Objectives

To determine the pattern of mutations of the WISP3 gene in clinically identified progressive pseudorheumatoid dysplasia (PPD) in an Indian population.

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

Introduction and Aims: Genetic defects causing dwarfism occur in approximately one in 10,000 live births. There are over 200 types, with achondoplasia, spondyloepiphyseal dysplasia, diastrophic dwarfism and hypopituitarism being the most common. Another frequent cause of short stature is juvenile rheumatoid arthritis. Most types of dwarfism result in arthrosis of major joints, resulting in significant disability. Hip replacement can offer significant improvement in quality of life, but there are inherent difficulties due to size and anatomic variations. Method: Short stature of less than 4 feet 10 inches was defined as dwarfism. Eight patients meeting this criterion underwent total hip replacement, either primary or revision, with six being bilateral, resulting in a total of 14 hips for study. The diagnoses were: two JRA, two Mucolipdosis III, one Dyastrophic Dwarfism, one Spondyloepiphyseal Dysplasia, one Thalasemia, and one Congenital Rickets. In each case, a CT-based custom cementless femoral component was used. The patients were followed prospectively with the Harris hip scale and serial radiographs. Average follow-up was nine years (two to 14). Results: The average total Harris hip score improved from 35 pre-operatively to 66 at last follow-up, with the average Harris pain score increasing from 10 to 31 (out of a maximum of 44). Five hips have been reoperated: two for combined acetabular and femoral loosening, one for acetabular loosening, one for recurrent dislocation and one for late hematogenous infection. Conclusions: Hip replacement in dwarfs presents a complex technical challenge, but can result in significant improvement in pain, function and quality of life. CT-based custom femoral components are recommended

Aims. We investigated the long-term performance of the Tripolar Trident acetabular component used for recurrent dislocation in revision total hip arthroplasty. We assessed: 1) rate of re-dislocation; 2) incidence of complications requiring re-operation; and 3) Western Ontario and McMaster Universities osteoarthritis index (WOMAC) pain and functional scores. Patients and Methods. We retrospectively identified 111 patients who had 113 revision tripolar constrained liners between 1994 and 2008. All patients had undergone revision hip arthroplasty before the constrained liner was used: 13 after the first revision, 17 after the second, 38 after the third, and 45 after more than three revisions. A total of 75 hips (73 patients) were treated with Tripolar liners due to recurrent instability with abductor deficiency, In addition, six patients had associated cerebral palsy, four had poliomyelitis, two had multiple sclerosis, two had spina bifida, two had spondyloepiphyseal dysplasia, one had previous reversal of an arthrodesis, and 21 had proximal femoral replacements. The mean age of patients at time of Tripolar insertions was 72 years (53 to 89); there were 69 female patients (two bilateral) and 42 male patients. All patients were followed up for a mean of 15 years (10 to 24). Overall, 55 patients (57 hips) died between April 2011 and February 2018, at a mean of 167 months (122 to 217) following their tripolar liner implantation. We extracted demographics, implant data, rate of dislocations, and incidence of other complications. Results. At ten years, the Kaplan–Meier survivorship for dislocation was 95.6% (95% confidence interval (CI) 90 to 98), with 101 patients at risk. At 20 years, the survivorship for dislocation was 90.6% (95% CI 81.0 to 95.5), with one patient at risk. Eight patients (7.2%) had a dislocation of their constrained liners. At ten years, the survival to any event was 89.4% (95% CI 82 to 93.8), with 96 patients at risk. At 20 years, the survival to any event was 82.5% (95% CI 71.9 to 89.3), with one patient at risk. Five hips (4.4%) had deep infection. Two patients (1.8%) developed dissociated constraining rings with pain but without dislocation, which required re-operation. Two patients (1.8%) had periprosthetic femoral fractures, without dislocation, that were treated by revision stems along with exchange of the well-functioning constrained liners. Conclusion. Constrained tripolar liners used at revision hip arthroplasty provided favourable results in the long term for treatment of recurrent dislocation and for patients at high risk of dislocation. Cite this article: Bone Joint J 2019;101-B(6 Supple B):123–126

STUDY DESIGN. Retrospective study of 8 children treated with vertical expandable prosthetic titanium rib (VEPTR) for correction of early onset spinal scoliotic deformities. METHODS. 8 children with progressive scoliosis due to a variety of conditions, 6 congenital (2 Goldenhar syndrome, 2 VACTERL syndrome, 2 congenital thoracic abnormalities), 1 spondyloepiphyseal dysplasia, 1 early onset of scoliosis, underwent the index procedure and subsequent lengthening procedures at 6 months intervals (1 patient had 11 lengthening procedures). Mean age was 4 years (2-6 years) and mean follow up 3.8 years (2-6 years). Mean preoperative Cobb angle was 64,8° (51-108) and mean postoperative angle 40° (31-50). RESULTS. There were no neurological complications. Three patients developed infection with wound breakdown. One patient underwent removal of one of the two VEPTR rods. In the other two patients the rods were removed followed by antibiotics and the VEPTR converted to another growing rod system. Overall, patients tolerated the multiple procedures well. Three patients experienced significant distress with multiple surgical procedures. CONCLUSION. VEPTR offers a viable treatment option for children with severe congenital and early onset scoliosis where there are no viable alternatives. It achieves and maintains spinal deformity correction, while allowing for continued spine and chest-wall growth. Complication rate is acceptable in view of the benefits. None of the complications have lead to long term complications to date, but the repeated lengthening have resulted in psychological disturbance which we are investigating further. An implantable driver would offer very significant advantages and would avoid some of the repeated operations

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

Introduction: The efficacy and complications of the transarticular screw procedure have been reported by many authors. However, few have reported this procedure for child younger than 10 years old. We have treated two children for atlantoaxial subluxation with transarticular screws, using a soft collar without a halo-vest, and have achieved bone union in good reduced position. Methods/results. Case 1: a 5-year-old boy with mental retardation and cerebellar infarction due to an insufficiency of the vertebral artery resulting in severe atlantoaxial instability. He presented with a high degree of congenital atlantoaxial subluxation complicated by Os odontoideum. He has been treated with transarticular screw and iliac bone graft by Brooks procedure. Case 2: an 8-year-old boy with congenital spondyloepiphyseal dysplasia and a right valgus knee. He, too, presented with a high degree of congenital atlantoaxial subluxation complicated by Os odontoideum, and has been treated with transarticular screw and iliac bone graft by Brooks procedure. In both cases, we used two half-thread cortical screws with a diameter of 2.7mm and a length of 30mm for the transarticular screw procedure. Discussion/conclusion: Rigid external fixation was obtained by Halo-vest. This method, however, would be expected to cause mental stress for the child patient and the family. More rigid internal fixation would be required to resolve this problem. More rigid internal fixation can be obtained with the transarticular screw, and postoperative orthosis can be performed easily, without the need for a Halo-vest

Genetic defects causing dwarfism occur in approximately 1 in 10 000 live births. There are over 200 types. Another frequent cause of short stature is juvenile rheumatoid arthritis. Most types of dwarfism result in arthrosis of major joints resulting in significant disability. Hip replacement can offer significant improvement in quality of life, but there are inherent difficulties due to size and anatomic variations. Short stature of less than 4 feet 10 inches was defined as dwarfism. Eight patients meeting this criterion underwent either primary or revision total hip replacement, with six being bilateral, resulting in a total of 14 hips for study (six primaries and eight revisions). The diagnoses were: two JRA, two Mucolipdosis III, one Dyastrophic Dwarfism, one Spondyloepiphyseal Dysplasia, one Thalasemia, and one Congenital Rickets. In eight hips a CT-based custom cementless femoral component was used. Average follow-up was nine years (2 – 14). The average Total Harris Hip Score improved from 35 pre-operatively to 66 at last follow-up, with the average Harris Pain Score increasing from 10 to 31 (out of a maximum of 44). Of the six primary hips, two hips in the same patient have been revised for combined acetabular and femoral loosening. Of the eight revision hips, there have been three re-operations: one re-revised for acetabular loosening, one re-revised for late hematogenous infection and one head/liner change for recurrent dislocations. Hip replacement in dwarfs presents a complex technical challenge, but can result in significant improvement in pain, function and quality of life. CT-base custom femoral components are recommended

Purpose. The correction obtained in the coronal plane knee deformity using guided growth was assessed in children with sick physes (Height<1SD of the normal children) to define the limits of this technique in sick physis. Methods. We retrospectively assessed deformity correction following guided growth using 8 plates in children with coronal plane deformity and metabolically abnormal physis- renal rickets in 6 and bone dysplasias (multiple epiphyseal dyspasia, spondyloepiphyseal dysplasia, metaphyseal dysplasia, mesomelic dysplasia, chondrodysplasia punctata) in 10 children aged 2 to 14 years. Lateral distal femoral angle(LDFA) and medial proximal tibia(MPTA) angles were serially assessed after eight plate application as a day care procedure. We noted correction achieved rate of correction, complications and additional surgical procedures. Fischer's exact test and multiple regression analysis was done to assess the effect of modifiers. Results. Sixteen children mean aged 7.8 years (2–14 years) with 9 boys and seven girls were followed for a mean of 16.125 months. Deviations from normal MPTA(n=6) were a mean of 11.82(range 8.4–16.9) and from normal LDFA(n=15) a mean of 13.96 (range 5.7–35.1). Mean rate of correction was 0.8°(range 0.1–2.65) per month in dysplasia group and 1.09°(range 0.5–1.6)per month. Complete correction was achieved in 2 out of 6 in renal and 4 out of 10 in dysplasia group. Complication included backing out of screw (1), suboptimal screw placement (2) in dysplasia group and stiffness of the knee (1). Multiple regression analysis found sex, severity of deformity >15° and duration of follow up to be not significant, however, age less than 6 years had a significantly higher chance of deformity correction(P=0.001). Conclusion. The rate of deformity correction with eight plates for guided growth is very variable even within the same patient in dysplasia group, chondrodyspalsia and SED having very slow correction rates. The deformities however correct completely before the age of 6 years irrespective of etiology. Bone dysplasias and metabolic causes require further study to understand their growth pattern and possibilities of relapse

Purpose: Use of six-axis analysis and computer assisted deformity correction via a circular external fixator is a new method for deformity correction. We investigated its accuracy and safety in reconstruction of femoral deformity in children and young adults. Method: We retrospectively reviewed all cases including the indications for use and the methodology of application of the computer assisted six-axis analysis and circular external fixator for reconstruction of 22 femora in 20 patients. Twelve patients were female, and 8 were male. The average age was 13.9 (range, 5.9–24.6). Etiology included traumatic (7), idiopathic (6), multiple enchondromatosis (2), rickets (2), congenital femoral deficiency (2), spondyloepiphyseal dysplasia (1), congenital pseudohypoparathyroidisim (1), and multifocal osteomyelitis (1). Clinical and radiographic data were analyzed. Results: Average follow-up was 14.4 months (range, 4.5–32). Average time in frame was 6.2 months (range, 2.6–19). Bone lengthening of 3.9 cm (range, 1–8.5) was performed in 12 femora. In genu valgum patients, the mLDFA improved from a mean of 73.7° to a mean of 89°. In genu varum patients, the mLDFA improved from a mean of 99.8° to a mean of 89.5°. Complications included pin tract infection in 6, knee stiffness in 3, delayed union in 2, skin irritation in 1, posterior knee subluxation in 2, both of which had stable knees preoperatively. One patient was lost to follow-up and returned back with deformity. No complications occurred in 8 patients. Conclusion: Computer assisted femoral deformity correction with six-axis analysis and application of circular external fixator is a useful technique with the advantage of managing multiplanar deformities in children and young adults. It has the potential complications of the use of any external fixator. Close follow-up is necessary to avoid subluxation of the knee joint even in patients with stable knees. Accurate and safe correction can be achieved in almost all patients

To evaluate the correction of complex congenital deformities of the lower limb by six axes deformity analyses and computer assisted correction using the Taylor TM Spatial Frame (TSF), from 1998 to 2000, the authors performed corrections of multiple congenital deformities in 24 lower limbs in 18 patients. There were 9 males and 9 females. There were a total of 29 bone segments, (8 femurs, 21 tibiae) in the 24 lower limbs that were corrected with application of the TSF. Our series included the following diagnoses and deformities: unknown skeletal dysplasia (2), achondroplasia (3), pseudoa-chondroplasia (1), multiple epiphyseal dysplasia (2), spondyloepiphyseal dysplasia (2), fibular hemimelia (3) tibia hemimelia (1), hypophosphatemic rickets (3), and posteromedial bowed tibia (1). The mean age of the patients was 15.4 years (range 0.5 to 35 years). The mean frame time until correction was 20.1 weeks (range 9 to 49 weeks). The mean follow up was 2.4 years (range 2 to 3.4 years). The apex of the deformity was directed posteromedial in 7, anterolateral in 6, medial in 5 and anteromedial in 5 patients. The mean coronal and sagittal plane deformities were 14.60 (range −230 to 400) and 70 (range, −400 to 280), respectively. The average magnitude of the deformity was 21.70 (range 90 to 470), and the plane of the deformity to the coronal plane was −23.30 (range −800 to 400). Eight patients had a mean lower extremity shortening of 12.3 mm (range 5 to 50 mm). One patient had 15° of internal rotation. With application of the TSF and the principles of distraction osteogenesis, we were able to reduce the coronal and sagittal plane deformities to 3.10 and 1.40 respectively. The overall mean magnitude of the deformity was decreased to 3.40. Shortening was corrected to an average of 3 mm. We experienced only 4 complications in the 24 limbs (16.7%). Complications in this patient group included one female patient with hypophosphatemic rickets who had residual deformity with significant lateral mechanical axis deviation due to inadequate translation. In addition, there were two superficial pin tract infections and one delayed union. Computer-assisted six axes deformity planning and TaylorTM Spatial Frame application effectively and safely correct complex congenital and developmental limb deformities and offer significant advantages over the well-established Ilizarov technique

Aims

The aim of this study was to compare outcomes after growth-friendly treatment for early-onset scoliosis (EOS) between patients with skeletal dysplasias versus those with other syndromes.

Aims

This study aimed to evaluate the relationship between hip shape and mid-term function in Perthes’ disease. It also explored whether the modified three-group Stulberg classification can offer similar prognostic information to the five-group system.

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The aim of this study was to compare the surgical and quality-of-life outcomes of children with skeletal dysplasia to those in children with idiopathic early-onset scoliosis (EOS) undergoing growth-friendly management.

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

Aims

The Patient-Reported Outcomes Measurement Information System (PROMIS) has demonstrated faster administration, lower burden of data capture and reduced floor and ceiling effects compared to traditional Patient Reported Outcomes Measurements (PROMs). We investigated the suitability of PROMIS Mobility score in assessing physical function in the sequelae of childhood hip disease.

Aims

The aim of this study was to present the first retrieval analysis findings of PRECICE STRYDE intermedullary nails removed from patients, providing useful information in the post-market surveillance of these recently introduced devices.

Aims

Computer hexapod assisted orthopaedic surgery (CHAOS), is a method to achieve the intra-operative correction of long bone deformities using a hexapod external fixator before definitive internal fixation with minimally invasive stabilisation techniques.

The aims of this study were to determine the reliability of this method in a consecutive case series of patients undergoing femoral deformity correction, with a minimum six-month follow-up, to assess the complications and to define the ideal group of patients for whom this treatment is appropriate.

We compared the complications and outcome of tibial lengthening using the Ilizarov method with and without the use of a supplementary intramedullary nail. In a retrospective case-matched series assembled from 176 patients with tibial lengthening, we matched 52 patients (26 pairs, group A with nail and group B without) according to the following criteria in order of importance: 1) difference in amount of lengthening (± 2 cm); 2) percentage difference in lengthening (± 5%); 3) difference in patient’s age (± seven years); 4) aetiology of the shortening, and 5) level of difficulty in obtaining the correction. The outcome was evaluated using the external fixator index, the healing index and an outcome score according to the criteria of Paley. It was found that some complications were specific to group A or B respectively, but others were common to both groups.

The outcome was generally better in lengthenings with a nail, although there was a higher incidence of rectifiable equinus deformity in these patients.