MRI quantitative muscle characterization in children with X-linked hypophosphatemia.

INTRODUCTION: Children with X Linked Hypophosphatemia (XLH) suffer from carential ricket, bone deformities and lameness. No previous study demonstrated a morphological distinction in muscles in these patients. The aim of this prospective study was to characterize, using Magnetic Resonance Imaging (MRI), the muscle morphology of pelvis, thigh and leg in children with XLH and to compare it with typically developed (TD) children. HYPOTHESIS: We hypothesized that lower limbs muscles in children with XLH are different from TD children and could explain limp walking. MATERIAL AND METHODS: Three-dimensional reconstructions of the muscles were performed in 11 patients with XLH and 15 TD children. Muscle lengths, sections and volumes were calculated and normalized with height and weight. Mean age was 10. RESULTS: Lengths were all smaller in children with XLH except for the Medius/minimus gluteus muscles (p=0.64). The difference seemed higher in muscles with a long tendinous part as semitendinosus (0.139 vs 0,164; p<0.01). All volumes were significantly inferior in children with XLH. This preliminary study showed significant differences in muscle structures between patients with XLH and TD children. DISCUSSION: Medius/minimus gluteus seemed to be particularly developed in children with XLH. Nevertheless it is not possible to conclude if it is related to XLH or a consequence of bone deformities. LEVEL OF PROOF: IV.

Bone allografting: an original method for biological osteosynthesis and bone reinforcement in children with osteogenesis imperfecta.

PURPOSE: Osteogenesis imperfecta (OI) is a genetic disorder responsible for various symptoms including deformities and frequent fractures. Bone allografting is poorly documented in this condition. The objective of this study was to describe our experience and assessments in a consecutive series of OI patients. METHODS: Thirty-nine lower limb allograft procedures (28 femurs, 11 tibias) were performed in 26OI patients (mean age, 12.9 years). They were classified as type III of Sillence (17), type IV (6), and 3 recessive forms. The indications for surgery were correction of deformity (19), fracture (16), and non-union (4). In all cases, bone allografting was added to reinforce areas of fragility and in 28 cases for osteosynthesis to lock the rotations at the osteotomy site and to avoid screwed metallic plate. The duration of bone consolidation and allograft fusion was assessed. Complications and Gillette functional score were reported. RESULTS: The mean follow-up was 6.7years (range, 2 to 10 years). On average, bone consolidation was achieved after 3.3 months and graft fusion after 7.7 months. No bone allograft-related complications were observed and there was any secondary displacement. The Gillette functional score was improved in 23 patients and stable in three cases. Complications were reported in two cases: one partial allograft resorption and one delayed consolidation of a non-union. One refracture was observed but after a significant trauma in a child who had regained significant physical activity. CONCLUSIONS: Bone allografting in children with OI is a reliable method of biological fixation, allowing efficient fusion and contributing to increased bone capital and functional outcome.

Combined gait analysis and radiologic examination in children with X-linked hypophosphatemia.

BACKGROUND: X-linked hypophosphataemia causes bone deformities and gait abnormalities that tend to worsen with age in the absence of appropriate treatment. However, doctors do not currently use quantitative tools to characterize these symptoms and their possible interactions. METHODS: Radiographs and 3D gait data from 43 non-surgical growing children with X-linked hypophosphataemia were acquired prospectively. Data from age-matched typically developing children were used to form the reference group. Subgroups based on radiological parameters were compared with each other and with the reference population. Linear correlations between radiographic parameters and gait variables were examined. FINDING: X-linked hypophosphatemic patients differed from the control group in pelvic tilt, ankle plantarflexion, knee flexion moment and power. High correlations with tibiofemoral angle were found for trunk lean, knee and hip adduction, and knee abduction moment. The Gait Deviation Index was below 80 for 88% of the patients with a high tibiofemoral angle (varus). Compared to other subgroups, varus patients had augmented trunk lean (+3°) and knee adduction (+10°) and decreased hip adduction (-5°) and ankle plantarflexion (-6°). Femoral torsion was associated with alterations in rotation at the knee, and hip. INTERPRETATION: Gait abnormalities induced in X-linked hypophosphataemia have been described in a large cohort of children. Links between gait alterations and lower limb deformities were found, with varus deformities standing out. Since bony deformities appear when X-linked hypophosphatemic children start walking and have been found to alter gait patterns, we suggest that combining radiology with gait analysis may improve the clinical management of X-linked hypophosphataemia.

Radiographic evaluation of ulnar deformity in patients with hereditary multiple osteochondroma and its relationship with radial head dislocation.

INTRODUCTION: In patients who have hereditary multiple osteochondroma (HMO), progressive deformity of the forearm skeleton may lead to radial head dislocation. The latter is permanent, painful and causes weakness. HYPOTHESIS: There is a relationship between the amount of ulnar deformity and the presence of radial head dislocation in patients with HMO. MATERIALS AND METHODS: This was a cross-sectional radiographic study comprising an analysis of anterior-posterior (AP) and lateral x-rays of 110 forearms in children having a mean age of 8 years and 4 months who were followed for HMO between 1961 and 2014. Four factors reflecting on the ulnar deformity in the coronal plane were investigated on the AP view and three factors in the sagittal plane were investigated on the lateral view to identify any relationship between ulnar deformity and radial head dislocation. The forearms were separated into two groups: with radial head dislocation (26 cases) and without radial head dislocation (84 cases). RESULTS: Ulnar bowing, intramedullary angle of ulnar bowing, tangent ulnar angle and overall ulnar angle were significantly higher in the group of children who had a radial head dislocation (0.05 vs 0.03, p<.001; 161 vs 167, p<001; 156 vs 162, p<001; 50 vs 30, p<.001) in univariate and multivariate analyses. DISCUSSION: Ulnar deformity, evaluated using the method described here, is more often associated with radial head dislocation than other previously published radiological parameters. This provides new insight on this phenomenon and may help to determine which factors are associated with radial head dislocation and how to prevent it. CONCLUSION: Ulnar bowing in the context of HMO, especially when evaluated on AP radiographs, is significantly associated with radial head dislocation. LEVEL OF EVIDENCE: III; case-control study.

Quantitative analysis of lower limb and pelvic deformities in children with X-linked hypophosphatemic rickets.

INTRODUCTION: X-linked hypophosphatemia (XLH) rickets mainly causes leg deformities in children that can worsen as they grow. We hypothesized that quantifying the bone parameters will help to document and monitor these deformities in children with XLH. METHODS: Thirty-five growing children affected by XLH were included in this cross-sectional study. Biplanar radiographs were taken with an EOS system allowing three-dimensional (3D) reconstructions of the pelvis and legs. Sixteen geometric parameters were calculated for the legs and pelvis. A control group of 40 age-matched patients was used to define the reference values for these geometric parameters. RESULTS: For the legs, significant differences (p<0.05) appeared between the XLH patients and the control group in the neck-shaft angle, femur/tibia length ratio and HKS. Among the 70 legs in the XLH group, 23 were in genu varum, 25 were in genu valgum and 22 were straight. There were significant differences between the genu varum and genu valgum subgroups in the femoral mechanical angle and the HKS. A strong correlation was found between the femoral mechanical angle and femorotibial angle (r2=0.73) and between the femoral mechanical angle and HKS (r2=0.69) The sacral slope and acetabular anteversion were significant different from the reference values. DISCUSSION: Quantitative radiological parameters derived from 3D reconstructions show that the deformities in XLH patients are (1) mainly in - but not limited to - the femoral shaft; (2) highly variable from one person to another. Some of these radiological parameters may be useful for the diagnosis and monitoring of XLH patients. LEVEL OF EVIDENCE: III; case control study.

Well though-out introduction of percutaneous Achilles tenotomy during functional treatment of congenital talipes equinovarus: Which indications produce the best results?

INTRODUCTION: Percutaneous Achilles tenotomy (PAT) was recently added to functional treatment of congenital talipes equinovarus (aka clubfoot). The aim of this study was to determine the relevance of a carefully chosen radiological criterion for the PAT indication and to evaluate its results. HYPOTHESIS: When the tibiocalcaneal angle (aTiCa) is larger than 75° at 4 months, doing PAT will improve the results of the functional method in the medium term and will reduce the surgery rate. PATIENTS AND METHODS: This prospective study involved 101 patients (151 feet) born between 2011 and 2014 with clubfoot who were treated with the French functional method and had at least 4 years' follow-up. The initial severity of the deformity was evaluated using the Diméglio scoring system. In our sample, 30 feet had a Diméglio rating of II (20%), 61 had a Diméglio rating of III (40%) and 60 feet had a Diméglio rating of IV (40%). The indication for PAT was made at 4 months of age when the aTiCa on a lateral radiograph of the foot in maximum correction was greater than 75°. The mean follow-up was 5 years. The final assessment was done using the modified Ghanem and Seringe classification. RESULTS: In the entire cohort, PAT was done in 113 feet (75%). None of the feet required a repeat PAT. Surgical release of the soft tissues was done in 20 feet (13%). None of the feet developed a rocker bottom deformity. Two feet were operated in the absence PAT (out of 38 in this subgroup) and 18 feet after PAT (out of 113 in this subgroup). The aTiCa angle did not vary in the PAT group based on whether surgical release was indicated afterwards or not. At the final assessment, 140 feet (93%) were classified as very good and 11 feet (7%) as good. DISCUSSION: The tibiocalcaneal angle is a relevant radiological criterion for the PAT indication in children with clubfoot. PAT has a positive impact on the outcomes. LEVEL OF EVIDENCE: II; prospective study.

Prospective Analysis of Muscle Adiposity in Children With X-linked Hypophosphatemic Rickets vs Control Children.

Context: Children with X-linked hypophosphatemic (XLH) rickets have muscle weakness that severely impairs their function. Intermuscular and intramuscular adipose tissue (IMAT and intraMAT, respectively) may contribute to this muscle weakness. Objective: This work aimed to compare IMAT and intraMAT in XLH children vs typically developing (TD) children. Methods: A prospective, monocentric cohort study was conducted of XLH (n = 11; aged 10.3 years [6-17]) and TD children (n = 22; aged 10.2 years [5-15.5]). All children underwent magnetic resonance imaging of the lower limbs; IMAT and intraMAT percentages were calculated after manual contouring of each muscle of the thigh and the deep fascia at mid-thigh level. Results: XLH children were comparable in age but shorter and heavier than TD children (P = .001 and P = .03, respectively). They had smaller muscle length and volume than TD children (P < .001) but there was no statistically significant difference in muscle cross-sectional area between the groups (P = .833). The total percentage of IMAT was higher in XLH children (8.66% vs 3.60% in TD children; P < .0001). In addition, though the total percentage of intraMAT did not differ significantly (12.58% and 10.85% in XLH and TD children, respectively; P = .143) intraMAT was statistically significantly higher in XLH children than TD children in 4 of the 13 muscles studied. Conclusion: Our results show that IMAT is higher in young children with XLH, independently of obesity and overweight. Further, these results will facilitate both the early prevention of functional and metabolic consequences of the increase in adipose tissue in XLH children.

Tibial Sliding Elastic Nailing Technique in Moderate-to-Severe Osteogenesis Imperfecta: Long-term Outcomes.

BACKGROUND: Osteosynthesis of leg fractures and deformities in children with osteogenesis imperfecta should align the skeleton and overcome its fragility during growth with a telescopic effect. A high rate of mechanical complications is associated with various surgical techniques described in the literature. PURPOSE: The objective of this work was to assess the long-term clinical and radiologic outcomes of tibial sliding elastic nailing technique. METHODS: A total of 22 children with an average age of 4.7 years were operated using the technique between 2004 and 2018 unilaterally (6) or bilaterally (16), that is, 38 operations. They were listed according to the Sillence classification into type I (3), III (17), or V (2). The nails were introduced percutaneously at the distal tibial epiphysis through the medial malleolus, and in the prespinal area for the proximal tibial epiphysis. The stainless-steel rods diameter was 1.5 to 2.5 mm, adapted to the size and weight of the patient. Realignment osteotomies were performed if necessary. Radiographic data including the correction of the deformation in the frontal and sagittal planes, as well as the width at mid-shaft of the tibia in the frontal and sagittal planes, were reviewed. Gillette Functional Score, assessment of pain, mechanical and infectious complications were collected. RESULTS: The average follow-up was 8.6 years. In the frontal plane, preoperative average varus was 8 degrees (maximum, 40 degrees), 5 degrees (maximum, 13 degrees) postoperatively, and 6 degrees (maximum, 12 degrees) at last follow-up. Preoperative valgus was 11 degrees (maximum, 22 degrees), 9 degrees (maximum, 15 degrees) postoperatively, and 9 degrees (maximum, 14 degrees) at the last follow-up. In the sagittal plane, the mean sagittal bowling of the tibia was 32 degrees (4 to 75 degrees) preoperatively, 9 degree (1 to 26 degrees) postoperatively, and 9 degrees (1 to 24 degrees) at last follow-up. The width at mid-shaft of the tibia in the frontal plane was 1.1 cm (0.6 to 1.8 cm) preoperatively and 1.3 cm at the last follow-up (0.7 to 2.0 cm). In the sagittal plane, it was 1.25 cm (0.7 to 2.7 cm) preoperatively and 1.27 cm (0.8 to 2.8 cm) at the last follow-up. Ten patients did not require revision surgery during their follow-up. Sixteen mechanical complications occurred in 12 patients (12 fractures or deformities following a lack of overlap of the 2 rods at an average time of 4.9 years after the initial surgery, 3 prominence of the nail, 1 pseudarthrosis). No infectious complication was reported. Gillette Functional Score was 20.54/65. Fifteen patients were able to walk at last follow-up, and 18 had no painful discomfort. CONCLUSIONS: The tibial sliding elastic nailing technique provides satisfactory clinical and radiologic results over time. Performed in case of fracture or as a preventive treatment, it allows a good correction of angular deformations. It is particularly suitable for young patients with a narrow medullary shaft. LEVEL OF EVIDENCE: Level IV-therapeutic study.

Multiple synostoses syndrome: Radiological findings and orthopedic management in a single institution cohort.

PURPOSE: Multiple synostoses syndrome (MSS) is a rare genetic condition. Classical features consist of joint fusions which notably start at the distal phalanx of the hands and feet with symphalangism progressing proximally to carpal, tarsal, radio-ulnar, and radio-humeral joints, as well as the spine. Usually, genetic testing reveals a mutation of the NOG gene with variable expressivity. The goal was to present the anatomical, functional, and radiological presentations of MSS in a series of patients followed since childhood. METHODS: Patients with more than 3 synostoses affecting at least one hand joint were included. When possible, genetic screening was offered. RESULTS: A retrospective study was performed from 1972 to 2017 and included 14 patients with a mean follow-up of 18.6 years. Mutation of the NOG protein coding gene was seen in 3 patients. All presented with tarsal synostoses including 9 carpal, 7 elbow, and 2 vertebral fusions. Facial dysmorphia was seen in 6 patients and 3 were hearing-impaired. Surgical treatment of tarsal synostosis was performed in 4 patients. Progressing joint fusions were invariably seen on x-rays amongst adults. CONCLUSION: Long radiological follow-up allowed the assessment of MSS progression. Feet deformities resulted in a severe impact on quality of life, and neurological complications secondary to spine fusions warranted performing at least one imaging study in childhood. As there is no treatment of ankylosis, physiotherapy is not recommended. However, surgical arthrodesis for the treatment of pain may have reasonable outcomes.

Transfer of distal peroneus longus tendon to tibialis anterior by retrograde fixation to treat spastic equinovarus foot in adults: Surgical Technique and Preliminary Results.

We describe a retrograde transfer of the distal tendon of the peroneus longus (PL) onto the tibialis anterior (TA) tendon to treat spastic equinovarus foot (SEVF) in adults. The fact that the distal tendon insertions of the PL and TA are a mirror image makes them antagonists. The aim is to divert the distal tendon in front the inactive distal PL tendon, by fixing to the TA in the middle third of the lower leg. This transforms it into a dorsiflexor and reinforces its eversion ability. The suture level helps to avoid skin impingement when wearing shoes, and the complications inherent to transosseous fixation. In a preliminary case series of 10 patients, we found no complications at a mean follow-up of 4.7 years. The Foot Posture Index-6 improved by an average of 2.4 points. Four patients had regained active dorsiflexion. All patients reduced their use of orthotics. All patients improved according to Goal Attainment Scaling.

'In-Out-In' K-wires sliding in severe tibial deformities of osteogenesis imperfecta: a technical note.

Severe infant osteogenesis imperfecta requires osteosynthesis. Intramedullary tibia's osteosynthesis is a technical challenge given the deformity and the medullar canal's narrowness. We describe an extramedullary technique: 'In-Out-In' K-wires sliding. We performed an anteromedial diaphysis approach. The periosteum was released while preserving its posterior vascular attachments. To obtain a straight leg, we did numerous osteotomies as many times as necessary. K-wires ('In') were introduced into the proximal epiphysis, and the medial malleolus ('Out') bordered the cortical and ('In') reach their opposite metaphysis. K-wires were cut, curved and impacted at their respective epiphysis ends to allow a telescopic effect. All tibial fragments are strapped on K-wires, and the periosteum was sutured over it. Our inclusion criteria were children with osteogenesis imperfecta operated before 6 years old whose verticalization was impossible. Seven patients (11 tibias) are included (2006-2016) with a mean surgery's age of 3.3 ± 1.1 years old. All patients received intravenous bisphosphonates preoperatively. The follow-up was 6.1 ± 2.7 years. All patients could stand up with supports, and the flexion deformity correction was 46.7 ± 14.2°. Osteosynthesis was changed in nine tibias for the arrest of telescoping with flexion deformity recurrence and meantime first session-revision was 3.8 ± 1.7 years. At revision, K-wires overlap had decreased by 55 ± 23%. Including all surgeries, three distal K-wires migrations were observed, and the number of surgical procedures was 2.5/tibia. No growth arrest and other complications reported. 'In-Out-In' K-wires sliding can be considered in select cases where the absence of a medullary canal prevents the insertion of intramedullary rod or as a salvage or alternative procedure mode of fixation. It can perform in severe infant osteogenesis imperfecta under 6 years old with few complications and good survival time.

One-stage circumferential limb ring constriction release and direct circular skin closure in amniotic band syndrome: a 14-case series.

The aim of the present study was to report results of direct circular suture after 1-stage circumferential resection of limb ring constriction in amniotic band syndrome. A multicentre retrospective study included 14 patients with amniotic band syndrome (mean age, 13.3 months) operated on between 2004 and 2019 by circumferential release of ≥1 ring constriction. Assessment was based on limb function and clinical scar aspect on the POSAS and Vancouver scales. Mean follow-up was 3.9 years. There were no scar-related, vascular or neurologic complications, postoperatively or at last follow-up. POSAS and Vancouver scores were satisfactory. One-stage circumferential release with direct closure is a simple technique that provides satisfactory functional and esthetic results.

Cortical onlay strut allograft with cerclage wiring of periprosthetic fractures of the humerus without stem loosening: technique and preliminary results.

The goal of this study was to describe an internal fixation technique for periprosthetic humeral fractures using a cortical onlay strut allograft stabilized with cerclage wires and to evaluate the preliminary results of this approach. An anterolateral approach was used to direct access the fracture and to protect the radial nerve. The fracture was reduced with two forceps, under visual control. The fracture was surrounded by two hemicylinder tibial allografts, placed around the humerus with no prior reaming to create a "sarcophagus" system. The allograft was as long as possible for optimal mechanical stability, without creating impingement with the glenoid and the elbow. Final fixation of the allograft was obtained with two cerclage wires. The arm was immobilized in a simple sling. Passive then active rehabilitation was begun after 1 month. Six women, mean age 74.3 ± 10.9 years old, were included in the study between 2013 and 2015 with a mean follow-up of 10 ± 2 months. Bone union was obtained in all patients after 6 months of follow-up with no recurrent fractures.