Congenital Synostosis of the Knee: Long-term Outcomes of Limb Reconstruction Surgery.

BACKGROUND: Congenital synostosis of the knee is a rare condition with limited data on treatment options and outcomes. This study reports clinical findings, treatment approach, and surgical/clinical outcomes for congenital synostosis of the knee. METHODS: An institutional review board-approved retrospective review of patients with congenital synostosis of the knee presenting to 2 institutions between 1997 and 2021 was performed. RESULTS: Eight patients (13 knees) with a median follow-up of 11.3 years (3.3 to 17 y) were included. Seven patients had associated syndromes. Patients presented with an average knee flexion deformity of 100° (range 60 to 130°) and delayed walking ability. Seven patients had associated upper extremity hypoplasia/phocomelia. The average age at the index surgery was 4.3 years (range 1.2 to 9.2 y). Synostosis resection with gradual deformity correction was performed in most patients. An attempt was made at a mobile knee in some patients, but all went on to knee fusion. Mean flexion deformity at final follow-up was 11.6° (range: 0 to 40°) and 5 limbs were fused in full extension. Mean limb length discrepancy at final follow-up was 6.8 cm (range: 0 to 8 cm). All patients maintained their improved ambulation status at final follow-up. Twenty-two complications were identified. CONCLUSIONS: Reliable correction of the deformity associated with congenital knee synostosis was achieved at a median follow-up of 11 years. Importantly, all patients maintained their improved ambulation at final follow-up. This is the largest study on patients with congenital knee synostosis and outlines a reconstructive approach to improve ambulatory status. LEVEL OF EVIDENCE: Level IV.

Surgical Treatment of Congenital and Obligatory Dislocation of the Patella in Children.

BACKGROUND: Congenital (fixed) dislocations and obligatory (habitual) patellar dislocations represent a complex clinical and surgical challenge. Numerous treatment options, offering different perspectives, and surgical solutions are reported in the literature.We implemented the surgical technique principles, originally described by Stanisavljevic, for congenital (fixed) and obligatory (habitual) patellar dislocations, with slight modifications. METHODS: We retrospectively evaluated the results of group of 12 patients (15 knees), operated between the years 2002 and 2013. The procedure includes extensive subperiosteal quadriceps realignment and soft tissue medial plication, followed by distal realignment through patellar tendon splitting. The outcome measures were patellar stability, knee range of motion, Pedi-IKDC knee function score, and the PODCI global function score. RESULTS: The study group included 12 patients, 9 females and 3 males (15 knees) whose mean age was 5 years 2 months at diagnosis and 7 years 5 months at surgery. Nine patients had an underlying diagnosed genetic background [Down syndrome (n=6), Larsen syndrome (n=2), nail-patella syndrome (n=1)]. The mean follow-up was 46.2 months. Eleven patients, gained stable patella with no recurrence of dislocation. Postoperative knee active extension was improved significantly (P<0.0001) for all patients. The average postoperative Pedi-IKDC and PODCI scores were significantly higher (P<0.001) among the idiopathic group. CONCLUSIONS: These results suggest that the Stanisavljevic procedure principles with modifications, provides an efficient method for treatment of fixed and obligatory patellar dislocation. In our opinion, young age at surgery played an important role in the surgical outcome. LEVEL OF EVIDENCE: Level IV-therapeutic.

Are Gait Indices Sensitive Enough to Reflect the Effect of Ankle Foot Orthosis on Gait Impairment in Cerebral Palsy Diplegic Patients?

BACKGROUND: Neuromuscular impairments may compromise gait function in patients with cerebral palsy (CP). As such, ambulatory children with CP often use ankle foot orthosis (AFO) to facilitate and optimize their ability to walk.The aim of this study was to evaluate whether the different gait indices, the Gillette Gait Index (GGI), the Gait Deviation Index (GDI), and the Gait Profile Score (GPS), reflect the improved gait that was previously shown using AFO. METHODS: A retrospective analysis of 53 studies on children with spastic diplegic CP. All had undergone a comprehensive gait study and were analyzed while walking, both barefoot and with their braces, in the same session.Kinematic and temporal spatial data were determined and summarized by 3 methods: GPS, GDI, and GGI. RESULTS: Significant differences were found between the barefoot condition and the AFO conditions for temporal and kinematic parameters: changes in GGI, GDI, and GPS were not statistically significant, with an improvement of 9.33% in GGI (P=0.448) and no change in GDI and GPS. CONCLUSIONS: The use of AFO in diplegic CP children caused a statistically significant improvement in temporal and kinematic parameters. Interestingly, it was found that this improvement was not reflected by GGI, GDI, or GPS.These findings might suggest that gait indices, as outcome measures, may sometimes not reflect all the effects of specific interventions. LEVEL OF EVIDENCE: Level III-retrospective study.

A mosaic activating mutation in AKT1 associated with the Proteus syndrome.

BACKGROUND: The Proteus syndrome is characterized by the overgrowth of skin, connective tissue, brain, and other tissues. It has been hypothesized that the syndrome is caused by somatic mosaicism for a mutation that is lethal in the nonmosaic state. METHODS: We performed exome sequencing of DNA from biopsy samples obtained from patients with the Proteus syndrome and compared the resultant DNA sequences with those of unaffected tissues obtained from the same patients. We confirmed and extended an observed association, using a custom restriction-enzyme assay to analyze the DNA in 158 samples from 29 patients with the Proteus syndrome. We then assayed activation of the AKT protein in affected tissues, using phosphorylation-specific antibodies on Western blots. RESULTS: Of 29 patients with the Proteus syndrome, 26 had a somatic activating mutation (c.49G→A, p.Glu17Lys) in the oncogene AKT1, encoding the AKT1 kinase, an enzyme known to mediate processes such as cell proliferation and apoptosis. Tissues and cell lines from patients with the Proteus syndrome harbored admixtures of mutant alleles that ranged from 1% to approximately 50%. Mutant cell lines showed greater AKT phosphorylation than did control cell lines. A pair of single-cell clones that were established from the same starting culture and differed with respect to their mutation status had different levels of AKT phosphorylation. CONCLUSIONS: The Proteus syndrome is caused by a somatic activating mutation in AKT1, proving the hypothesis of somatic mosaicism and implicating activation of the PI3K-AKT pathway in the characteristic clinical findings of overgrowth and tumor susceptibility in this disorder. (Funded by the Intramural Research Program of the National Human Genome Research Institute.).

Successful conservative treatment for neglected rotatory atlantoaxial dislocation.

BACKGROUND: Rotatory atlantoaxial subluxation (RAS) is a rare condition that is often misdiagnosed and therefore incorrectly managed. We describe our experience and propose an algorithm for treating neglected RAS nonoperatively. METHODS: All consecutive children with neglected (>6 wk) RAS were treated in our department between 2005 and 2010 by cervical traction using a Gleason traction device and nonsteroidal anti-inflammatory drugs and muscle relaxants. When reduction was not achieved, the Gleason device was replaced by a halo device without manipulative reduction, and weight was added as necessary until reduction was successful. Fixation of reduction was either by a sternooccipital mandibular immobilizer or a halo vest for 3 to 4 months. RESULTS: All 5 children (4 boys and 1 girl, aged 4 to 11 y) were successfully treated for neglected RAS. The mean duration from symptom onset (eg, limited neck range of motion, discomfort) to treatment initiation was 11.6 weeks (range, 6 to 16 wk). Closed reduction was achieved by a Gleason or a noninvasive halo device within 1 to 2 weeks in 4 cases. The fifth case was reduced after 5 weeks of traction using a halo with a 5 kg weight. All children had symmetrical full range of motion, normal neurological examination, and were fully engaged in educational and sports activities without recurrent dislocations at final follow-up (mean, 30 mo; range, 18 to 49 mo). CONCLUSIONS: Conservative treatment by gradual and prolonged traction without manipulative reduction in neglected RAS might be a successful method. Reduction can often be achieved within 2 weeks of treatment onset. LEVEL OF EVIDENCE: Level IV (retrospective case series).

Do first opinions affect second opinions?

BACKGROUND: Second medical opinions have become commonplace and even mandatory in some health-care systems, as variations in diagnosis, treatment or prognosis may emerge among physicians. OBJECTIVE: To evaluate whether physicians' judgment is affected by another medical opinion given to a patient. DESIGN: Orthopedic surgeons and neurologists filled out questionnaires presenting eight hypothetical clinical scenarios with suggested treatments. One group of physicians (in each specialty) was told what the other physician's opinion was (study group), and the other group was not told what it was (control group). PARTICIPANTS: A convenience sample of 332 physicians in Israel: 172 orthopedic surgeons (45.9% of their population) and 160 neurologists (64.0% of their population). MEASUREMENTS: Scoring was by choice of less or more interventional treatment in the scenarios. We used χ(2) tests and repeated measures ANOVA to compare these scores between the two groups. We also fitted a cumulative ordinal regression to account for the dependence within each physician's responses. RESULTS: Orthopedic surgeons in the study group chose a more interventionist treatment when the other physician suggested an intervention than those in the control group [F (1, 170) =4.6, p=0.03; OR=1.437, 95% CI 1.115-1.852]. Evaluating this effect separately in each scenario showed that in four out of the eight scenarios, they chose a more interventional treatment when the other physician suggested an intervention (scenario 1, p=0.039; scenario 2, p<0.001; scenario 3, p=0.033; scenario 6, p<0.001). These effects were insignificant among the neurologists [F (1,158) =0.44, p=0.51; OR=1.087, 95% CI 0.811-1.458]. In both specialties there were no differences in responses by level of clinical experience [orthopedic surgeons: F (2, 166) =0.752, p=0.473; neurologists: F (2,154) =1.951, p=0.146]. CONCLUSIONS: The exploratory survey showed that in some cases physicians' judgments may be affected by other physicians' opinions, but unaffected in other cases. Weighing previous opinions may yield a more informed clinical decision, yet physicians may be unintentionally influenced by previous opinions. Second opinion has the potential to improve the clinical decision-making processes, and mechanisms are needed to reconcile discrepant opinions.

Ponseti treated idiopathic clubfoot - outcome predictive factors in the test of time: analysis of 500 feet followed for five to 20 years.

PURPOSE: To investigate a set of risk factors on the outcome of Ponseti treated idiopathic clubfeet (ICF). METHODS: This study was approved by the institutional review board. A retrospective analysis of prospectively gathered data over a 20-year period, at a single dedicated clubfoot clinic. Records of 333 consecutive infants with 500 ICF were analyzed. Initial Pirani score, number of casts, need for tenotomy, foot abduction brace compliance and functional score had been documented. The need for surgery after initial correction was the outcome measure. All children were followed by the same team throughout the study period. Descriptive statistics, chi-squared and multivariate analysis were performed. RESULTS: In total, 82 children (24%) with 119 feet (23.8%) were operated on, with 95.1% of feet being operated up to the age of nine years. There was a significant correlation between the Pirani score at presentation and the number of surgical procedures (chi-squared = 79.32; p < 0.001). Achilles tenotomy was done in 94.8% of patients. Pirani score of > 4.5 before casting was strongly associated with increased surgical risk (odds ratio = 1.95). When six to eight cast changes were needed, surgical prospect was 2.9 more, increasing to 11.9 when nine or more casts were needed. CONCLUSION: Foot severity and number of cast changes were the strongest predictors for future surgery. Estimation of the risk of deformity recurrence after initial correction may help in tailoring a cost-effective personal treatment and follow-up protocol. Personalized focused protocol will help patients and caregivers and will reduce expenses. LEVEL OF EVIDENCE: Level II - prognostic study.

A systematic review of reported outcomes following Ponseti correction of idiopathic club foot.

AIMS: To analyze outcomes reported in studies of Ponseti correction of idiopathic clubfoot. METHODS: A systematic review of the literature was performed to identify a list of outcomes and outcome tools reported in the literature. A total of 865 studies were screened following Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines, and 124 trials were included in the analysis. Data extraction was completed by two researchers for each trial. Each outcome tool was assigned to one of the five core areas defined by the Outcome Measures Recommended for use in Randomized Clinical Trials (OMERACT). Bias assessment was not deemed necessary for the purpose of this paper. RESULTS: In total, 20 isolated outcomes and 16 outcome tools were identified representing five OMERACT domains. Most outcome tools were appropriately designed for children of walking age but have not been embraced in the literature. The most commonly reported isolated outcomes are subjective and qualitative. The quantitative outcomes most commonly used are ankle range of motion (ROM), foot position in standing, and muscle function. CONCLUSIONS: There is a diverse range of outcomes reported in studies of Ponseti correction of clubfoot. Until outcomes can be reported unequivocally and consistently, research in this area will be limited. Completing the process of establishing and validating COS is the much-needed next step.Cite this article: Bone Joint Open 2020;1-8:457-464.

The effect of growth hormone treatment in a child with tricho-rhino-phalangeal syndrome: A case report and review of the literature.

Tricho-rhino-phalangeal syndrome (TRPS) is characterized by craniofacial and skeletal malformations including short stature, cone-shaped phalangeal epiphyses and Perthes-like changes of the hip. We describe the response to growth hormone (GH) treatment in a boy with TRPS. The patient presented at age 3.5 years for evaluation of short stature (-3.2SD). On physical examination, the characteristic facial phenotype of TRPS was noted. Radiographs showed cone-shaped phalangeal epiphyses and bilateral small and fragmented femoral heads. The diagnosis was confirmed by Sanger sequencing of the TRPS1 gene. Two GH stimulation tests revealed GH deficiency, and GH treatment was initiated. Subsequently, growth velocity improved, as did the radiographic appearance of the femoral epiphyses, as seen on sequential pelvis radiographs. This observation suggests the possibility of a beneficial effect of GH treatment on both height and epiphyses status in TRPS patient with GH deficiency. Further studies are needed to support the observation.

The efficacy of guided growth as an initial strategy for Blount disease treatment.

PURPOSE: The aim of this study was to evaluate the success of guided growth by temporal hemiepiphysiodesis of the lateral proximal tibia as a first line treatment option for Blount disease. METHODS: This was a retrospective multicentre study conducted in five centres, covering data on 55 limbs in 45 patients, with an average follow-up of 24.5 months following plate insertion. Preoperative alignment analysis was compared with three measurements taken postoperatively. The normalization of the mechanical medial proximal tibia angle (mMPTA) was defined as the primary outcome measure. RESULTS: Mean age at surgery was 9.5 years. Average preoperative mMPTA was 77°. On average, at 24.5 months post-surgery, mMPTA was 86.33°, while 43/55 limbs (78.18%) have achieved normalization (mMPTA 85° to 90°). Average rate of correction was 1° per month. When grouping the children as infantile (11 limbs), juvenile (12 limbs) and adolescent (32 limbs), operated on before the age of four years, between four and ten years and after the age of ten years, respectively, 63.63%, 66.67%, 87.5% have completed correction of deformity during the follow-up period. Interestingly, the femoral component of the deformity has achieved correction as well in 33/55 limbs (64%). CONCLUSION: Hemiepiphysiodesis is an effective first line treatment for Blount disease. Overall success rate is good but varies according to child's age. Adolescent Blount has the best chance of achieving full correction while same treatment is less effective in infantile Blount.Level of evidence: IV.

Musculoskeletal manifestations of cat scratch disease.

BACKGROUND: Musculoskeletal manifestations (MMs) are considered to be rare in cat scratch disease (CSD) and are not well characterized. We aimed to study MMs of CSD. METHODS: A surveillance study performed over 11 years identified patients with CSD on the basis of compatible clinical presentation and confirmatory serological test or PCR results for Bartonella henselae. Patients with CSD who had MMs (i.e., myalgia, arthritis, arthralgia, tendinitis, osteomyelitis, and neuralgia) were compared with patients with CSD who did not have MMs (control subjects). RESULTS: Of 913 patients with CSD, 96 (10.5%) had MMs. Myalgia (in 53 patients [5.8%]) was often severe, with a median duration of 4 weeks (range, 1-26 weeks). Arthropathy (arthralgia and/or arthritis; in 50 patients [5.5%]) occurred mainly in the medium and large joints and was classified as moderate or severe in 26 patients, with a median duration of 5.5 weeks (range, 1-240 weeks). In 7 patients, symptoms persisted for >or=1 year; 5 developed chronic disease. Tendinitis, neuralgia, and osteomyelitis occurred in 7, 4, and 2 patients, respectively. Patients with MMs were significantly older than patients in the control group (median age, 31.5 years vs. 15.0 years). In multivariate analysis, age >20 years was associated with having any MM (relative risk [RR], 4.96; 95% confidence interval [CI], 2.79-8.8), myalgia (RR, 4.69; 95% CI, 2.22-9.88), and arthropathy (RR, 11.0; 95% CI, 4.3-28.2). Arthropathy was also associated with female sex (RR, 1.89; 95% CI, 1.01-3.52) and erythema nodosum (RR, 4.07; 95% CI, 1.38-12.02). CONCLUSIONS: MMs of CSD are more common than previously thought and affect one-tenth of patients with CSD. MMs occur mostly in patients aged >20 years and may be severe and prolonged. Osteomyelitis, the most well known MM of CSD is, in fact, the rarest.

Normal vision despite narrowing of the optic canal in fibrous dysplasia.

BACKGROUND: Fibrous dysplasia of bone frequently involves the anterior base of the cranium and results in encasement of the optic-nerve canals. It has been assumed that such encasement leads to constriction and eventual blindness. There is controversy about whether patients should be regularly monitored or whether they should undergo prophylactic decompression of the optic nerve. This question is of particular concern in patients with normal vision, since the risks associated with surgical decompression include blindness. METHODS: We studied 38 patients with fibrous dysplasia of the lesser wing of the sphenoid bone. The patients underwent a detailed neuro-ophthalmologic examination and computed tomography of the face and skull, reformatted to measure the extent of involvement of the optic canal and the area of the canals. The results were compared with those of 38 age- and sex-matched controls. RESULTS: Of the 38 patients, 15 were male and 23 female, and their mean age was 26 years. Twelve had polyostotic fibrous dysplasia, and 26 had the McCune-Albright syndrome. Sixty-seven optic canals were affected by fibrous dysplasia; in 49 of them (73 percent) there was complete encasement. The mean (+/-SD) areas of the right and left canals were 9.6+/-3.8 mm2 and 9.9+/-3.6 mm2, respectively, in the patients, as compared with 12.0+/-2.9 mm2 and 11.9+/-2.7 mm2 in the controls (P=0.009 for the comparison of the right areas and P=0.03 for the comparison of the left areas by the paired t-test). In all but two of the patients, the results of neuro-ophthalmologic examination were normal. In the two patients with monocular visual impairment, the areas of the optic canals were similar on the normal and abnormal sides. CONCLUSIONS: Encasement of the optic canal in fibrous dysplasia causes narrowing of the canal, but that in itself does not result in visual loss. Therefore, prophylactic decompression of the optic nerve does not appear to be indicated on the basis of the presence of fibrous dysplasia on diagnostic images alone, since it does not correlate with visual loss.

Primary pyomyositis in children: a retrospective analysis of 11 cases.

This study was undertaken to review our approach to diagnosis and treatment in a series of 11 patients (mean age 8.2 years) with primary pyomyositis, who had neither an underlying disease nor a compromised immune system. Nine of the children had positive blood cultures, Staphylococcus aureus (eight) and Streptococcus group A (one). The sites of infection were iliopsoas (four), obturator (two), hip adductors (two), levator scapula (one), thoracolumbar paraspinal (one) and gastrocnemius (one) muscles. Antibiotic treatment was initially intravenous, followed by oral administration. Of five patients with evidence of abscess formation, three underwent percutaneous drainage, whereas two required open surgical drainage. The infection resolved completely without any sequela in 10 children. One patient who developed acute compartment syndrome showed late signs of osteonecrosis of the tibial shaft segment.

[Current management of idiopathic clubfoot].

Idiopathic clubfoot, one of the most common problems in pediatric orthopaedics, is characterized by a complex three-dimensional deformity of the foot. The treatment of clubfoot is controversial and continues to be so. Since nonsurgical management was thought not to yield adequate correction and a durable result, most children with idiopathic clubfoot have undergone surgery with extensive posteromedial and lateral release. However, surgical management caused residual deformity, stiffness, and pain in some children. Therefore, the favorable long-term results with the Ponseti and French methods of nonsurgical management have garnered interest. Today extensive surgical treatment is no longer necessary in more then 90% of congenital clubfeet. This review aims to assess the different methods of clubfoot treatment used over the years in light of an evolving understanding of the pathoanatomy of the deformity and also clarify factors that allow a safe, logical approach to clubfoot management.

The correlation of specific orthopaedic features of polyostotic fibrous dysplasia with functional outcome scores in children.

BACKGROUND: Polyostotic fibrous dysplasia has a wide clinical spectrum, with substantial variation between patients in terms of orthopaedic manifestations, including the number of fractures, the degree of deformity of the limbs, and the presence of scoliosis. Data from bone scans, skeletal surveys, and records were correlated with the Pediatric Outcomes Data Collection Instrument scales to examine whether any specific facet of orthopaedic involvement could be related to functional abilities. METHODS: All patients who were sixteen years of age or younger and who were part of an ongoing natural history study of polyostotic fibrous dysplasia (including McCune-Albright syndrome) were sent an age-appropriate Pediatric Outcomes Data Collection Instrument outcomes tool. The medical records and radiographs of the patients who returned forms were reviewed. Radiographic measurements of scoliosis, the femoral neck-shaft angle, and limb deformities were then performed. The extent of skeletal involvement with polyostotic fibrous dysplasia (disease burden) was assessed on bone scans with use of a validated tool. A chart review was performed to determine the fracture rate, the use of bisphosphonates, and the endocrine status. These measurements were correlated with the Pediatric Outcomes Data Collection Instrument scores. RESULTS: The outcomes tool was sent to twenty-seven patients and the completed instrument was returned by twenty patients, for a response rate of 74%. The parent-child form was filled out for twelve patients and the parent-adolescent form was filled out for eight patients. The mean standardized Pediatric Outcomes Data Collection Instrument scores for all twenty patients were lowest for sports (62; range, 14 to 100) and happiness (72; range, 25 to 100). Adolescents and parents disagreed with regard to sports (with adolescent scores being higher than parental scores) and pain (with parental scores being higher than adolescent scores). However, the overall global scores correlated well between the parents and the adolescents (r = 0.78, p = 0.03). The femoral neck-shaft angle correlated strongly with the Pediatric Outcomes Data Collection Instrument score for sports (r = 0.46, p = 0.03) but not for transfers. The bone scan scores for the lower extremity disease burden correlated with both the transfer scale (r = 0.76, p = 0.03) and the sports scale (r = 0.77, p = 0.02). Deformity of the limbs, the presence of scoliosis, the prevalence of endocrine dysfunction, and the number of fractures did not correlate with the Pediatric Outcomes Data Collection Instrument scores. CONCLUSIONS: In patients with polyostotic fibrous dysplasia, the loss of the normal femoral neck-shaft angle and the disease burden in the lower extremities appear to have the greatest effect on functional activity as measured with the Pediatric Outcomes Data Collection Instrument tool.

Radiographic Indicators of Surgery and Functional Outcome in Ponseti-Treated Clubfeet.

BACKGROUND: Evaluation of the results of treatment for clubfoot by the Ponseti technique is based on clinical and functional parameters. There is a need to establish universally recognized quantitative measurements to compare, better understand, and more precisely evaluate therapeutic outcome. METHODS: Nine angles were measured on standard radiographs of 145 children with idiopathic clubfeet treated between 2000 and 2010 with the Ponseti method. The average follow-up was 6.3 years. The need for additional surgery and the functional outcome was correlated to the radiologic measurements. RESULTS: Three radiologic parameters were identified as having significant (P ≤ .001) predictive value. The lateral tibiocalcaneal angle with the ankle at maximal dorsiflexion measuring fixed equinus was larger in the preoperated group (77 ± 12 degrees) compared to the nonoperated group (67 ± 14 degrees). Functional outcome was better with smaller angles. The lateral talocalcaneal angle with the ankle at maximal dorsiflexion measuring hindfoot rigidity was smaller (29 ± 8 degrees) in the preoperated group compared to the nonoperated group (35 ± 9 degrees). Functional outcome was better with larger angles. The lateral talo-first metatarsal angle with the ankle at maximal plantarflexion measuring foot cavus was larger in the preoperated group (31 ± 10 degrees) compared to the nonoperated group (22 ± 11 degrees), whereas functional outcome did not correlate with this angle. CONCLUSIONS: The lateral view with the foot in maximal dorsiflexion was found to be the most significant and useful view to detect abnormality in Ponseti-treated clubfeet. In our practice now, we are using only this view in order to reduce the radiation exposure to the child. LEVEL OF EVIDENCE: Level III, retrospective case series.

Bone-Grafting in Polyostotic Fibrous Dysplasia.

BACKGROUND: Polyostotic fibrous dysplasia is a skeletal disease that results from somatic activating mutations in the gene GNAS in skeletal stem cells, leading to proliferation of immature osteogenic cells with replacement of normal marrow and bone with fibro-osseous tissue. Lesions may cause bone deformity or fracture. In the surgical care of polyostotic fibrous dysplasia, the role of grafting and the optimal grafting material are not clear. The purpose of this study was to evaluate the long-term survival of bone-grafting procedures in subjects with polyostotic fibrous dysplasia over time. METHODS: The operative reports and radiographs of a cohort of subjects with polyostotic fibrous dysplasia followed in a natural history study were reviewed. Twenty-three subjects (mean age at the time of enrollment, thirteen years [range, two to forty years]) with fifty-two bone-grafting procedures had a mean follow-up time of 19.6 years (range, twenty-nine months to forty-seven years). Kaplan-Meier life table estimates, Cox proportional hazard models, and t tests comparing means were performed to assess various aspects of graft survival. RESULTS: Kaplan-Meier curves showed a 50% estimate of survival of 14.5 years. Cox proportional hazards models showed no advantage comparing allograft with autograft or structural with nonstructural graft materials. The mean age of the patients was significantly greater (p < 0.001) in the subgroup of subjects in whom grafts were maintained over time (20.9 years) compared with the subgroup of patients whose grafts were resorbed over time (9.8 years). CONCLUSIONS: Bone-grafting, including both allograft and autograft, is of limited value in ablating the lesions of fibrous dysplasia. The expectations of patients and surgeons should include the high probability of graft resorption over time with return of bone characteristics of fibrous dysplasia, particularly in younger patients. This suggests the maintenance of normal bone mechanics with implant support should be the priority of any surgical intervention.

An instrument to measure skeletal burden and predict functional outcome in fibrous dysplasia of bone.

UNLABELLED: An instrument to measure skeletal burden in fibrous dysplasia was developed. Biological and clinical relevance was shown by correlating skeletal burden scores with bone markers, quality of life, and ambulatory status. Childhood scores predict adult ambulatory status, and scores were unaffected when bone markers decreased with bisphosphonate treatment or aging. INTRODUCTION: Fibrous dysplasia (FD) is a skeletal disease with a broad clinical expression. There is no objective method to assess the extent of skeletal involvement or predict outcome. We developed an instrument to measure skeletal burden that correlates with physical function, health-related quality of life (HRQL), and ambulatory status. MATERIALS AND METHODS: Seventy-nine patients with FD underwent bone scintigraphy. The skeletal burden score was derived from a weighted score based on the regional measurement using bone scintigraphy to estimate the amount of FD in anatomical segments. Six readers scored 20 scans twice to determine the inter- and intrareader agreement. To assess biological significance, scores were correlated with bone markers. To assess functional outcome, scores on the SF-36 (adults) or CHQ-PF50 (children) were correlated with skeletal burden scores. In a group of patients who had bone scans as children and adults (n = 6), the ability to predict ambulatory status was tested. Skeletal burden scores were assessed in patients before and after treatment with pamidronate (n = 5). RESULTS: The inter- and intrareader agreement of burden scores were r = 0.96, and 0.98, respectively (p < 0.001 for both). The scores correlated with markers of bone metabolism and HRQL (Spearman rho, 0.54-0.67 p < 0.001 and -0.43, p = 0.001, respectively). The mean score of patients who ambulated unassisted was significantly lower than those requiring assistance (p < 0.001 unassisted versus crutch and/or wheelchair). In unassisted ambulators, younger patients had higher scores, suggesting high childhood scores may predict adulthood impairment. In six patients with childhood and adulthood scans, childhood scores >30 predicted assisted ambulation in adulthood. There was a negative correlation between bone markers and age (Spearman rho, -0.42 to -0.70; p < 0.001), but not age and skeletal burden score. Pamidronate treatment decreased serum alkaline phosphatase but had no effect on the skeletal burden score. CONCLUSIONS: This is a validated and reliable instrument for the measurement of skeletal burden of FD and is able to predict functional outcome.

Early experience with the Ponseti method for the treatment of congenital idiopathic clubfoot.

BACKGROUND: The preferred conservative treatment for congenital idiopathic clubfoot deformity remains a controversial issue. OBJECTIVES: To compare the outcomes of two groups of CICF patients who underwent two different treatment protocols. METHODS: The study cohort included 72 infants treated in our hospital from August 1998 to December 2002. Group 1 comprised 40 infants (61 clubfeet) who were treated by a traditional method (a modification of the Kite and Lovell technique), and group 2 consisted of 32 infants (48 clubfeet) treated with the Ponseti technique. Both groups were similar in age, gender and severity of the deformity (Dimeglio scoring system). RESULTS: After an average follow-up of 54.9 months (range 44-68), 35 (57%) clubfeet in group 1 required surgical intervention and 27 (44%) clubfeet had a residual deformity at last follow-up. In the Ponseti group, 45 (94%) clubfeet were fully corrected at last follow-up (average 29.2 months, range 16-45) while 3 (6%) clubfeet had residual deformity and required surgery. Achilles tendon tenotomy was performed with no complications in 47 clubfeet (in group 2) at an average age of 2.4 months (range 2-4 months). CONCLUSIONS: Even after a relatively short follow-up period, our success rate with the Ponseti approach already appears to be significantly higher and to bear fewer complications than the traditional treatment, in agreement with the results published by other medical centers. We now endorse the Ponseti technique of conservative manipulative treatment for congenital idiopathic clubfoot in our department.