undertaken to compare the efficacy of Woodcast splints and plaster-of-Paris casts in maintaining correction following sequential manipulation of idiopathic clubfeet.

Methods

In this randomized prospective trial, 23 idiopathic clubfeet were immobilized with plaster-of-Paris casts and 23 clubfeet were immobilized with a splint made of Woodcast that encircled only two-thirds the circumference of the limb. The number of casts or splints needed to obtain full correction, the frequency of cast or splint-related complications, and the time taken for application and removal of the casts and splints were compared.


The Bone & Joint Journal
Vol. 103-B, Issue 3 | Pages 589 - 596
1 Mar 2021
Amin N Kraft J Fishlock A White A Holton C Kinsey S Feltbower R James B

Aims

Osteonecrosis (ON) can cause considerable morbidity in young people who undergo treatment for acute lymphoblastic leukaemia (ALL). The aims of this study were to determine the operations undertaken for ON in this population in the UK, along with the timing of these operations and any sequential procedures that are used in different joints. We also explored the outcomes of those patients treated by core decompression (CD), and compared this with conservative management, in both the pre- or post-collapse stages of ON.

Methods

UK treatment centres were contacted to obtain details regarding surgical interventions and long-term outcomes for patients who were treated for ALL and who developed ON in UKALL 2003 (the national leukaemia study which recruited patients aged 1 to 24 years at diagnosis of ALL between 2003 and 2011). Imaging of patients with ON affecting the femoral head was requested and was used to score all lesions, with subsequent imaging used to determine the final grade. Kaplan-Meier failure time plots were used to compare the use of CD with non surgical management.


Bone & Joint Open
Vol. 1, Issue 12 | Pages 720 - 730
1 Dec 2020
Galloway AM van-Hille T Perry DC Holton C Mason L Richards S Siddle HJ Comer C

Aims

Perthes’ disease is a condition leading to necrosis of the femoral head. It is most common in children aged four to nine years, affecting around one per 1,200 children in the UK. Management typically includes non-surgical treatment options, such as physiotherapy with/without surgical intervention. However, there is significant variation in care with no consensus on the most effective treatment option.

Methods

This systematic review aims to evaluate the effectiveness of non-surgical interventions for the treatment of Perthes’ disease. Comparative studies (experimental or observational) of any non-surgical intervention compared directly with any alternative intervention (surgical, non-surgical or no intervention) were identified from: Cochrane Central Register of Controlled Trials, MEDLINE, EMBASE, the Cumulative Index to Nursing and Allied Health Literature (CINAHL), EMcare, Allied and Complementary Medicine Database (AMED), and the Physiotherapy Evidence Database (PEDro). Data were extracted on interventions compared and methodological quality. For post-intervention primary outcome of radiological scores (Stulberg and/or Mose), event rates for poor scores were calculated with significance values. Secondary outcomes included functional measures, such as range of movement, and patient-reported outcomes such as health-related quality of life.


Bone & Joint Open
Vol. 1, Issue 5 | Pages 167 - 174
31 May 2020
Marson BA Craxford S Deshmukh SR Grindlay D Manning J Ollivere BJ

Aims

To analyze outcomes reported in trials of childhood fractures.

Methods

OVID MEDLINE, Embase, and Cochrane CENTRAL databases were searched on the eighth August 2019. A manual search of trial registries, bibliographic review and internet search was used to identify additional studies. 11,476 studies were screened following PRISMA guidelines. 100 trials were included in the analysis. Data extraction was completed by two researchers for each trial. Study quality was not evaluated. Outcomes reported by trials were mapped onto domains in the World Health Organization (WHO) International Classification of Function framework.


Aims

Slipped capital femoral epiphysis (SCFE) is one of the most common hip diseases of adolescence that can cause marked disability, yet there is little robust evidence to guide treatment. Fundamental aspects of the disease, such as frequency, are unknown and consequently the desire of clinicians to undertake robust intervention studies is somewhat prohibited by a lack of fundamental knowledge.

Methods

The study is an anonymized nationwide comprehensive cohort study with nested consented within the mechanism of the British Orthopaedic Surgery Surveillance (BOSS) Study. All relevant hospitals treating SCFE in England, Scotland, and Wales will contribute anonymized case details. Potential missing cases will be cross-checked against two independent external sources of data (the national administrative data and independent trainee data). Patients will be invited to enrich the data collected by supplementing anonymized case data with patient-reported outcome measures. In line with recommendations of the IDEAL Collaboration, the study will primarily seek to determine incidence, describe case mix and variations in surgical interventions, and explore the relationships between baseline factors (patients and types of interventions) and two-year outcomes.


The Bone & Joint Journal
Vol. 102-B, Issue 2 | Pages 254 - 260
1 Feb 2020
Cheung JPY Cheung PWH

Aims

The aim of this study was to assess whether supine flexibility predicts the likelihood of curve progression in patients with adolescent idiopathic scoliosis (AIS) undergoing brace treatment.

Methods

This was a retrospective analysis of patients with AIS prescribed with an underarm brace between September 2008 to April 2013 and followed up until 18 years of age or required surgery. Patients with structural proximal curves that preclude underarm bracing, those who were lost to follow-up, and those who had poor compliance to bracing (<16 hours a day) were excluded. The major curve Cobb angle, curve type, and location were measured on the pre-brace standing posteroanterior (PA) radiograph, supine whole spine radiograph, initial in-brace standing PA radiograph, and the post-brace weaning standing PA radiograph. Validation of the previous in-brace Cobb angle regression model was performed. The outcome of curve progression post-bracing was tested using a logistic regression model. The supine flexibility cut-off for curve progression was analyzed with receiver operating characteristic curve.


The Bone & Joint Journal
Vol. 101-B, Issue 6 | Pages 639 - 645
1 Jun 2019
Gelfer Y Wientroub S Hughes K Fontalis A Eastwood DM

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.

Patients and Methods

A prospectively registered systematic review was carried out according to Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. Studies that reported idiopathic clubfoot treated by the Ponseti method between 1 January 2012 and 31 May 2017 were included. The data extracted included demographics, Ponseti methodology, assessment methods, and rates of relapse and surgery.


The Bone & Joint Journal
Vol. 100-B, Issue 12 | Pages 1655 - 1660
1 Dec 2018
Giesberts RB G. Hekman EE Verkerke GJ M. Maathuis PG

Aims

The Ponseti method is an effective evidence-based treatment for clubfoot. It uses gentle manipulation to adjust the position of the foot in serial treatments towards a more physiological position. Casting is used to hold the newly achieved position. At first, the foot resists the new position imposed by the plaster cast, pressing against the cast, but over time the tissues are expected to adapt to the new position and the force decreases. The aim of this study was to test this hypothesis by measuring the forces between a clubfoot and the cast during treatment with the Ponseti method.

Patients and Methods

Force measurements were made during the treatment of ten idiopathic clubfeet. The mean age of the patients was seven days (2 to 30); there were nine boys and one girl. Force data were collected for several weeks at the location of the first metatarsal and the talar neck to determine the adaptation rate of the clubfoot.


The Bone & Joint Journal
Vol. 100-B, Issue 5 | Pages 680 - 684
1 May 2018
Perry DC Wright JG Cooke S Roposch A Gaston MS Nicolaou N Theologis T

Aims

High-quality clinical research in children’s orthopaedic surgery has lagged behind other surgical subspecialties. This study used a consensus-based approach to identify research priorities for clinical trials in children’s orthopaedics.

Methods

A modified Delphi technique was used, which involved an initial scoping survey, a two-round Delphi process and an expert panel formed of members of the British Society of Children’s Orthopaedic Surgery. The survey was conducted amongst orthopaedic surgeons treating children in the United Kingdom and Ireland.


The Journal of Bone & Joint Surgery British Volume
Vol. 87-B, Issue 9 | Pages 1259 - 1263
1 Sep 2005
Steinlechner CWB Mkandawire NC

The management of chronic osteomyelitis requires the excision of necrotic and infected material followed by the prolonged administration of antibiotics. Sequestrectomy may be required before an involucrum has formed, resulting in a longitudinal bone defect. This can be difficult to fill. Vascularised grafts are complicated by a high rate of recurrent infection and thrombosis. We have managed defects of long bones in children after sequestrectomy by the use of non-vascularised fibular grafts harvested subperiosteally and held by an intramedullary Kirschner wire. Eight children underwent this procedure. In six the tibia was involved and in one each the humerus and radius. One patient was lost to follow-up. Six grafts united at both ends within 12 weeks. The seventh developed an infected nonunion distally which united after further debridement. One patient required a further sequestrectomy which did not compromise union. We have found this to be a straightforward technique with reliable results and were able to salvage the limb in all the seven patients who were reviewed


The Bone & Joint Journal
Vol. 99-B, Issue 8 | Pages 1109 - 1114
1 Aug 2017
Lang PJ Avoian T Sangiorgio SN Nazif MA Ebramzadeh E Zionts LE

Aims

After the initial correction of congenital talipes equinovarus (CTEV) using the Ponseti method, a subsequent dynamic deformity is often managed by transfer of the tendon of tibialis anterior (TATT) to the lateral cuneiform. Many surgeons believe the lateral cuneiform should be ossified before surgery is undertaken. This study quantifies the ossification process of the lateral cuneiform in children with CTEV between one and three years of age.

Patients and Methods

The length, width and height of the lateral cuneiform were measured in 43 consecutive patients with unilateral CTEV who had been treated using the Ponseti method. Measurements were taken by two independent observers on standardised anteroposterior and lateral radiographs of both feet taken at one, two and three years of age.


The Bone & Joint Journal
Vol. 98-B, Issue 11 | Pages 1554 - 1562
1 Nov 2016
Martinkevich P Rahbek O Stilling M Pedersen LK Gottliebsen M Søballe K Møller-Madsen B

Aims

To compare the structural durability of hydroxyapatite-tricalcium phosphate (HATCP) to autologous iliac crest bone graft in calcaneal lengthening osteotomy (CLO) for pes planovalgus in childhood.

Patients and Methods

We present the interim results of ten patients (HATCP, n = 6 and autograft, n = 5) with a mean age of 11.5 years (8.2 to 14.2) from a randomised controlled non-inferiority trial with six months follow-up. The primary outcome was the stability of the osteotomy as measured by radiostereometric analysis. A non-inferiority margin of ≤ 2 mm osteotomy compression was set.


The Bone & Joint Journal
Vol. 98-B, Issue 9 | Pages 1270 - 1275
1 Sep 2016
Park S Kang S Kim JY

Aims

Our aim was to investigate the predictive factors for the development of a rebound phenomenon after temporary hemiepiphysiodesis in children with genu valgum.

Patients and Methods

We studied 37 limbs with idiopathic genu valgum who were treated with hemiepiphyseal stapling, and with more than six months remaining growth at removal of the staples. All children were followed until skeletal maturity or for more than two years after removal of the staples.


The Bone & Joint Journal
Vol. 97-B, Issue 4 | Pages 558 - 563
1 Apr 2015
Windolf M Fischer MF Popp AW Matthys R Schwieger K Gueorguiev B Hunter JB Slongo TF

End caps are intended to prevent nail migration (push-out) in elastic stable intramedullary nailing. The aim of this study was to investigate the force at failure with and without end caps, and whether different insertion angles of nails and end caps would alter that force at failure.

Simulated oblique fractures of the diaphysis were created in 15 artificial paediatric femurs. Titanium Elastic Nails with end caps were inserted at angles of 45°, 55° and 65° in five specimens for each angle to create three study groups. Biomechanical testing was performed with axial compression until failure. An identical fracture was created in four small adult cadaveric femurs harvested from two donors (both female, aged 81 and 85 years, height 149 cm and 156 cm, respectively). All femurs were tested without and subsequently with end caps inserted at 45°.

In the artificial femurs, maximum force was not significantly different between the three groups (p = 0.613). Push-out force was significantly higher in the cadaveric specimens with the use of end caps by an up to sixfold load increase (830 N, standard deviation (SD) 280 vs 150 N, SD 120, respectively; p = 0.007).

These results indicate that the nail and end cap insertion angle can be varied within 20° without altering construct stability and that the risk of elastic stable intramedullary nailing push–out can be effectively reduced by the use of end caps.

Cite this article: Bone Joint J 2015;97-B:558–63.


The Bone & Joint Journal
Vol. 97-B, Issue 12 | Pages 1718 - 1725
1 Dec 2015
Vanhegan IS Cashman JP Buddhdev P Hashemi-Nejad A

Slipped upper femoral epiphysis (SUFE) is the most common hip disorder to affect adolescents. Controversy exists over the optimal treatment of severe slips, with a continuing debate between in situ fixation versus corrective surgery. We present our experience in a series of 57 patients presenting with severe unilateral SUFE (defined > 50°) managed with a subcapital cuneiform osteotomy.

Between 2001 and 2011, 57 patients (35 male, 22 female) with a mean age of 13.1 years (9.6 to 20.3, SD 2.3) were referred to our tertiary referral institution with a severe slip. The affected limb was rested in slings and springs before corrective surgery which was performed via an anterior Smith-Petersen approach. Radiographic analysis confirmed an improvement in mean head–shaft slip angle from 53.8o (standard deviation (sd) 3.2) pre-operatively to 9.1o (sd 3.1) post-operatively, with minimal associated femoral neck shortening. In total 50 (88%) patients were complication free at a mean follow-up of seven years (2.8 to 13.9 years, sd 3). Their mean Oxford hip score was 44 (37 to 48) and median visual analogue pain score was 0 out of 10 (interquartile range 0 to 4). A total of six patients (10.5%) developed avascular necrosis requiring further surgery and one (1.8%) patient developed chondrolysis but declined further intervention.

This is a technically demanding operation with variable outcomes reported in the literature. We have demonstrated good results in our tertiary centre.

Cite this article: Bone Joint J 2015;97-B:1718–25.


The Bone & Joint Journal
Vol. 96-B, Issue 11 | Pages 1556 - 1560
1 Nov 2014
Canavese F Charles YP Dimeglio A Schuller S Rousset M Samba A Pereira B Steib J

Assessment of skeletal age is important in children’s orthopaedics. We compared two simplified methods used in the assessment of skeletal age. Both methods have been described previously with one based on the appearance of the epiphysis at the olecranon and the other on the digital epiphyses. We also investigated the influence of assessor experience on applying these two methods.

Our investigation was based on the anteroposterior left hand and lateral elbow radiographs of 44 boys (mean: 14.4; 12.4 to 16.1 ) and 78 girls (mean: 13.0; 11.1 to14.9) obtained during the pubertal growth spurt. A total of nine observers examined the radiographs with the observers assigned to three groups based on their experience (experienced, intermediate and novice). These raters were required to determined skeletal ages twice at six-week intervals. The correlation between the two methods was determined per assessment and per observer groups. Interclass correlation coefficients (ICC) evaluated the reproducibility of the two methods.

The overall correlation between the two methods was r = 0.83 for boys and r = 0.84 for girls. The correlation was equal between first and second assessment, and between the observer groups (r ≥ 0.82). There was an equally strong ICC for the assessment effect (ICC ≤ 0.4%) and observer effect (ICC ≤ 3%) for each method. There was no significant (p < 0.05) difference between the levels of experience.

The two methods are equally reliable in assessing skeletal maturity. The olecranon method offers detailed information during the pubertal growth spurt, while the digital method is as accurate but less detailed, making it more useful after the pubertal growth spurt once the olecranon has ossified.

Cite this article: Bone Joint J 2014;3:1556–60


The Bone & Joint Journal
Vol. 95-B, Issue 7 | Pages 993 - 1000
1 Jul 2013
Lee SC Shim JS Seo SW Lim KS Ko KR

We compared the accuracy of the growth remaining method of assessing leg-length discrepancy (LLD) with the straight-line graph method, the multiplier method and their variants. We retrospectively reviewed the records of 44 patients treated by percutaneous epiphysiodesis for LLD. All were followed up until maturity. We used the modified Green–Anderson growth-remaining method (Method 1) to plan the timing of epiphysiodesis. Then we presumed that the other four methods described below were used pre-operatively for calculating the timing of epiphysiodesis. We then assumed that these four methods were used pre-operatively. Method 2 was the original Green–Anderson growth-remaining method; Method 3, Paley’s multiplier method using bone age; Method 4, Paley’s multiplier method using chronological age; and Method 5, Moseley’s straight-line graph method. We compared ‘Expected LLD at maturity with surgery’ with ‘Final LLD at maturity with surgery’ for each method. Statistical analysis revealed that ‘Expected LLD at maturity with surgery’ was significantly different from ‘Final LLD at maturity with surgery’. Method 2 was the most accurate. There was a significant correlation between ‘Expected LLD at maturity with surgery’ and ‘Final LLD at maturity with surgery’, the greatest correlation being with Method 2. Generally all the methods generated an overcorrected value. No method generates the precise ‘Expected LLD at maturity with surgery’. It is essential that an analysis of the pattern of growth is taken into account when predicting final LLD. As many additional data as possible are required.

Cite this article: Bone Joint J 2013;95-B:993–1000.


The Bone & Joint Journal
Vol. 95-B, Issue 11 | Pages 1570 - 1574
1 Nov 2013
Maripuri SN Gallacher PD Bridgens J Kuiper JH Kiely NT

We undertook a randomised clinical trial to compare treatment times and failure rates between above- and below-knee Ponseti casting groups. Eligible children with idiopathic clubfoot, treated using the Ponseti method, were randomised to either below- or above-knee plaster of Paris casting. Outcome measures were total treatment time and the occurrence of failure, defined as two slippages or a treatment time above eight weeks.

A total of 26 children (33 feet) were entered into the trial. The above-knee group comprised 17 feet in 13 children (ten boys and three girls, median age 13 days (1 to 40)) and the below-knee group comprised 16 feet in 13 children (ten boys and three girls, median age 13 days (5 to 20)). Because of six failures (37.5%) in the below-knee group, the trial was stopped early for ethical reasons. The rate of failure was significantly higher in the below-knee group (p = 0.039). The median treatment times of six weeks in the below-knee and four weeks in the above-knee group differed significantly (p = 0.01).

This study demonstrates that the use of a below-knee plaster of Paris cast in conjunction with the Ponseti technique leads to unacceptably high failure rates and significantly longer treatment times. Therefore, this technique is not recommended.

Cite this article: Bone Joint J 2013;95-B:1570–4.


The Bone & Joint Journal
Vol. 95-B, Issue 8 | Pages 1027 - 1034
1 Aug 2013
Khan T Joseph B

Congenital pseudarthrosis of the tibia (CPT) is a rare but well recognised condition. Obtaining union of the pseudarthrosis in these children is often difficult and may require several surgical procedures. The treatment has changed significantly since the review by Hardinge in 1972, but controversies continue as to the best form of surgical treatment. This paper reviews these controversies.

Cite this article: Bone Joint J 2013;95-B:1027–34.


The Journal of Bone & Joint Surgery British Volume
Vol. 90-B, Issue 11 | Pages 1512 - 1515
1 Nov 2008
Brewster MBS Gupta M Pattison GTR Dunn-van der Ploeg ID

We have modified the Ponseti casting technique by using a below-knee Softcast instead of an above-knee plaster of Paris cast. Treatment was initiated as soon as possible after birth and the Pirani score was recorded at each visit. Following the manipulation techniques of Ponseti, a below-knee Softcast was applied directly over a stockinette for a snug fit and particular attention was paid to creating a deep groove above the heel to prevent slippage. If necessary, a percutaneous Achilles tenotomy was performed and casting continued until the child was fitted with Denis Browne abduction boots.

Between April 2003 and May 2007 we treated 51 consecutive babies with 80 idiopathic club feet with a mean age at presentation of 4.5 weeks (4 days to 62 weeks). The initial mean Pirani score was 5.5 (3 to 6). It took a mean of 8.5 weeks (4 to 53) of weekly manipulation and casting to reach the stage of percutaneous Achilles tenotomy. A total of 20 feet (25%) did not require a tenotomy and for the 60 that did, the mean Pirani score at time of operation was 2.5 (0.5 to 3). Denis Browne boots were applied at a mean of 10 weeks (4 to 56) after presentation. The mean time from tenotomy to boots was 3.3 weeks (2 to 10). We experienced one case of cast-slippage during a period of non-attendance, which prolonged the casting process. One case of prolonged casting required repeated tenotomy, and three feet required repeated tenotomy and casting after relapsing while in Denis Browne boots.

We believe the use of a below-knee Softcast in conjunction with Ponseti manipulation techniques shows promising initial results which are comparable to those using above-knee plaster of Paris casts.


The Journal of Bone & Joint Surgery British Volume
Vol. 93-B, Issue 6 | Pages 833 - 838
1 Jun 2011
Huber H Dora C Ramseier LE Buck F Dierauer S

Between June 2001 and November 2008 a modified Dunn osteotomy with a surgical hip dislocation was performed in 30 hips in 28 patients with slipped capital femoral epiphysis. Complications and clinical and radiological outcomes after a mean follow-up of 3.8 years (1.0 to 8.5) were documented. Subjective outcome was assessed using the Harris hip score and the Western Ontario and McMaster Universities osteoarthritis index questionnaire.

Anatomical or near-anatomical reduction was achieved in all cases. The epiphysis in one hip showed no perfusion intra-operatively and developed avascular necrosis. There was an excellent outcome in 28 hips. Failure of the implants with a need for revision surgery occurred in four hips.

Anatomical reduction can be achieved by this technique, with a low risk of avascular necrosis. Cautious follow-up is necessary in order to avoid implant failure.


The Journal of Bone & Joint Surgery British Volume
Vol. 93-B, Issue 2 | Pages 257 - 261
1 Feb 2011
Rejholec M

In late developmental dysplasia of the hip in childhood, the deformed dysplastic acetabulum is malaligned and has lost its shape due to pressure from the subluxed femoral head. The outer part of the acetabulum involves the upper part of the original acetabulum, thereby giving a bipartite appearance. A clear edge separates the outer from inner part which represents the lower part of the original acetabulum and has no direct contact with the femoral head.

Combined pelvic osteotomy (CPO) using a Lance acetabuloplasty with either a Salter or a Pemberton procedure restores the original shape and realigns the acetabulum. A total of 20 children (22 hips), with a mean age of 46 months (28 to 94) at primary operation underwent CPO with follow-up for between 12 and 132 months.

In each case concentric stable reduction with good acetabular cover was achieved and maintained throughout the period of follow-up.


The Journal of Bone & Joint Surgery British Volume
Vol. 92-B, Issue 11 | Pages 1586 - 1588
1 Nov 2010
Perry DC Tawfiq SM Roche A Shariff R Garg NK James LA Sampath J Bruce CE

The association between idiopathic congenital talipes equinovarus (CTEV) and developmental dysplasia of the hip is uncertain. We present an observational cohort study spanning 6.5 years of selective ultrasound screening of hips in clubfoot. From 119 babies with CTEV there were nine cases of hip dysplasia, in seven individuals. This suggests that 1 in 17 babies with CTEV will have underlying hip dysplasia.

This study supports selective ultrasound screening of hips in infants with CTEV.


The Journal of Bone & Joint Surgery British Volume
Vol. 92-B, Issue 8 | Pages 1148 - 1151
1 Aug 2010
Song K

We have investigated whether early anatomical open reduction and internal fixation (ORIF) reduces the incidence of complications of fracture of the femoral neck in children, including avascular necrosis, compared with closed reduction and internal fixation (CRIF). We retrospectively reviewed 27 such fractures (15 type-II and 12 type-III displaced fractures) in children younger than 16 years of age seen in our hospital between February 1989 and March 2007. We divided the patients into three groups according to the quality of the reduction (anatomical, acceptable, and unacceptable) and the clinical results into two groups (satisfactory and unsatisfactory). Of the 15 fractures treated by ORIF, 14 (93.3%) had anatomical reduction and reduction was acceptable in one. Of the 12 treated by CRIF, three (25.0%) had anatomical reduction, eight had acceptable reduction (66.7%), and one (8.3%) unacceptable reduction. Of the 15 fractures treated by ORIF, 14 (93.3%) had a good result and one a fair result. Of the 12 treated by CRIF, seven (58.3%) had a good result, two (16.7%) a fair result and three (25.0%) a poor result. There were seven complications in five patients.

ORIF gives better reduction with fewer complications, including avascular necrosis, than does CRIF in fractures of the femoral neck in children.


The Journal of Bone & Joint Surgery British Volume
Vol. 93-B, Issue 1 | Pages 102 - 107
1 Jan 2011
Di Mascio L Chin K Fox M Sinisi M

We describe the early results of glenoplasty as part of the technique of operative reduction of posterior dislocation of the shoulder in 29 children with obstetric brachial plexus palsy. The mean age at operation was five years (1 to 18) and they were followed up for a mean of 34 months (12 to 67).

The mean Mallet score increased from 8 (5 to 13) to 12 (8 to 15) at final follow-up (p < 0.001). The mean passive forward flexion was increased by 18° (p = 0.017) and the mean passive abduction by 24° (p = 0.001). The mean passive lateral rotation also increased by 54° (p < 0.001), but passive medial rotation was reduced by a mean of only 7°. One patient required two further operations. Glenohumeral stability was achieved in all cases.


The Journal of Bone & Joint Surgery British Volume
Vol. 92-B, Issue 3 | Pages 436 - 441
1 Mar 2010
Murnaghan ML Simpson P Robin JG Shore BJ Selber P Graham HK

We have tested the reliability of a recently reported classification system of hip morphology in adolescents with cerebral palsy in whom the triradiate cartilage was closed. The classification is a six-grade ordinal scale, based on the measurement of the migration percentage and an assessment of Shenton’s arch, deformity of the femoral head, acetabular deformity and pelvic obliquity.

Four paediatric orthopaedic surgeons and four physiotherapists received training in the use of the classification which they applied to the assessment of 42 hip radiographs, read on two separate occasions. The inter- and intra-observer reliability was assessed using the intraclass correlation coefficient and found to be excellent, with it ranging from 0.88 to 0.94. The classification in our study was shown to be valid (based on migration percentage), and reliable. As a result we believe that it can now be used in studies describing the natural history of hip displacement in cerebral palsy, in outcome studies and in communication between clinicians.


The Journal of Bone & Joint Surgery British Volume
Vol. 91-B, Issue 9 | Pages 1232 - 1236
1 Sep 2009
Fahmy MAL Hatata MZ Al-Seesi H

We describe a method of pinning extension supracondylar fractures of the humerus in children. Following closed reduction, a posterior intrafocal wire is inserted and a second lateral wire added when needed for rotational stability. Between May 2002 and November 2005 we performed this technique in 69 consecutive patients. A single posterior wire was used in 29 cases, and two wires in 40. The mean follow-up was two years (21 to 30 months). The results were assessed according to Flynn’s criteria. In the single-wire group there were 21 excellent, five good and one poor result. Two patients were lost to follow-up. In the two-wire group there were 32 excellent, two good and three poor results. Three were lost to follow-up. The poor results were due to a failure to achieve adequate reduction, fixation or both.

We conclude that the intact posterior periosteal hinge can be used successfully in the clinical situation, giving results that compare well with other techniques of pinning. The posterior route offers an attractive alternative method for fixation of supracondylar fractures of the humerus in children.


The Journal of Bone & Joint Surgery British Volume
Vol. 91-B, Issue 8 | Pages 1086 - 1089
1 Aug 2009
MacNamara P Yam A Horwitz MD

We retrospectively studied the possibility that direct trauma to the biceps muscle might be the cause of poor elbow flexion and supination in 18 consecutive children with birth lesions of the brachial plexus who had delayed or impaired biceps recovery despite neurophysiological evidence of reinnervation. All had good shoulder and hand function at three months of age. Eight recovered a strong biceps after six months, but nine required a pectoralis minor to biceps transfer to augment elbow flexion and supination. One had a delayed but good recovery of the biceps after microsurgical reconstruction of the plexus. All had a clinical ‘pseudotumour’ in the biceps muscle, which was biopsied during pectoralis minor transfer in two patients and showed rupture and degeneration of muscle fibres with a fibro-fatty infiltrate, suggesting previous muscle trauma.

Direct muscle trauma is an uncommon but important cause of delayed or impaired biceps recovery after brachial plexus birth injuries. Surgery to reinnervate the biceps muscle will not work if substantial muscle damage is present when a suitable muscle transfer should be considered.


The Journal of Bone & Joint Surgery British Volume
Vol. 91-B, Issue 8 | Pages 1090 - 1093
1 Aug 2009
van der Sluijs JA De Gier L Verbeke JI Witbreuk MMEH Pruys JEH van Royen BJ

We prospectively studied the benefits and risks of prolonged treatment with the Pavlik harness in infants with idiopathic developmental dysplasia of the hip. Bracing was continued as long as abduction improved. It was started at a mean age of four months (1 to 6.9). Outcome measures were the number of successful reductions, the time to reduction, the acetabular index and evidence of avascular necrosis at follow-up at one year.

In 50 infants with 62 subluxated and dislocated hips (42 Graf type III and 20 type IV), 37 were reduced successfully with a mean time to reduction of 13.4 weeks (sd 6.8). Bracing was successful in 31 type-III (73.8%) and in only six type-IV hips (20%, p = 0.002). Avascular necrosis was seen in ten hips.

Prolonged treatment with the Pavlik harness for developmental dysplasia of the hip over the age of one month can be beneficial in type-III hips, but it is unclear as to whether this is the optimal treatment, since it may postpone the need for closed or open reduction to a more unfavourable age. The use of the Pavlik harness in type-IV hips in this age group is questionable, but if used, prolonged bracing is not advised.


The Journal of Bone & Joint Surgery British Volume
Vol. 91-B, Issue 5 | Pages 655 - 658
1 May 2009
Paton RW Choudry Q

In a prospective study over 11 years we assessed the relationship between neonatal deformities of the foot and the presence of ultrasonographic developmental dysplasia of the hip (DDH). Between 1 January 1996 and 31 December 2006, 614 infants with deformities of the foot were referred for clinical and ultrasonographic evaluation. There were 436 cases of postural talipes equinovarus deformity (TEV), 60 of fixed congenital talipes equinovarus (CTEV), 93 of congenital talipes calcaneovalgus (CTCV) and 25 of metatarsus adductus.

The overall risk of ultrasonographic dysplasia or instability was 1:27 in postural TEV, 1:8.6 in CTEV, 1:5.2 in CTCV and 1:25 in metatarsus adductus.

The risk of type-IV instability of the hip or irreducible dislocation was 1:436 (0.2%) in postural TEV, 1:15.4 (6.5%) in CTCV and 1:25 (4%) in metatarsus adductus. There were no cases of hip instability (type IV) or of irreducible dislocation in the CTEV group.

Routine screening for DDH in cases of postural TEV and CTEV is no longer advocated. The former is poorly defined, leading to the over-diagnosis of a possibly spurious condition. Ultrasonographic imaging and surveillance of hips in infants with CTCV and possibly those with metatarsus adductus should continue.


The Journal of Bone & Joint Surgery British Volume
Vol. 91-B, Issue 2 | Pages 245 - 248
1 Feb 2009
Myers J Hadlow S Lynskey T

Since September 1964, neonates born in New Plymouth have undergone clinical examination for instability of the hip in a structured clinical screening programme. Of the 41 563 babies born during this period, 1639 were diagnosed as having unstable hips and 663 (1.6%) with persisting instability were splinted, five of which failed. Also, three unsplinted hips progressed to congenital dislocation, and there were four late-presenting (walking) cases, giving an overall failure rate of 0.29 per 1000 live births, with an incidence of late-walking congenital dislocation of the hip of 0.1 per 1000 live births.

This study confirms that clinical screening for neonatal instability of the hip by experienced orthopaedic examiners significantly reduces the incidence of late-presenting (walking) congenital dislocation of the hip.


The Journal of Bone & Joint Surgery British Volume
Vol. 90-B, Issue 11 | Pages 1507 - 1511
1 Nov 2008
Kenet G Ezra E Wientroub S Steinberg DM Rosenberg N Waldman D Hayek S

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.