Are Generative Pretrained Transformer 4 Responses to Developmental Dysplasia of the Hip Clinical Scenarios Universal? An International Review.

OBJECTIVE: There is increasing interest in applying artificial intelligence chatbots like generative pretrained transformer 4 (GPT-4) in the medical field. This study aimed to explore the universality of GPT-4 responses to simulated clinical scenarios of developmental dysplasia of the hip (DDH) across diverse global settings. METHODS: Seventeen international experts with more than 15 years of experience in pediatric orthopaedics were selected for the evaluation panel. Eight simulated DDH clinical scenarios were created, covering 4 key areas: (1) initial evaluation and diagnosis, (2) initial examination and treatment, (3) nursing care and follow-up, and (4) prognosis and rehabilitation planning. Each scenario was completed independently in a new GPT-4 session. Interrater reliability was assessed using Fleiss kappa, and the quality, relevance, and applicability of GPT-4 responses were analyzed using median scores and interquartile ranges. Following scoring, experts met in ZOOM sessions to generate Regional Consensus Assessment Scores, which were intended to represent a consistent regional assessment of the use of the GPT-4 in pediatric orthopaedic care. RESULTS: GPT-4's responses to the 8 clinical DDH scenarios received performance scores ranging from 44.3% to 98.9% of the 88-point maximum. The Fleiss kappa statistic of 0.113 (P = 0.001) indicated low agreement among experts in their ratings. When assessing the responses' quality, relevance, and applicability, the median scores were 3, with interquartile ranges of 3 to 4, 3 to 4, and 2 to 3, respectively. Significant differences were noted in the prognosis and rehabilitation domain scores (P < 0.05 for all). Regional consensus scores were 75 for Africa, 74 for Asia, 73 for India, 80 for Europe, and 65 for North America, with the Kruskal-Wallis test highlighting significant disparities between these regions (P = 0.034). CONCLUSIONS: This study demonstrates the promise of GPT-4 in pediatric orthopaedic care, particularly in supporting preliminary DDH assessments and guiding treatment strategies for specialist care. However, effective integration of GPT-4 into clinical practice will require adaptation to specific regional health care contexts, highlighting the importance of a nuanced approach to health technology adaptation. LEVEL OF EVIDENCE: Level IV.

Total hip arthroplasty in patients with common pediatric hip orthopedic pathology.

Purpose: Literature regarding total hip arthroplasty for pediatric hip diseases is scarce. This review aims to portray the various orthopedic conditions of childhood that can lead to significant impairment of the hip joint and, ultimately, to total hip arthroplasty in adolescence and adulthood. Methods: In total, 61 out of 3666 articles were selected according to (1) the diagnosis of one of the 12 pediatric hip pathologies (Legg-Perthes-Calvé disease, developmental dysplasia of the hip, slipped capital femoral epiphysis, neuromuscular hip dysplasia, post-traumatic avascular necrosis of the proximal femur, juvenile rheumatoid arthritis, achondroplasia, spondyloepiphyseal dysplasia, mucopolysaccharidosis, mucolipidosis, hip infections, and tumors) that required total hip arthroplasty; (2) minimum follow-up of 16 months; (3) assessed outcome with a clinical or radiologic score; (4) Methodological Items for Non-Randomized Studies quality score of 9 or higher. The following information for each pathology was retrieved: mean age at total hip arthroplasty, reason for total hip arthroplasty, type of total hip arthroplasty, surgical technique, mean follow-up, and outcomes. Results: Overall, the mean age at total hip arthroplasty for pediatric hip disease is in the sixth and seventh decade, except for tumors and skeletal dysplasias. The reason for performing total hip arthroplasty is often osteoarthrosis and abnormal anatomy. Prosthesis types change based on patient's conditions and technological advances; custom-made implants are used for tumors, juvenile rheumatoid arthritis, and skeletal dysplasias; for other diseases, the most frequent are modular cementless implants. Outcomes are generally good, and all studies portray functional and pain improvements. Conclusion: Total hip arthroplasty is performed more frequently than in the past in patients with pediatric hip pathologies; it enhances patients' quality of life by reducing pain and improving function. However, revision rate in these patients is not negligible.

Functional and radiological outcome of C-shaped intercondylar fractures in children.

The aim of this study was to retrospectively evaluate the clinical, functional, and radiographic outcomes of displaced C-shaped intercondylar fractures of the humerus in children and adolescents, and evaluate upper-extremity function with the short version of the Disabilities of the Arm, Shoulder and Hand outcome questionnaire (Quick DASH). We retrospectively reviewed the data of nine children with displaced C-intercondylar fractures that were treated surgically. Age, sex, laterality, mechanism of injury, amount of displacement, type of treatment, fixation method, and outcome were recorded. The outcome of C-shaped fractures was compared with that of T-intercondylar fractures published by the same surgeons in a previous study. A total of nine consecutive patients (median age, 12 years; range, 9-14 years) with displaced C-intercondylar fractures of the humerus (3 females) were included; in six cases (67%), the left side was affected. Median follow-up was 2 years (range, 2-6). All patients underwent open reduction and internal fixation by screws ( n = 5), Kirschner-wires ( n = 3), or both ( n = 1). Overall, four out of nine patients developed a total of five complications (55.5%): one case of secondary displacement, one case of fishtail deformity, two cases extension deficit, and one case of limited flexion/extension requiring release. The median Quick DASH score at last follow-up visit was 0 (range, 0-4.5). C-intercondylar fractures should be added as a class to complete the Tnoniolo and Wilkin's classification. The prognosis is similar to that of T-intercondylar fractures because, in both cases, fractures are intra-articular and require open reduction and internal fixation.

What Is the Exact Contribution of PITX1 and TBX4 Genes in Clubfoot Development? An Italian Study.

Congenital clubfoot is a common pediatric malformation that affects approximately 0.1% of all births. 80% of the cases appear isolated, while 20% can be secondary or associated with complex syndromes. To date, two genes that appear to play an important role are PTIX1 and TBX4, but their actual impact is still unclear. Our study aimed to evaluate the prevalence of pathogenic variants in PITX1 and TBX4 in Italian patients with idiopathic clubfoot. PITX1 and TBX4 genes were analyzed by sequence and SNP array in 162 patients. We detected only four nucleotide variants in TBX4, predicted to be benign or likely benign. CNV analysis did not reveal duplications or deletions involving both genes and intragenic structural variants. Our data proved that the idiopathic form of congenital clubfoot was rarely associated with mutations and CNVs on PITX1 and TBX4. Although in some patients, the disease was caused by mutations in both genes; they were responsible for only a tiny minority of cases, at least in the Italian population. It was not excluded that other genes belonging to the same TBX4-PITX1 axis were involved, even if genetic complexity at the origin of clubfoot required the involvement of other factors.

Current trends in the treatment of supracondylar fractures of the humerus in children: Results of a survey of the members of European Paediatric Orthopaedic Society.

Purpose: The purpose of this study was to evaluate the current trends in the treatment of supracondylar humerus fractures as well as the preferred post-operative follow-up protocol among members of the European Paediatric Orthopaedic Society. Methods: The survey was composed by four main domains and 26 items: (1) surgeon information (3 items); (2) treatment (8 items); (3) post-operative treatment (3 items); and (4) factors influencing the outcome (12 items). All active members of European Paediatric Orthopaedic Society were invited by email to answer an electronic questionnaire. Results: The survey was submitted to 397 European Paediatric Orthopaedic Society active members; 184 members answered (46.3%) the questionnaire. Among respondents, 64.1% declared >10 years of experience and 55.4% declared to treat >20 supracondylar humerus fractures per year. Closed reduction, percutaneous pinning, and supine position were the preferred treatment option for Gartland type II and III supracondylar humerus fractures by 79.9%, 95.5%, and 84.8% of respondents, respectively. Supracondylar humerus fractures are treated within 24 h from trauma by 33.2% of respondents. Pins are removed 4 weeks from index procedure by 58.2% of respondents. Fracture type (72.3%), surgeon experience, and (71.2%) are of "crucial importance" for expected outcome of supracondylar humerus fractures treatment. Conclusion: Surgeon experience, type of fracture, treatment modality, and pins configuration were considered the main factors potentially influencing the outcome of supracondylar humerus fractures. European Paediatric Orthopaedic Society members agreed on the treatment modality of Gartland type II and III supracondylar humerus fractures, patient positioning, and timing of hardware removal. Other important issues such as timing of surgery, pins configuration, surgical approach, and post-operative protocol are still debated. Level of evidence: level II.

Clinical Characteristics and Distribution of Pediatric Fractures at a Tertiary Hospital in Northern France: A 20-Year-Distance Comparative Analysis (1999-2019).

Background and objectives: The epidemiology and distribution of pediatric fractures change over time and are influenced by a multitude of factors including geography, climate, and population characteristics. The aims of our work were to study the distribution of traumatic pediatric orthopedic injuries admitted to the Lille University Hospital (LUH) Pediatric Emergency Department in 1999 and in 2019 and to analyze the epidemiological differences 20 years apart. Materials and methods: This was a retrospective, comparative, monocentric, and epidemiological study involving all children between 0 and 15 years and 3 months of age who consulted the pediatric emergencies of LUH from 1 January 1999 to 31 December 1999 and from 1 January 2019 to 31 December 2019. On admission, the following data were collected: sex, age at the time of injury, month and time of the day the trauma occurred (4:00 a.m to 11:59 a.m, 12:00 p.m. to 19:59 p.m, and 20:00 p.m to 3:59 a.m.), mechanism of injury, laterality (right or left), anatomical location, type of injury, and whether the fracture was closed or open. The type of treatment (orthopedic or surgical) was collected from the medical records. Results: A total of 939 children were included in 1999 compared with 781 in 2019 (21% decrease); the average age of children with fractures was significantly higher in 1999 (8.81 years) than in 2019 (7.19 years). This difference was explained by the majority involvement of older children (10-15 years) in 1999 (43% of fractures in 1999 versus 25% of fractures in 2019). Conversely, small children (1-5 years) had significantly more fractures in 2019 (36%) than in 1999 (24%). Conclusions: Overall, the types and sites of fractures did not change over the studied time despite a change in the population and mechanism of injury. This suggested that the reflexes of breaking a fall still tended to implicate and damage the same bone segments. Finally, the proportion of fractures managed surgically versus orthopedically has not evolved since 1999. Exploring this is a possible area of further research that would complement our study.

Is Obesity a Risk Factor for Loss of Reduction in Children with Distal Radius Fractures Treated Conservatively?

Background: Obesity in children is a clinical and social burden. The distal radius (DR) is the most common site of fractures in childhood and conservative treatment is widely used. Loss of reduction (LOR) is the major casting complication. The aim of this study is to evaluate obesity as a risk factor for LOR in children with displaced DR fractures (DRF) treated conservatively. Methods: 189 children under 16 years of age were treated conservatively for DRF. Patients were divided into three groups: normal weight (NW), overweight (OW) and obese (OB). The following radiographic criteria were evaluated in all patients: amount of initial translation (IT); quality of initial reduction; Cast (CI), Padding (PI), Canterbury (CaI), Gap (GI) and Three-Points (3PI) indices and the presence of LOR. Results: Statistically significant differences were found between the NW and the OB group for number of LOR (p = 0.002), severity (grade) of initial translation (p = 0.008), quality of initial reduction (p = 0.01) as well as CsI and CaI (p < 0.001). Conclusions: Obese children have a significantly higher rate of LOR compared to NW and OW children. A close follow-up is necessary in this population of patients. Preventive percutaneous pinning could be considered in older obese patients in order to reduce the need for further treatment.

Review of pediatric functional outcomes measures used to evaluate surgical management in pediatric patients with an upper extremity fracture.

For two decades, many scores, questionnaires, and rating systems have been used to evaluate the functional outcome of children with an upper extremity fracture (UEF). However, only a few of these were created specifically for children, and many assess only elbow function. In the absence of any published review on this topic, we set out to identify and categorize different scores used to evaluate the clinical and functional outcomes of surgically treated pediatric UEFs. A literature search was performed, and 38 studies were identified. The scores used more often were the shortened version of the Disability of the Arm, Shoulder and Hand questionnaire and the Mayo Elbow Performance Score/Index. In a lower number of studies, authors used other scoring systems, including the Mayo Wrist Score, the Patient-Rated Wrist Evaluation, the Patient-Rated Elbow Evaluation, the Métaizeau functional scoring system, the Oxford Elbow Score, the Price and Flynn criteria, the Hardacre Functional Score, the Neer Shoulder Score, the Constant-Murley Shoulder Score, the Modified Orthopedic Trauma Association Score, the Medical Outcomes Study Short Form-36, and the Pediatric Outcomes Data Collection Instrument. Some specific pediatric scoring systems to evaluate the functional outcome of children with a UEF have been suggested, but a single tool that is valid and reliable for skeletally immature patients of all ages is not yet available. Further studies are needed to identify specific pediatric measurements to increase validity, responsiveness, sensitivity, and interpretability of upper limb functional outcome scores in common clinical practice.

Results of the Italian Pediatric Orthopedics Society juvenile flexible flatfoot survey: diagnosis and treatment options.

The objectives of this study were to collect and analyze current diagnosis and treatment options of symptomatic flexible flatfoot (FFF), as well as to identify treatment expectations, among the members of the Italian Pediatric Orthopedics Society (SITOP). Diagnosis and treatment preferences were recorded according to a web-based survey. The survey was divided into six main sections: (1) general clinical parameters; (2) foot aspects; (3) X-ray angles (or lines); (4) expectations; (5) standard clinical assessment; (6) treatment options. One hundred and ten out of 248 SITOP members answered to the questionnaire. Age (85.5%), pain at the level of the plantar arch or fascia (61.8%), fatigue (59.1%) were the clinical parameters of crucial importance. Heel valgus (85.4%), flexibility (61.8%) and forefoot supination (47.3%) were identified as the most important foot aspects. Ninety-two responders (83.6%) identified the 'improved ability to walk longer without symptoms or discomfort' as the principal treatment expectation. Pain evaluated through the visual analog scale (VAS) was considered crucial in 31.8% of cases. All respondents confirmed they also treat patients with FFF surgically; in particular, 97.3% of SITOP affiliates declare to perform arthroereisis followed by lateral column lengthening (29.1%) and medializing calcaneal osteotomy (9.1%). Although in this survey heterogeneous findings for diagnosis and treatment of patients with symptomatic FFF within SITOP members were found, a large preference for age, heel valgus, flexibility as clinical aspects and parameters, as well as nonoperative treatment and arthroereisis, was reported.

Percutaneous Achilles tenotomy using a 18 gauge needle in the treatment of clubfoot with Ponseti method.

Tenotomy is the final step in the corrective phase for the resolution of residual equinus in the Ponseti method of treating clubfoot. There are several methods for obtaining a complete section of the tendon, ranging from mini-open techniques to percutaneous with a scalpel or percutaneous with a large-gauge needle. Since April 2022, Vittore Buzzi Children's Hospital has performed 36 percutaneous tenotomies of the Achilles tendon in 24 patients using the percutaneous large-gauge needle technique. When compared to the traditional percutaneous scalpel tenotomy procedure, the use of this procedure has allowed us to reduce operating room time, where we routinely perform this type of surgery to optimize pain control and patient safety during the procedure. The technique has proven to be simple, safe, and effective in obtaining a complete section of the tendon; there have been no reports of excessive bleeding, pseudoaneurysms, or nerve injury. There were no differences in clinical outcome or recurrences of equinus that required reoperation during the average three-month follow-up from the previously used technique.

Anterior vertebral body tethering as a treatment for scoliosis in skeletally immature patients.

A relatively new surgical procedure called Anterior Vertebral Body Tethering (AVBT) is used to treat scoliosis in patients with immature skeletons. It is a growth modulation fusionless system that Crowford and Lenke first described in 2010. We present our observations from 25 patients. Improvement in the mean coronal Cobb angle, from mean 57° preoperative to mean 34° postoperative, was 40%. Additionally, we noted that the mean thoracic hypokyphosis improved from 16° to 24° on average after surgery. Complication rates were 16% and surgical revision rates were 12%. All patients who demonstrated improvement in pain, function, and self-image underwent administration of the SRS-24 questionnaire. These data, according to the literature, show that AVBT is a reliable technique that enables scoliosis correction in skeletally immature patients and maintains that correction while utilizing remaining growth potential to achieve further correction, avoiding spinal fusion, and maintaining spine mobility.

From Codivilla to Ponseti: historical narrative review on clubfoot treatment in Italy.

OBJECTIVE: This narrative review aims to summarize the historical steps of clubfoot treatment in Italy, identifying the centuries-old historical advancement in the deformity management and the most influent involved people. BACKGROUND: Clubfoot, also referred to as congenital talipes equinovarus, is a relatively common deformity that has significative consequences in the child if it is left untreated. Effective and early treatment of clubfoot has been praised as one of the most successful practice of modern pediatric orthopedics and both surgical and conservative techniques have been proposed over the decades. As an example, Codivilla's posteromedial release (PMR) has been known internationally as one of the milestones of surgical treatment. METHODS: The narrative review includes clinical studies and reviews concerning clubfoot that were written in English, German and Italian. As an historical review, no limits of years were considered. The search was performed using PubMed, Google Scholar, Scopus, Medline and Cochrane Library databases up to January 2021. A combination of search terms including 'history', 'clubfoot', 'conservative management', 'Codivilla', 'Ponseti method', 'relapse' was utilized. Particular attention was given to papers written by Italian authors. CONCLUSIONS: Current clubfoot treatment arises from several studies and clinical research over the centuries. Many surgeons, starting from mid-16th century, have studied the deformity trying to find a successful and effective technique to achieve full correction. Italian scientists, surgeons and prestigious institutions surely took part in this process.

Synthetic Cast Material Versus Plaster of Paris for the Treatment of Idiopathic Clubfoot by the Ponseti Protocol: A Comparative Analysis of 136 Feet.

BACKGROUND: Synthetic casting materials have been used as alternatives to plaster of Paris (POP) in the treatment of clubfoot using the Ponseti method. The aim of this study was to evaluate the clinical outcome of children with idiopathic clubfoot managed by the Ponseti method using POP versus semirigid fiberglass (SRF). METHODS: Medical records were retrospectively reviewed for all newborns with idiopathic clubfoot who underwent manipulation and casting by the Ponseti technique between January 2013 and December 2016 at 2 different institutions. In all, 136 consecutive clubfeet were included, of which 68 underwent casting with POP (Group A), and 68 were casted using SRF (Group B). Statistical analysis was performed using the Fisher exact test for categorical variables, and the unpaired t test for quantitative parameters. RESULTS: Mean age at time of first cast was 10 days (range, 3 to 21 d). Mean Pirani score at start of treatment was 4.6 and 4.5 in Groups A and B, respectively. Mean number of casts for each patient in Group A was 5.2 against 4.2 in patients in Group B. Mean follow-up was 63.8 months (range, 42 to 88 mo). In each group, 4 cases of relapse were reported (2.9%). No complications related to cast phase or brace phase were recorded. Shorter duration of cast treatment was recorded in Group B. CONCLUSIONS: Despite its higher cost and slightly lower moldability, the use of SRF in experienced hands showed comparable results in idiopathic clubfeet treated by the Ponseti technique. LEVEL OF EVIDENCE: Level III.

Diagnosis and treatment of flexible flatfoot: results of 2019 flexible flatfoot survey from the European Paediatric Orthopedic Society.

The aim of the study was to evaluate flexible flatfoot (FFF) diagnostic and current therapeutic modalities, as well as treatment expectations, among members of the European Paediatric Orthopaedic Society (EPOS). A 59-questions survey on FFF diagnosis and treatment preferences was distributed to EPOS members. The survey consisted of six sections (1) general clinical parameters; (2) foot aspects; (3) X-ray angles (or lines); (4) expectations; (5) standard clinical assessment; and (6) management options. Descriptive statistics were performed. A total of 93 responses were analysed. In general, clinical parameters, age (91.4% of cases), laxity (81.7%), diffuse pain (84.9%), and pain at the ankle joint (81.7%) were rated as 'average' and 'crucial importance' by the vast majority of respondents. Meary's angle (47.3% of cases), talonavicular coverage (35.5%), and lateral talocalcaneal angle (35.5%) were assessed as main radiological tools in the FFF evaluation. Among respondents, 61.3% rated 'improved ability to walk longer without symptoms' as of 'crucial importance'. Eighty-two percent of the respondents felt less than 10% of patients with FFF are candidates for corrective surgery. Arthroereisis (29.3%) was the most common surgical procedure (16.4% for subtalar and 12.9% for extra-articular arthroereisis, respectively), followed by lateral column lengthening (17.9%) and medializing calcaneal osteotomy (12.3%). There is great variation among respondents in diagnostic and treatment preferences in the management of children with FFF. The results of the EPOS 2019 FFF survey clearly show that large-scale, multicentric, international studies are necessary to elucidate which diagnostic and treatment practices lead to the best outcomes.

Evolution over Time of Leg Length Discrepancy in Patients with Syndromic and Isolated Lateralized Overgrowth.

OBJECTIVE: To provide information on evolution over time of leg length discrepancy in patients with syndromic and isolated lateralized overgrowth. STUDY DESIGN: This retrospective study investigates leg length discrepancy longitudinally in 105 patients with lateralized overgrowth either isolated (n = 37) or associated with Beckwith-Wiedemann spectrum (n = 56) or PIK3CA-related overgrowth spectrum (n = 12). Discrepancy was measured by standard methods and categorized as minor, mild, severe, and critical, based on the thresholds of 1, 2 and 5, respectively. RESULTS: The period of observation from diagnosis was 1.7 ± 2.6 to 9.0 ± 6.0 years. Leg length discrepancy was 11.0 ± 7.2 mm at diagnosis and 17.1 ± 14.4 mm at last visit. Both final leg length discrepancy and change over time were correlated with discrepancy at diagnosis (r2 = 0.45, P < .001 and r2 = 0.05, P = .019, respectively). Among minor leg length discrepancy at diagnosis, 47.5% remained minor, 40.0% become mild, and 12.5% severe. Among patients with discrepancy classified as severe at diagnosis, 84.6% remained severe and 15.4% evolved to critical. The isolated lateralized overgrowth group showed a milder evolution over time compared with Beckwith-Wiedemann spectrum and PIK3CA-related overgrowth spectrum groups. Among patients with Beckwith-Wiedemann, those with paternal chromosome 11 uniparental disomy had more severe leg length discrepancy at diagnosis and evolution over time. CONCLUSIONS: Leg length discrepancy associated with isolated or syndromic lateralized overgrowth tends to worsen with growth and correlates with discrepancy at first observation. Among the genotypic groups, isolated lateralized overgrowth tends to have a milder evolution, whereas Beckwith-Wiedemann spectrum predisposes to a more severe outcome, especially if associated with paternal chromosome 11 uniparental disomy genotype.

Displaced diaphyseal tibia fractures managed by elastic stable intramedullary nailing with or without the use of intraoperative traction table during nail insertion: a comparative analysis of 160 patients.

The use of an orthopedic traction table (OTT) during elastic stable intramedullary nailing (ESIN) in the management of displaced diaphyseal tibia fractures (DTFs) is controversial. The aim of this study was to evaluate the clinical and radiological outcome of children with displaced DTF managed by ESIN with and without the use of an OTT. Medical records were retrospectively reviewed for all pediatric patients sustaining DTF managed by ESIN from 2011 to 2019 at two different institutions. In all, 160 consecutive children with displaced DTF were recorded, of whom 80 underwent operative treatment by ESIN without OTT (group A), and 80 by ESIN with the use of an OTT and skeletal traction (group B). ESIN outcome measure scale, Beaty radiologic criteria and Radiographic Union Scale for Tibia fractures (RUST) score were used to evaluate the results. Average patient age at time of injury was 10.8 years (range 7-15). The mean follow-up was 55.8 months (range 12-96). All complications (2.5%) and poorer results according to ESIN outcome measure scale and Beaty radiological criteria were recorded among children managed with OTT. No complications related to pin insertion for skeletal traction were observed. Mean RUST score, length of surgery and cumulative time of radiation exposure were comparable between the two groups. Children with a displaced DTF treated by ESIN without the use of OTT showed superior results as there are no additional procedures (traction wire insertion and removal) decreased theater time and no complications with similar radiation dose.

Displaced distal femur metaphyseal fractures: clinical and radiographic outcome in children aged 6-16 years treated by elastic stable intramedullary nailing.

Fractures of the distal femur metaphysis (DFM) are rare. The main objective of this study was to retrospectively evaluate the clinical and radiographic outcomes of displaced DFM fractures in children treated by elastic stable intramedullary nailing (ESIN). We retrospectively reviewed 24 DFM fractures, including five pathological fractures secondary to non-ossifying fibroma (mean age, 10.9 years; range, 6-16) who underwent surgical treatment by ESIN. The patients were followed radiographically and clinically on a regular basis. Sixteen boys and eight girls were included in the study. Radiographically, all fractures healed, but five healed with complications. Most of the DFM fractures were transverse (n = 18, 75%), and all patients but two (91.7%) underwent closed reduction and stabilization of the fracture. All the patients were pain-free at their last follow-up. All regained full normal activities, although five patients developed a postoperative complication (20.8%). At the last follow-up visit, all fractures achieved union including the two cases of nonunion; moreover, none of the patients showed any signs of growth arrest or disturbances in radiological and clinical assessment. On the ESIN outcome measure scale, 12/24 patients (50%) had excellent results, 11/24 (45.8%) had good-satisfactory results and 1/24 (4.2%) had poor results. Fracture of the DFM can be challenging due to the relatively short length of the distal fragment, the proximity of the growth plate and the tendency of the distal fragment to displace. Following the surgical principles and understanding the anatomical constraints of the distal femur help to obtain satisfactory clinical and radiological results.

Congenital isolated clubfoot: Correlation between prenatal assessment and postnatal degree of severity.

OBJECTIVE: Since prenatal diagnosis of isolated clubfoot has a false positive rate (FP) of 10%-40%, fetal parameters that might correlate with post-natal confirmation and grade of severity were investigated. METHOD: Retrospective analysis (2013-2019) of cases analysed with three-dimensional multiplanar view. The following data were recorded: the angle between the long axis of foot and lower leg; width, length and width-to-length ratio (W/L) of the foot; tibia length and calf width (T/C) ratio. Severity after birth was assessed using the Pirani classification. RESULTS: Diagnosis was confirmed in 45/53 neonates (84.9%, FP 15%). Values were higher for both angle and W/L in true vs false positive cases (median angle 100.4° versus 69.55°, p <.000; median W/L 0.53 vs 0.45, p = .001), no difference for T/C (3.77 vs 3.48, p = .8). The area under the curve for angle was 0.98 (CI 0.94-1.00), with a diagnostic cut-off of 84.7° (PPV of 100%, NPV of 66.7%). Median Pirani score, available for 33 neonates (73.3%) was 3 (IQR 3-4): only angle correlated with Pirani score (Spearman coefficient 0.36, p = .04) CONCLUSION: Measuring the angle between the foot and lower leg can reduce the FP rate of prenatal congenital clubfoot diagnosis and better predict the need for postnatal treatment.

Jaffe-Campanacci syndrome or neurofibromatosis type 1: a case report of phenotypic overlap with detection of NF1 gene mutation in non-ossifying fibroma.

BACKGROUND: Jaffe-Campanacci syndrome is characterized by multiple non-ossifying fibromas, café-au-lait macules and giant cell granulomas of the jaw. Even if the association between all these peculiar features and neurofibromatosis type 1 have been described, it has not yet been clarified whether Jaffe-Campanacci syndrome represents a distinct entity or it can be regarded as a neurofibromatosis type 1 subtype. CASE PRESENTATION: The patient here described is a young boy, who fulfilled the clinical diagnostic criteria for both syndromes. He had a complex clinical history with café-au-lait macules, axillary and inguinal freckling, multiple non-ossifying fibromas, giant-cell granuloma of the jaw, neurofibromas, plexiform fibroma, ocular Lisch nodules, optic chiasmatic- hypothalamic glioma, pseudarthrosis, scoliosis, short stature, vascular anomalies, seizures. Molecular analysis of the NF1 gene both on blood cells and non-ossifying fibroma's biopsy tissue allowed the detection of a novel variant within the coding region, NM_000267.3:c.2789_2791delATC(p.Tyr930_Pro931delinsSer), with loss of heterozygosity (second hit mutation) in the non-ossifying fibroma. CONCLUSION: This result indicates that every patient with clinical features of Jaffe-Campanacci syndrome should be further evaluated to detect features related to neurofibromatosis type 1 and genetically investigated for mutations in the NF1 gene, since this could lead to a definite diagnosis, but also could clarify and quantify the real genotype-phenotype overlap between neurofibromatosis type 1 and Jaffe-Campanacci syndrome.