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Orthopaedic Proceedings
Vol. 105-B, Issue SUPP_13 | Pages 37 - 37
7 Aug 2023
Mudiganty S Jayadev C Carrington R Miles J Donaldson J Mcculloch R
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Abstract. Introduction. Total knee replacement (TKR) in patients with skeletal dysplasia is technically challenging surgery due to deformity, joint contracture, and associated co-morbidities. The aim of this study is to follow up patients with skeletal dysplasia following a TKR. Methodology. We retrospectively reviewed 22 patients with skeletal dysplasia who underwent 31 TKRs at our institution between 2006 and 2022. Clinical notes, operative records and radiographic data were reviewed. Results. Achondroplasia was the most common skeletal dysplasia (8), followed by Chondrodysplasia punctata (7) and Spondyloepiphyseal dysplasia (5). There were fourteen men and eight women with mean age of 51 years (28 to 73). The average height of patients was 1.4 metres (1.16–1.75) and the mean weight was 64.8 Kg (34.3–100). The mean follow up duration was 68.32 months (1–161). Three patients died during follow up. Custom implants were required in twelve patients (38.71%). Custom jigs were utilised in six patients and two patients underwent robotic assisted surgery. Hinged TKR was used in seventeen patients (54.84%), posterior stabilised TKR in nine patients (29.03%), and cruciate retaining TKR in five patients (16.13%). One patient underwent a patella resurfacing for persistent anterior knee pain and another had an intra-operative medial tibial plateau fracture which was managed with fixation. No revisions occurred during the follow up period. Conclusion. Despite the technical challenges and complexity of TKR within this unique patient group, we demonstrate good implant survivorship during the study period. Cross sectional imaging is recommended preoperatively for precise planning and templating


Orthopaedic Proceedings
Vol. 93-B, Issue SUPP_IV | Pages 454 - 455
1 Nov 2011
Kim R Scuderi G Dennis D
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Introduction: Total knee arthroplasty (TKA) in patients with skeletal dysplasia is challenging due to the anatomic variances and deformities. The purpose of this review is to understand the technical issues involved in treating these patients. Methods: Clinical notes, operative reports, and radiographs were retrospectively reviewed of 12 knees in 8 patients: 3 achondroplasia patients (one with bilateral 10° varus deformities, one with a 30° varus deformity in one knee and 25° varus deformity in the other knee, one with a 14° varus deformity); 3 multiple hereditary exostosis patients (one with bilateral 45° valgus deformities, one with a 45° valgus deformity in one knee and 15° valgus deformity in the other, one with a 11° valgus deformity); and 2 osteogenesis imperfecta patients (one with a 25° varus deformity, one with a 17° valgus deformity). Results: Surgical exposure required preoperative placement of soft-tissue expanders to avoid wound complications (1 knee), quadriceps snip (2 knees), and hardware removal (1 knee). Intraoperative balancing of the knee was more complex requiring a lateral epicondylar osteotomy (3 knees), medial release (6 knees), lateral retinacular release (6 knees), and proximal realignment to improve patellar tracking (1 knee). 5 knees required a constrained insert, 2 required tibial augments, one required use of cement and screw technique, and one required modification of an all-polyethylene tibia to accommodate the deformed tibial anatomy. 2 knees required custom tibial components. Complications included 2 peroneal nerve palsies which resolved 3 months postoperatively. Range of motion preoperatively averaged 103° (range 45 to 130°) and 100° postoperatively (range 85 to 120°). All patients were pain-free at their last followup (average follow-up 3.9 years). Conclusion: Special considerations must be made regarding surgical exposure, ligament balancing, implant selection, and anticipation of complications due to the unusual deformities when performing TKA in skeletal dysplasia patients


Orthopaedic Proceedings
Vol. 95-B, Issue SUPP_7 | Pages 7 - 7
1 Feb 2013
Sewell M Carrington R Pollock R Skinner J Cannon S Briggs T
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Patients with skeletal dysplasia are prone to developing advanced degenerative knee disease requiring total knee replacement (TKR) at a younger age than the general population. TKR in this unique group of patients is a technically demanding procedure due to the bone deformity, flexion contracture, generalised hypotonia and ligamentous laxity. We set out to retrospectively review the outcome of 11 TKR's performed in eight patients with skeletal dysplasia at our institution using the SMILES custom-made rotating-hinge total knee system. There were 3 males and 5 females with mean age 57 years (range, 41–79 years), mean height 138 cm (range, 122–155 cm) and mean weight 56 kg (range, 40–102 kg). Preoperative diagnoses included achondroplasia, spondyloepiphyseal dysplasia, pseudoachondroplasia, multiple epiphyseal dysplasia, morquio syndrome, diastrophic dysplasia and Larson's Syndrome. Patients were followed clinically and radiographically for a mean of 7 years (range, 3–11.5 years). Knee pain and function improved in all 11 joints. Mean Knee Society clinical and function scores improved from 24 (range, 14–36) and 20 points (range, 5–40) preoperatively to 68 (range, 28–80) and 50 points (range, 22–74) respectively at final follow-up. Four complications were recorded (36%), including a patellar fracture following a fall, a tibial periprosthetic fracture, persistent anterior knee pain and a femoral component revision for aseptic loosening. Our results suggest that custom rotating-hinge TKR in patients with skeletal dysplasia is effective at relieving pain, optimising movement and improving function. It compensates for bony deformity and ligament deficiency and reduces the need for corrective osteotomy. Patellofemoral joint complications are frequent and functional outcome is worse than primary TKR in the general population. Submission endorsed by Mr Peter Calder, Consultant Orthopaedic Surgeon and Society member


Orthopaedic Proceedings
Vol. 104-B, Issue SUPP_5 | Pages 26 - 26
1 Apr 2022
Parnami V Shah V Ranmuthuge S Giles S Fernandes J
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Introduction. To evaluate the results of correction of knee deformities based on deformity analysis in Achondroplasia, the commonest skeletal dysplasia as some have concomitant ligamentous deformities. Materials and Methods. Retrospective study from a prospective database (2007–2020) of achondroplasts who underwent growth modulation. Analysis of medical records with objective measurement of mechanical axis radiographs was done (Traumacad). Satisfactory alignment was defined as neutral to slightly varus (0–15 mm MAD) so that the MCL/LCL laxity is not revealed. Results. 23 patients, 41 limbs, 34 bilateral, 6 unilateral underwent multiple growth modulation procedures. 2 had valgus knees. 15 patients underwent proximal fibular epiphysiodesis in addition for LCL laxity with one isolated fibular epiphysiodesis. Mechanical axis deviation (MAD) improved or normalised in 16 patients (70%). 4 patients were still undergoing correction. 4 patients needed further surgery out of which 2 patients were over 13 years when growth modulation was attempted and 2 needed correction of ankle varus. JLCA improved/ normalised in 12 patients (75%) with evidence of indirect LCL tightening and no improvement was seen in 4. The rate of correction was MAD 0.61mm/month, LDFA 0.29°/month and MPTA 0.13°/month; expectedly lower in achondroplasia due to lower growth velocity. Conclusions. This study highlights the pathology, application of growth modulation as per deformity analysis unlike previous studies. Proximal fibular epiphysiodesis improves LCL laxity in a majority of these children and is a simple procedure compared to our published series with indirect LCL tightening with frames


Orthopaedic Proceedings
Vol. 103-B, Issue SUPP_3 | Pages 23 - 23
1 Mar 2021
Kelley S Maddock C Bradley C Gargan M Safir O
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The use of total hip arthroplasty in adolescents for end-stage degenerative hip disease is controversial with few reported outcomes in the literature. The purpose of the study was to report the outcomes of total hip arthroplasty in a cohort of adolescents managed by a multidisciplinary team of paediatric and adult orthopaedic surgeons from a single centre. A multidisciplinary clinic consisting of paediatric and adult hip surgeons was established in 2013 to identify, treat and prospectively follow adolescents who would potentially beneift from a total hip arthoplasty. To date 29 consecutive adolescent patients (20 female, 9 male, 32 hips) with end stage degenerative hip disease have undergone cementless primary total hip arthroplasty. Mean age at decision to treat was 15.7 years (age 11.4–18.5). Ten different underlying paediatric specific pathologies were documented including DDH, cerebral palsy, JIA, skeletal dysplasias, SCFE and idiopathic chondrolysis. Three patients had bilateral staged procedures. Clinical baseline and outcomes were measured using Oxford Hip Score (OHS), WOMAC score and ASKp scores. Radiographic follow-up was conducted at 6 weeks, 6 months and yearly thereafter. Post-operative complications were recorded. Twenty-five hips were eligible for minimum 2-year follow-up scoring at a mean 2.7 years (2.0–3.6 years). No intraoperative complications occurred. One case of recalcitrant postoperative psoas tendonitis occured. OHS improved from 25 (7–43) to 41 (23–48). WOMAC improved from 48 (12–8) to 12 (1–44), and ASKp improved from 78% (33–98%) to 93% (73–100%). Radiographic review revealed acceptable alignment of all components with no signs of loosening or wear. No revision of components was required. One patient died at 6 months post op from an unrelated condition. The early term results of total hip arthroplasty in adolescents from our multidisciplinary program are encouraging. Improvements in quality of life to normal values were seen as were hip scores consistent with satisfactory joint function. Depite the range of complex and varied causes of arthritis seen in this population the establishment of combined paediatric and adult orthopaedic surgical teams appears to be a successful model to manage end-stage degenerative hip disease in adolescents


Orthopaedic Proceedings
Vol. 97-B, Issue SUPP_9 | Pages 9 - 9
1 Aug 2015
Yeo A Richards C Eastwood D
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This study aimed to define the rates of lower limb angular correction using temporary hemiepiphysiodesis in differing skeletal pathologies. A retrospective review of 61 children (36M:25F) with angular deformities about the knee who underwent 8-plate hemiepiphysiodesis (mean age 10.8y) was undertaken. The children were divided into 9 groups based on their underlying pathology (lower limb hypoplasia, Blount's disease, skeletal dysplasia, rickets, metabolic disease, acquired growth disturbance, vascular malformation, steroid use and complex genetic disorders). Radiographic measurements of each limb segment was undertaken using the TraumaCad® digital templating software based on standing long-leg radiographs - mechanical lateral distal femoral angle (mLDFA) and mechanical medial proximal tibial angle (mMPTA). The rate of correction of each parameter was calculated as a function of the time lapse between the operation date and first radiographic evidence of full correction of the mechanical axis (zone 1). A total of 144 limb segments (80 distal femoral, 64 proximal tibial physes) were analysed. 62.5% of children had mechanical axes outside the knee joint at the time of operation; 63.2% achieved full correction. The rate of angular correction at the distal femur (mLDFA) was quickest in those with acquired growth disturbance (1.15°/month), complex genetic disorders (1.12°/month) and rickets (0.93°/month). It was slowest in those with vascular malformation (0.40°/month), lower extremity hypoplasia (0.44°/month) and metabolic disease (0.49°/month). At the proximal tibia, mMPTA correction was quickest in those with acquired growth disturbance (0.77°/month) and skeletal dysplasia (0.57°/month); whilst being slowest in those with metabolic disease (0.22°/month) and Blount's disease (0.29°/month). The rate of angular correction about the knee varies with the underlying pathology with correction rates varying up to 3-fold. This study demonstrated the differential rate of correction of angular deformities in children with different skeletal pathologies, which would help guide the timing of hemiepiphysiodesis


Orthopaedic Proceedings
Vol. 96-B, Issue SUPP_1 | Pages 2 - 2
1 Jan 2014
Ahmad M Acharya M Clarke A Fernandes J Jones S
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Aim. To determine the rate of recurrence of coronal plane deformity in children treated with ‘guided growth’ using 8-plates, from the time of implant removal to skeletal maturity. Methods. Over a consecutive 5 year period between April 2008 and April 2013 we analysed our results of guided growth treatment using 8-plates to correct coronal plane lower limb deformity. Patients with neuromuscular disorders such as cerebral palsy were excluded. Deformity planning was performed using standardised techniques. Our standard practice is to remove the 8-plate and screws once deformity is corrected both clinically and radiologically. Patients were followed up until either skeletal maturity or recurrence, which necessitated reapplication of the 8-plate. We are aware of no study in which children treated with guided growth using 8-plates are followed up to skeletal maturity. Results. 267 patients were treated with 8-plates in our unit over this 5 year period. Of the patients in whom deformity was corrected and had subsequent plates removed, we identified 41 patients who have either reached skeletal maturity or had recurrence of deformity. Six patients required reapplication of the 8-plates implant. These were young and had skeletal dysplasia. Deformity parameters were analysed both clinically and radiologically in patients who have reached skeletal maturity and showed no recurrence, which necessitated further intervention. Conclusion. A higher proportion of younger patients, especially a sub-group with skeletal dysplasia had recurrence of deformity necessitating reapplication of the 8-plate device. In this group we recommend removal of only the metaphyseal screw once deformity is corrected. This would allow ease of reapplication if recurrence were to reoccur. Level of evidence: III


Orthopaedic Proceedings
Vol. 95-B, Issue SUPP_3 | Pages 7 - 7
1 Jan 2013
Saldanha K Madan S Fernandes J Jones S
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Aim. To study the results of using recombinant human bone morphogenic protein-2 (rhBMP-2) to achieve bone union in children with complex orthopaedic problems including skeletal dysplasia, congenital limb deficiencies and complex trauma. Materials & Methods. Between November 2006 to April 2010, rhBMP-2 was used to achieve bone healing in a total of 19 children. The indications were delayed union or non-union in 16 long bones where previous surgeries had failed and 4 posterior spinal fusions. All children had underlying complex orthopaedic problems predisposing them to delayed bone healing. The average age at the time of surgery was 13 years and 8 months (Range: From 4 years to 19 years and 4 months). There were 7 boys and 12 girls. Results. Average follow-up period was 9.6 months (Range: From 3 months to 2 years and 2 months). Out of the 16 long bone non-unions treated with rhBMP-2, 13 united without further interventions but 3 required further intervention. The average time for clinical union was 10 weeks (Range: from 6 weeks to 18 weeks). The average time for radiological union was 15 weeks (Range: from 7 weeks to 27 weeks). Two children who underwent instrumented posterior spinal fusion and two children who underwent uninstrumented spinal fusion achieved radiologically evident spinal fusion at an average of 16 weeks. No local or systemic complications attributable to BMP were noted in any of the children. Conclusions. rhBMP-2 can be used successfully to achieve bone healing in long bone nonunion and delayed union and posterior spinal fusion in children with complex orthopaedic problems including skeletal dysplasia, congenital limb deficiencies and complex trauma. Its use in children has shown no unwanted effects in the short term. Significance. rhBMP-2 has been approved by Food and Drug Administration (FDA) as a bone graft substitute in adults. Its use in adults has been widely reported but there are only a few case reports of its use in children. This study shows that rhBMP-2 can be safely


Orthopaedic Proceedings
Vol. 100-B, Issue SUPP_8 | Pages 6 - 6
1 May 2018
Abdelhaq A Walker E Sanghrajka A
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Background. Disruption of the normal relationship between the proximal tibia and fibula is seen in a number of different conditions such as skeletal dysplasias and post-infective deformity, as well as the consequence of lengthening procedures. Radiographic indices for the tibio-fibular relationship at the ankle have been described, but no similar measures have been reported for the proximal articulation. Aim. The purpose of this study was to investigate the normal radiographic relationship between the proximal tibia and fibula in children to determine the normal range and variation. Methods. Our radiology database was used to identify a sample of 500 normal anteroposterior radiographs of paediatric knees. All radiographs were reviewed by a single observer. The distance from the corner of the lateral tibial plateau to both the proximal tibial (PT) and fibular physes (PF) were measured, and a ratio of the two calculated (PF/PT). The process was repeated with a sample of 100 radiographs by the same observer, and a second independent observer in order to calculate intra-and inter-observer reliability. Results. The age range of patients in this study was 4–16 years, with mean age 12.7. The mean PF/PT ratio was 1.7 (standard deviation 0.2, range 1.3–2.0). Intra-observer reliability was 100% and inter-observer reliability was 97.8%. Conclusion. The results of this study demonstrate that in the normal paediatric knee, there is a consistent relationship between the position of the proximal tibial and fibular physes, with a small range of variation. The PF/PT ratio is a simple and reliable way of assessing the relationship between the proximal tibia and fibula in children, using a standard anteroposterior radiograph. This ratio could be very useful in the diagnosis and planning of surgical management of a number of different causes of tibial and fibular deformities in children


Orthopaedic Proceedings
Vol. 98-B, Issue SUPP_16 | Pages 19 - 19
1 Oct 2016
Griffin M Annan J Hamilton D Simpson A
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3D imaging is commonly employed in the surgical planning and management of bony deformity. The advent of desktop 3D printing now allows rapid in-house production of specific anatomical models to facilitate surgical planning. The aim of this pilot study was to evaluate the feasibility of creating 3D printed models in a university hospital setting. For requested cases of interest, CT DICOM images on the local NHS Picture Archive System were anonymised and transferred. Images were then segmented into 3D models of the bones, cleaned to remove artefacts, and orientated for printing with preservation of the regions of interest. The models were printed in polylactic acid (PLA), a biodegradable thermoplastic, on the CubeX Duo 3D printer. PLA models were produced for 4 clinical cases; a complex forearm deformity as a result of malunited childhood fracture, a pelvic discontinuity with severe acetabular deficiency following explantation of an infected total hip replacement, a chronically dislocated radial head causing complex elbow deformity as a result of a severe skeletal dysplasia, and a preoperative model of a deficient proximal tibia as a result of a severe tibia fracture. The models materially influenced clinical decision making, surgical intervention planning and required equipment. In the case of forearm an articulating model was constructed allowing the site of impingement between radius and ulnar to be identified, an osteotomy was practiced on multiple models allowing elimination of the block to supination. This has not previously been described in literature. The acetabulum model allowed pre-contouring of a posterior column plate which was then sterilised and eliminated a time consuming intraoperative step. While once specialist and expensive, in house 3D printing is now economically viable and a helpful tool in the management of complex patients


Orthopaedic Proceedings
Vol. 98-B, Issue SUPP_11 | Pages 5 - 5
1 Jun 2016
Wilkinson J Hatzikotoulas K Clark M Shah K Eastwood D Zeggini E
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Introduction. Although DDH is one of the most common skeletal dysplasias (incidence 1.5 cases per 1000 births), it remains slow and costly to recruit large-scale patient cohorts for powerful genetic association studies. In this work we have successfully used the NJR as a platform to generate a DDH biobank of 907 individuals, upon which we have conducted the first ever genome-wide association study (GWAS) for DDH. Methods. 5411 patients recorded as having a hip replacement for ‘hip dysplasia’ between March 2003 and December 2013 were approached to participate in the study. Following filtering by questionnaire for non-DDH cases and non-European Caucasians, 907 patients returned a completed saliva sample. A randomly selected sample of individuals participating on the UK Household Longitudinal Study that had been previously genotyped using the same platform were used as controls at a case:control ratio of 1:4. A further data set consisting of 332 cases, 1375 controls and 26 variants was used to replicate the top signals. Results. Of 256833 variants that passed QC, 11 variants reached genome-wide significance. All these variants came from the same signal, with rs143384 as the index SNP (allele A, allele frequency 0.60, OR [95% CI] 1.58[1.40–1.77], P=1.1×10. −14. ). Twenty-six independent variants were prioritized to follow up through de novo replication. Variant rs143384 was found to be significantly associated with DDH after meta-analysing discovery and replication datasets (allele A, allele frequency 0.60, OR [95% CI] 1.50[1.36–1.66], P=2.81×10. −16. ). Discussion. Using eHR case-ascertainment and distance recruitment strategies we conducted the first GWAS for DDH and confirmed association of the GDF5 variant rs143384 with DDH (P=2.81×10. −16. ). We establish the first genome-wide significant locus for DDH, discovered through linking EHRs with genomics as a proof of principle in enabling powerful genetic association studies of relatively rare but complex diseases


Orthopaedic Proceedings
Vol. 91-B, Issue SUPP_II | Pages 214 - 214
1 May 2009
Lakdawala A Mauffery C Carpenter C Clegg J
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Introduction: Despite worldwide vaccination programmes Polio is still endemic in some developing countries. Numerous new cases of polio are seen every year in India resulting in significant childhood deformity. The Rotary Club funds voluntary camps aimed at correcting deformities in children. I was part of the surgical team in Jan 2007 led by Mr. J. Clegg. Clinical experience: Some 141 procedures were carried out in 3 days, 99 by SPR’s under senior supervision. The most frequent procedure was a supra-condylar femoral osteotomy, followed by hip and knee soft tissue releases. For more complex operations we assisted or observed. Some deformity corrections were for non-polio cases. Interesting cases in the OPD included skeletal dysplasias, rickets and congenital deformities. Conclusion: At the time where MMC restricts overseas training opportunities, I believe this type of mini-fellowship provides valuable experience. Training programmes should have such opportunities available to all trainees


Orthopaedic Proceedings
Vol. 88-B, Issue SUPP_I | Pages 14 - 14
1 Mar 2006
Silva C
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Congenital Hand Deformities are probably the most frequent cause of non-traumatic complaint in consultations on paediatric hand surgery. The incidence of occurrence is about 1 in 500 live births. Some of these abnormalities are minor and do not interfere with function. Many, however, have a significant functional and/or cosmetic deformity. Only a few congenital malformations have a regular single gene mode of transmission, most have an irregular and unpredictable pattern of inheritance; sometimes occurs as part of a malformation syndrome or skeletal dysplasia, or in a sporadic way. In fact, the cause for 40 to 50% of these anomalies is “unknown”. Themes like handling the patient and parents and the psychological effects of the anomaly, the general principles of treatment, timing of surgery and the principles of reconstructive surgery are discussed. The classification proposed by A.B. Swanson and revised with the assistance of the Congenital Anomalies Committee of the International Federation of Societies fo Surgery of the Hand will be used to propose the general guides of treatment. The most common anomalies will be approached in more detail and the option of treatment is discussed in base of experience of the author


Orthopaedic Proceedings
Vol. 94-B, Issue SUPP_VII | Pages 10 - 10
1 Mar 2012
de Gheldere A Calder P Bradish C Eastwood D
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Purpose. To document the incidence and nature of complications associated with hemiepiphysiodesis using a screw and plate device (8-plate, Orthofix). Methods. We reviewed case notes and radiographs of 71 children (130 segments) with lower limb deformities treated with temporary hemiepiphyseal arrest using the 8-plate. 96% of deformities were in the coronal plane, 4% sagittal. 72% of coronal deformities demonstrated valgus malalignment. We defined three types of complications:. early (perioperative) complications eg infection and/or wound breakdown, bleeding, neurological impairment. implant related complications such as soft tissue irritation, plate breakage or migration,. complications involving the growth plate including rebound deformity, early physeal closure or iatrogenic deformity. Complications were related to variables of patient age, gender, diagnosis, location of deformity and associated surgery. Results. The average age at surgery was 10 years (range 3-16). There were 41 boys, 30 girls. 3/70 patients were treated for an idiopathic deformity: the remainder were affected by a wide range of pathologies (20% skeletal dysplasia, 20% metabolic bone disease). Full correction has occurred in 38% of patients. The remaining 45 children are all showing improvement in their deformity. 10 patients (14%) have had a complication: 3 patients had early complications (wound infection, wound breakdown and intra-operative hypotensive crisis) and 2 patients have had implant related complications (irritation and migration). In a further 5 patients there have been physis related problems: 1 over-correction, 1 recurrence and 3 cases in which the timing of the procedure or the ill-health of the physis did not allow correction to occur. Conclusion. The 8-plate is an effective device in the management of deformity secondary to pathological conditions. 10% of patients had complications: the majority were minor but care should be taken regarding the timing of the procedure related to the growth potential of the pathological physis


Orthopaedic Proceedings
Vol. 93-B, Issue SUPP_I | Pages 24 - 24
1 Jan 2011
Karantana A Suri M Howell C Pace A Dhar S
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This is a case series of 25 patients with Multiple Epiphyseal Dysplasia (MED), a genetically determined disorder characterised by abnormal ossification of multiple epiphyses. The Nottingham Skeletal Dysplasia Clinic has run since 1966. In 1994 it combined with the Clinical Genetics Service providing care to patients from throughout the region. We collected data on MED patients with follow up of 1 to 41 years (average 12 years) and described their presenting symptoms, genetic, clinical and radiographic features. We followed the natural history and vast array of treatments. From the genetic point of view, 90% of patients counselled had typical AD-MED and 10% syndromic MED. Seven families opted to have testing. There were MATN3 mutations in 10% of the cohort, with marked intra-familial variability of phenotype. The average age at presentation was thirteen, with 80% of patients presenting before their sixteenth birthday. A third was seen because of a known family history of MED. Newly diagnosed index patients tended to present later. The most commonly affected joint at presentation was the hip and the most common knee deformity genu valgum. Symptoms progressed with time and joints not clinically affected at presentation became symptomatic later. Sixty percent of patients had further joint involvement within 10 years of diagnosis. Treatment ranged from orthotics to arthroplasty. Half of patients required surgical intervention at least once. Six patients underwent hip arthroplasty at an average age of 37. MED is a rare diagnosis but has significant impact on the quality of life of those diagnosed, who require the support of a multidisciplinary team from an early age. This is not only to help manage symptoms and preserve function, but also to counsel on the progressive nature and the genetic aspects of the disorder


Orthopaedic Proceedings
Vol. 94-B, Issue SUPP_XXIV | Pages 11 - 11
1 May 2012
Siddiqui N Malaga-Shaw O Eastwood D
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Purpose. To define the orthopaedic problems associated with pseudoachondroplasia (PSACH) and their functional impact. Methods. We reviewed the medical records of 12 consecutive patients presenting to our unit. Radiographic analysis of deformity included assessment of mechanical axis and dysplasia at hip, knee and ankle measured by acetabular index (AI), Reimer's migration percentage (MP), neck-shaft angle, distal lateral femoral (aDFLA) and proximal (mMPTA) and distal tibial angles. The paediatric/adolescent PODCI questionnaires and the SF36 were used to assess quality of life issues. Results. 12 patients (9 female) were reviewed at median age 18yrs (range 12-43yrs). Most symptoms related to walking tolerance, joint discomfort and deformity: 9 patients had genu varum, 7 tibial torsion, 2 patella instability and 3 significant low back pain. All patients had hip dysplasia. 10 had medial displacement of the mechanical axis, with a mean mDFLA 105 deg (88 -128) and mMPTA 75deg (51-90). 2 patients have been treated only with growth hormone; 10 patients have undergone a total of 9 distal femoral, 19 proximal tibial and 2 supramalleolar osteotomies. 6 procedures were performed using an external fixator. 7 limb segments have been treated by guided growth and in all these cases alignment has improved. One patient has had bilateral hip arthroplasties (age 29), a second patient has had bilateral patellectomies. These 10 patients have undergone a mean 3.8 operative procedures on a mean 2.4 occasions. Patients scored less well than their peer groups in all domains of the PODCI assessment. All have maintained some independent mobility. Conclusions. PSACH is a severe skeletal dysplasia with deformity at all levels of the lower limb affecting patient satisfaction and quality of life. Knee deformities are those which most frequently require surgical intervention. Significance. The genetic defect in PSACH differs from that in achondroplasia, joint degeneration is more common and maintenance of limb alignment is essential


Bone & Joint Open
Vol. 5, Issue 10 | Pages 879 - 885
14 Oct 2024
Moore J van de Graaf VA Wood JA Humburg P Colyn W Bellemans J Chen DB MacDessi SJ

Aims

This study examined windswept deformity (WSD) of the knee, comparing prevalence and contributing factors in healthy and osteoarthritic (OA) cohorts.

Methods

A case-control radiological study was undertaken comparing 500 healthy knees (250 adults) with a consecutive sample of 710 OA knees (355 adults) undergoing bilateral total knee arthroplasty. The mechanical hip-knee-ankle angle (mHKA), medial proximal tibial angle (MPTA), and lateral distal femoral angle (LDFA) were determined for each knee, and the arithmetic hip-knee-ankle angle (aHKA), joint line obliquity, and Coronal Plane Alignment of the Knee (CPAK) types were calculated. WSD was defined as a varus mHKA of < -2° in one limb and a valgus mHKA of > 2° in the contralateral limb. The primary outcome was the proportional difference in WSD prevalence between healthy and OA groups. Secondary outcomes were the proportional difference in WSD prevalence between constitutional varus and valgus CPAK types, and to explore associations between predefined variables and WSD within the OA group.


Orthopaedic Proceedings
Vol. 87-B, Issue SUPP_II | Pages 101 - 101
1 Apr 2005
Fassier F Duval P Dujovne A
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Purpose: The use of telescopic nails has enabled a reduction in the rate of re-operation during growth from 51% observed with non-telescopic nails to 27%. This difference is less pronounced in the long term due to mechanical complications and secondary joint problems. We report our experience with the telescopic nail developed for osteogenesis imperfecta of the femur. This nail is inserted antegrade via a small superior incision, avoiding the problems associated with surgical approach via the knee joint. The distal and proximal fixation are achieved by screwing the nail into the epiphysis. Material and methods: The telescopic nail was used for 43 femurs and 1 humerus in 29 children (osteogenesis imperfecta in 28, skeletal dysplasia in 1) who were reviewed at a mean 34 months. Mean age at surgery was 47 months (range 13 months – 11 years). Results: The telescopic nail deployed normally in 93.2% of the children. Complications not requiring re-operation were observed in 20.5% of the patients: migration of the proximal part of the nail (n=3), material deformation or stress fracture (n=4), loss of distal epiphyseal fixation (n=1). Surgery was required because of complications in three children: intra-articular protrusion of the male part of the nail requiring repositioning, proximal migration of the female part of the nail into the buttocks subsequent to weight-bearing too early, and loss of distal epiphyseal fixation due to inappropriate intra-operative manipulation. Discussion: These early results (follow-up less than three years) demonstrate that this new implant is useful in osteogenesis imperfecta. It enables minimally invasive treatment and reduces the rate of complications without the risk of knee arthrotomy


Bone & Joint Open
Vol. 5, Issue 10 | Pages 858 - 867
11 Oct 2024
Yamate S Hamai S Konishi T Nakao Y Kawahara S Hara D Motomura G Nakashima Y

Aims

The aim of this study was to evaluate the suitability of the tapered cone stem in total hip arthroplasty (THA) in patients with excessive femoral anteversion and after femoral osteotomy.

Methods

We included patients who underwent THA using Wagner Cone due to proximal femur anatomical abnormalities between August 2014 and January 2019 at a single institution. We investigated implant survival time using the endpoint of dislocation and revision, and compared the prevalence of prosthetic impingements between the Wagner Cone, a tapered cone stem, and the Taperloc, a tapered wedge stem, through simulation. We also collected Oxford Hip Score (OHS), visual analogue scale (VAS) satisfaction, and VAS pain by postal survey in August 2023 and explored variables associated with those scores.


Bone & Joint Open
Vol. 5, Issue 4 | Pages 304 - 311
15 Apr 2024
Galloway R Monnington K Moss R Donaldson J Skinner J McCulloch R

Aims

Young adults undergoing total hip arthroplasty (THA) largely have different indications for surgery, preoperative function, and postoperative goals compared to a standard patient group. The aim of our study was to describe young adult THA preoperative function and quality of life, and to assess postoperative satisfaction and compare this with functional outcome measures.

Methods

A retrospective cohort analysis of young adults (aged < 50 years) undergoing THA between May 2018 and May 2023 in a single tertiary centre was undertaken. Median follow-up was 31 months (12 to 61). Oxford Hip Score (OHS) and focus group-designed questionnaires were distributed. Searches identified 244 cases in 225 patients. Those aged aged under 30 years represented 22.7% of the cohort. Developmental dysplasia of the hip (50; 45.5%) and Perthes’ disease (15; 13.6%) were the commonest indications for THA.