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Study design Population-based retrospective cohort study. Objectives The developmental impact of idiopathic clubfoot on children remains underexplored. This study investigates neurodevelopment and physical growth in children with idiopathic clubfoot up to age six. Methods This population-based retrospective cohort study was conducted in South Korea (2009–2019) using linked data from National Health Insurance Service. The cohort included children diagnosed with idiopathic clubfoot and 1:10 exact match of healthy control children. Neurodevelopmental assessments were conducted using the validated Korean Developmental Screening Test, which covers six domains: gross motor skills, fine motor skills, cognition, language, social skills, and self-regulation, for children aged 42–71 months. Secondary outcomes measured were height and body mass index (BMI) Z-score during the same period. Results The cohort comprised 484 children with idiopathic clubfoot and 4,840 matched healthy control children. Children with clubfoot had a higher rate of premature birth (7.44% vs. 3.66%, p  < 0.0001) and lower birth weight (3.08 ± 0.59 kg vs. 3.20 ± 0.46 kg, p  < 0.0001) compared to the healthy control children. In-depth evaluation of all six neurodevelopmental domains showed significant differences in children with clubfoot (overall aOR, 3.671; 95% CI, 2.463–5.471). Children with clubfoot showed a significant height delay (Z score, -1.63 below), but no BMI difference was noted. Conclusions Children with idiopathic clubfoot demonstrated increased risk of neurodevelopmental delays and reduced height compared to their peers. These findings underscore the importance of early recognition and ongoing monitoring by parents and pediatricians.

Background Clubfoot can be treated nonoperatively, most commonly using a Ponseti approach, or surgically, most often with a comprehensive clubfoot release. Little is known about how these approaches compare with one another at longer term, or how patients treated with these approaches differ in terms of foot function, foot biomechanics, or quality-of-life from individuals who did not have clubfoot as a child. Questions/purposes We compared (1) focused physical and radiographic examinations, (2) gait analysis, and (3) quality-of-life measures at long-term followup between groups of adult patients with clubfoot treated either with the Ponseti method of nonsurgical management or a comprehensive surgical release through a Cincinnati incision, and compared these two groups with a control group without clubfoot. Methods This was a case control study of individuals treated for clubfoot at two separate institutions with different methods of treatment between 1983 to 1987. One hospital used only the Ponseti method and the other mainly used a comprehensive clubfoot release. There were 42 adults (24 treated surgically, 18 treated with Ponseti method) with isolated clubfoot along with 48 healthy control subjects who agreed to participate in a detailed analysis of physical function, foot biomechanics, and quality-of-life metrics. Results Both treatment groups had diminished strength and motion compared with the control subjects on physical examination measures; however, the Ponseti group had significantly greater ankle plantar flexion ROM (p < 0.001), greater ankle plantar flexor (p = 0.031) and evertor (p = 0.012) strength, and a decreased incidence of osteoarthritis in the ankle and foot compared with the surgical group. During gait the surgical group had reduced peak ankle plantar flexion (p = 0.002), and reduced sagittal plane hindfoot (p = 0.009) and forefoot (p = 0.008) ROM during the preswing phase compared with the Ponseti group. The surgical group had the lowest overall ankle power generation during push off compared with the control subjects (p = 0.002). Outcome tools revealed elevated pain levels in the surgical group compared with the Ponseti group (p = 0.008) and lower scores for physical function and quality-of-life for both clubfoot groups compared with age-range matched control subjects (p = 0.01). Conclusions Although individuals in each treatment group experienced pain, weakness, and reduced ROM, they were highly functional into early adulthood. As adults the Ponseti group fared better than the surgically treated group because of advantages including increased ROM observed at the physical examination and during gait, greater strength, and less arthritis. This study supports efforts to correct clubfoot with Ponseti casting and minimizing surgery to the joints, and highlights the need to improve methods that promote ROM and strength which are important for adult function. Level of Evidence Level III, prognostic study.

Clubfoot, a congenital deformity affecting 1 to 10 per 1000 live births in India, remains challenging to manage due to high relapse rates following Ponseti method treatment. Conventional foot abduction braces, though essential, often lead to poor compliance because of discomfort and restricted mobility. To address this, a lightweight adjustable clubfoot splint (ACS) is developed for infants up to six months, using a design-for-additive-manufacturing (DFAM) approach to reduce weight, enhance adjustability, and lower cost. The splint allows controlled foot positioning while permitting natural movement, aiming to improve comfort and adherence. Clinical evaluation in 33 infants, supported by computational modeling and simulations, demonstrated a 94% compliance rate and reduced relapse compared with standard braces. While adjustable splints are already available, many remain rigid, costly, and less accessible in resource-limited settings. The present work contributes a DFAM-based, low-cost, clinically validated splint, offering a practical alternative to improve treatment outcomes and long-term management of clubfoot.

This study aimed to estimate the birth prevalence of children born with isolated or non-isolated clubfoot in Sweden using a national clubfoot register. Secondarily we aimed to describe the clubfoot population with respect to sex, laterality, severity of deformity, comorbidity and geographic location. A national register, the Swedish Pediatric Orthopedic Quality register, was used to extract data on newborn children with clubfoot. To calculate the birth prevalence of children with isolated or non-isolated clubfoot between 1.sup.st of January 2016 and 31.sup.st of December 2019, we used official reports of the total number of Swedish live births from the Swedish Board of Statistics. The Pirani score and predefined signs of atypical clubfoot were used to classify clubfoot severity at birth. In total 612 children with clubfoot were identified. Of these, 564 were children with isolated clubfoot, generating a birth prevalence of 1.24/1000 live births (95% confidence interval 1.15-1.35). About 8% were children with non-isolated clubfoot, increasing the birth prevalence to 1.35/1000 live births (95% confidence interval 1.25-1.46). Of the children with isolated clubfoot, 74% were boys and 47% had bilateral involvement. The children with non-isolated clubfoot had more severe foot deformities at birth and a greater proportion of clubfeet with atypical signs compared with children with isolated clubfoot. We have established the birth prevalence of children born with isolated or non-isolated clubfoot in Sweden based on data from a national register. Moreover, we have estimated the number of children born with atypical clubfeet in instances of both isolated and non-isolated clubfoot. These numbers may serve as a baseline for expected birth prevalence when planning clubfoot treatment and when evaluating time trends of children born with clubfoot.

This study aimed to estimate the birth prevalence of children born with isolated or non-isolated clubfoot in Sweden using a national clubfoot register. Secondarily we aimed to describe the clubfoot population with respect to sex, laterality, severity of deformity, comorbidity and geographic location. A national register, the Swedish Pediatric Orthopedic Quality register, was used to extract data on newborn children with clubfoot. To calculate the birth prevalence of children with isolated or non-isolated clubfoot between 1.sup.st of January 2016 and 31.sup.st of December 2019, we used official reports of the total number of Swedish live births from the Swedish Board of Statistics. The Pirani score and predefined signs of atypical clubfoot were used to classify clubfoot severity at birth. In total 612 children with clubfoot were identified. Of these, 564 were children with isolated clubfoot, generating a birth prevalence of 1.24/1000 live births (95% confidence interval 1.15-1.35). About 8% were children with non-isolated clubfoot, increasing the birth prevalence to 1.35/1000 live births (95% confidence interval 1.25-1.46). Of the children with isolated clubfoot, 74% were boys and 47% had bilateral involvement. The children with non-isolated clubfoot had more severe foot deformities at birth and a greater proportion of clubfeet with atypical signs compared with children with isolated clubfoot. We have established the birth prevalence of children born with isolated or non-isolated clubfoot in Sweden based on data from a national register. Moreover, we have estimated the number of children born with atypical clubfeet in instances of both isolated and non-isolated clubfoot. These numbers may serve as a baseline for expected birth prevalence when planning clubfoot treatment and when evaluating time trends of children born with clubfoot.

The diverse nature and timing of a clubfoot relapse pose challenges for early detection. A relapsed clubfoot typically involves a combination of deformities affecting a child’s movement pattern across multiple joint levels, formed by a complex kinematic chain. Machine learning algorithms have the capacity to analyse such complex nonlinear relationships, offering the potential to train a model that assesses whether a child has relapsed clubfoot based on their movement pattern. Hence, this study aimed to explore to what extent biomechanical data collected with three-dimensional movement analysis can be used to classify children with relapsed clubfoot from children with non-relapsed clubfoot. The findings demonstrated the potential of subject classification based on kinematic movement patterns, where combining dynamic activities improves sensitivity in distinguishing children with relapsed clubfoot from children with non-relapsed clubfoot. Moreover, the study highlights biomechanical features that should be considered during clinical follow-up of children with clubfoot. This might aid early identification and treatment of relapsed clubfoot, which is expected to prevent the necessity of surgical treatment in these young patients. However, for future application of machine learning classification in clinical practice, a larger subject population will be necessary to develop a generalizable and robust model.

Congenital clubfoot is a complex musculoskeletal deformity, in which a stiff, contracted tissue forms in the medial part of the foot. Fibrotic changes are associated with increased collagen deposition and lysyl oxidase (LOX)-mediated crosslinking, which impair collagen degradation and increase the tissue stiffness. First, we studied collagen deposition, as well as the expression of collagen and the amount of pyridinoline and deoxypyridinoline crosslinks in the tissue of relapsed clubfoot by immunohistochemistry, real-time PCR, and enzyme-linked immunosorbent assay (ELISA). We then isolated fibroblast-like cells from the contracted tissue to study the potential inhibition of these processes in vitro. We assessed the effects of a LOX inhibitor, β-aminopropionitrile (BAPN), on the cells by a hydroxyproline assay, ELISA, and Second Harmonic Generation imaging. We also evaluated the cell-mediated contraction of extracellular matrix in 3D cell-populated collagen gels. For the first time, we have confirmed significantly increased crosslinking and excessive collagen type I deposition in the clubfoot-contracted tissue. We successfully reduced these processes in vitro in a dose-dependent manner with 10–40 µg/mL of BAPN, and we observed an increasing trend in the inhibition of the cell-mediated contraction of collagen gels. The in vitro inhibitory effects indicate that BAPN has good potential for the treatment of relapsed and resistant clubfeet.

BackgroundClubfoot, presenting as a rigid inward and downward turning of the foot, is one of the most common congenital musculoskeletal anomalies. The aetiology of clubfoot is poorly understood and variants in known clubfoot disease genes account for only a small portion of the heritability.MethodsExome sequence data were generated from 1190 non-syndromic clubfoot cases and their family members from multiple ethnicities. Ultra-rare variant burden analysis was performed comparing 857 unrelated clubfoot cases with European ancestry with two independent ethnicity-matched control groups (1043 in-house and 56 885 gnomAD controls). Additional variants in prioritised genes were identified in a larger cohort, including probands with non-European ancestry. Segregation analysis was performed in multiplex families when available.ResultsRare variants in 29 genes were enriched in clubfoot cases, including PITX1 (a known clubfoot disease gene), HOXD12, COL12A1, COL9A3 and LMX1B. In addition, rare variants in posterior HOX genes (HOX9–13) were enriched overall in clubfoot cases. In total, variants in these genes were present in 8.4% (100/1190) of clubfoot cases with both European and non-European ancestry. Among these, 3 are de novo and 22 show variable penetrance, including 4 HOXD12 variants that segregate with clubfoot.ConclusionWe report HOXD12 as a novel clubfoot disease gene and demonstrate a phenotypic expansion of known disease genes (myopathy gene COL12A1, Ehlers-Danlos syndrome gene COL9A3 and nail-patella syndrome gene LMX1B) to include isolated clubfoot.

Background Tibialis anterior tendon transfer surgery forms a part of Ponseti management for children with congenital talipes equinovarus who, after initial correction, present with residual dynamic supination. Although retrospective studies support good outcomes, prospective longitudinal studies in this population are lacking. Questions/purposes We assessed strength, plantar loading, ROM, foot alignment, function, satisfaction, and quality of life in patients with clubfoot that recurred after Ponseti casting who met indications for tibialis anterior tendon transfer surgery, and compared them with a group of patients with clubfoot treated with casting but whose deformity did not recur (therefore who were not indicated for tibialis anterior tendon transfer surgery). Methods Twenty children with idiopathic congenital talipes equinovarus indicated for tibialis anterior tendon transfer surgery were recruited. Assessment at baseline (before surgery), and 3, 6, and 12 months (after surgery) included strength (hand-held dynamometry), plantar loading (capacitance transducer matrix platform), ROM (Dimeglio scale), foot alignment (Foot Posture Index © ), function and satisfaction (disease-specific instrument for clubfoot), and quality of life (Infant Toddler Quality of Life Questionnaire™). Outcomes were compared with those of 12 age-matched children with congenital talipes equinovarus not indicated for tibialis anterior tendon transfer surgery. Followup was 100% in the control group and 95% (19 of 20) in the tibialis anterior transfer group. Results At baseline, the tibialis anterior tendon transfer group had a significantly worse eversion-to-inversion strength ratio, plantar loading, ROM, foot alignment, and function and satisfaction. At 3 months after surgery, eversion-to-inversion strength, plantar loading, and function and satisfaction were no longer different between groups. Improvements were maintained at 12 months after surgery (eversion-to-inversion strength mean difference, 8% body weight; 95% CI, −26% to 11%; p = 0.412; plantar loading, p > 0.251; function and satisfaction, p = 0.076). ROM remained less and foot alignment more supinated in the tibialis anterior tendon transfer group between baseline and followup (p < 0.001, p < 0.001). Conclusions Tibialis anterior tendon transfer surgery was an effective procedure, which at 12-month followup restored the balance of eversion-to-inversion strength and resulted in plantar loading and function and satisfaction outcomes similar to those of age-matched children with congenital talipes equinovarus who after Ponseti casting were not indicated for tibialis anterior tendon transfer. Level of Evidence Level III, therapeutic study. See Instructions for Authors for a complete description of levels of evidence.