Background/Objectives: Skeletal dysplasias are a heterogeneous group of rare genetic disorders with diverse and overlapping clinical presentations, posing diagnostic challenges even for experienced clinicians. With the increasing availability of artificial intelligence (AI) in healthcare, large language models (LLMs) offer a novel opportunity to assist in rare disease diagnostics. This study aimed to compare the diagnostic accuracy of two advanced LLMs, ChatGPT (version GPT-4) and DeepSeek, with that of a clinical expert panel in a cohort of pediatric patients with genetically confirmed skeletal dysplasias. Methods: We designed a prospective vignette-based diagnostic benchmarking study including 45 children with confirmed skeletal dysplasias from two tertiary centers. Both LLMs were prompted to provide primary and differential diagnoses based on standardized clinical case vignettes. Their outputs were compared with those of two human experts (a pediatric endocrinologist and a pediatric orthopedic surgeon), using molecular diagnosis as the gold standard. Results: ChatGPT and DeepSeek achieved a comparable diagnostic top-3 accuracy (62.2% and 64.4%, respectively), with a high intermodel agreement (Cohen’s κ = 0.95). The expert panel outperformed both models (82.2%). While LLMs performed well on more common disorders, they struggled with ultra-rare and multisystemic conditions. In one complex case missed by experts, the DeepSeek model successfully proposed the correct diagnosis. Conclusions: LLMs offer a complementary diagnostic value in skeletal dysplasias, especially in under-resourced medical settings. Their integration as a supportive tool in multidisciplinary diagnostic workflows may enhance early recognition and reduce diagnostic delays in rare disease care.

Background and Objectives: Idiopathic anterior knee pain is a common condition in adolescents and is mostly of unknown cause. The aim of this study was to examine the influence of the Q-angle and muscle strength on idiopathic anterior knee pain. Materials and Methods: Seventy-one adolescents (41 females and 30 males) diagnosed with anterior knee pain were included in this prospective study. The extensor strength in the knee joint and the Q-angle were monitored. The healthy extremity was used as a control. The Student’s paired sample t-test was applied for testing the difference. Statistical significance was set at 0.05. Results: There was no statistically significant difference in the Q-angle value between the idiopathic AKP and the healthy extremity (p > 0.05) within the entire sample. A statistically significant higher Q-angle of the idiopathic AKP knee (p < 0.05) was obtained in the female subgroup. No statistically significant difference (p > 0.05) was found in the male subgroup. Within the male subgroup, the strength of the extensors within the knee joint of the healthy extremity had statistically significant higher values than the strength of these muscles in the affected extremity (p < 0.05). Conclusion: A greater Q-angle is a risk factor linked to anterior knee pain within the female population. Decreased muscle strength of knee joint extensors is a risk factor linked to anterior knee pain in both sex subgroups.

Background and Objectives: A bone–patellar tendon–bone (BTB) autograft in anterior cruciate ligament reconstruction (ACLR) is still considered the gold standard among many orthopedic surgeons, despite anterior knee pain and kneeling pain being associated with bone defects at the harvest site. Bioregenerative products could be used to treat these defects, perhaps improving both the postoperative discomfort and the overall reconstruction. Materials and methods: During a year-long period, 40 patients were enrolled in a pilot study and divided into a study group, in which bone defects were filled with Vivostat^® PRF (platelet-rich fibrin), and a standard group, in which bone defects were not filled. The main outcome was a decrease in the height and width of the bone defects, as determined by magnetic resonance imaging on the control exams during the one-year follow-up. The secondary outcomes included an evaluation of kneeling pain, measured with a visual analog scale (VAS), and an evaluation of the subjective knee scores. Results: The application of Vivostat^® PRF resulted in a more statistically significant reduction in the width of the defect compared with that of the standard group, especially at 8 and 12 months post operation (p < 0.05). Eight months following the surgery, the study group’s anterior knee pain intensity during kneeling was statistically considerably lower than that of the standard group (p < 0.05), and the statistical difference was even more obvious (p < 0.01) at the last follow-up. Each control examination saw a significant decrease in pain intensity in both the groups, with the values at each exam being lower than those from the prior exam (p < 0.01). A comparison of subjective functional test results 12 months post operation with the preoperative ones did not prove a statistically significant difference between the groups. Conclusions: The use of Vivostat^® PRF reduces kneeling pain and accelerates the narrowing of bone defects after ACLR with a BTB graft, but without confirmation of its influence on the subjective knee score.

Introduction: Acute hematogenous osteomyelitis (AHO) usually occurs in the first two decades of life. Evidence shows that 50% of patients with AHO are younger than five years. This infection typically affects the metaphyseal region of long tubular bones, whereas the fibula is rarely involved. Staphylococcus aureus is the causative agent of AHO in the majority of cases, while Escherichia coli is isolated rather uncommonly beyond the neonatal period. Case Presentation: Herein, we describe the case of an adolescent girl who was treated medically and surgically for AHO with an unusual location in the proximal fibula, caused by E. coli. The source of the causative agent remained unknown after the patient had been evaluated for possible urinary tract infection and underlying immune system defect. Conclusions: The fibula is a rare anatomic location for AHO, and such cases may pose a diagnostic challenge. Lack of response to empiric antibiotic treatment in patients with AHO may indicate the involvement of an uncommon pathogen, which is not susceptible to standard empiric antimicrobials aimed to target S. aureus as the most likely pathogen. In such instances, prompt surgical intervention can help determine the causative pathogen and optimize antimicrobial treatment.

Introduction/Aim: Flexible flatfoot (FFF) is one of the most common skeletal deformities in the pediatric population, especially in preadolescence. This retrospective observational study evaluates results of a calcaneal subtalar extra-articular arthrodesis (subtalar arthroereisis) with one cannulated screw for the treatment of painful flexible flatfoot in children, after previously failed conservative treatment. Material and Methods: Preadolescent and adolescent pediatric patients were observed at the Department of Pediatric Orthopedic Surgery. The study included 28 feet of 15 children (5 girls and 10 boys) during a 6-year period, from 2016 to 2021 (average 36 months). The average age was 11.46 years (range 8-15 years). We performed the same operative technique under fluoroscopy for all patients. Radiographic parameters were taken before, after operative treatment, and after hardware removal. The following radiological parameters were measured: talo-calcanear (TC), talo-navicular (TN), talo-first metatarsal bone (T1MT) and calcanear pitch (CP) angles, in the anteroposterior and/or lateral views. Functional outcomes (extension and eversion of the foot) before surgery and after hardware removal were compared. Results: After operative treatment, the midfoot radiographic parameters were not statistically significantly altered; however, the subtalar joint and forefoot were statistically significantly improved: both radiologically and clinically. The range of extension and eversion of the foot were remarkably reduced without disturbing the morphological and functional aspects of the talocrural and subtalar joints. Conclusion: Extra-articular arthrodesis, using a cannulated screw is a minimally invasive technique, represents an optimal method for the operative treatment of symptomatic flexible flatfoot in children. This technique is simple, efficient and does not disrupt the anatomy of the foot.