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In myelomeningocele children, the incidence of equinocavovarus feet, considering all foot deformities, is 25–36%. Treatment options consist of extensive surgeries resulting in rigid feet with better alignment. Ponseti method expanded its indications since the early 2000s, including myelodysplastic feet. However, the literature on success, recurrence, and complication rates remains sparse. Therefore, a systematic review was performed in Pubmed, Scopus, Embase, Lilacs, and Web of Science databases on October 28, 2020 and July 11, 2023. Normality and sample proportion analysis with 95% confidence intervals were estimated. Risks of bias and the quality of studies were also evaluated. Success, recurrence, and complication rates were evaluated and analyzed. Eight case series were identified with 101 patients (176 feet). According to this model, the initial success rate was 93% (95% CI = 0.88–0.96) with I2 = 0%, and the final success was 63% (at 4.9 years of follow-up). Recurrence rate was 62% (95% CI = 50–72), and complication rate was 29% (95% CI = 22–38). Ponseti method for myelodysplastic clubfoot is effective (93% of initial correction). However, there are high complication and recurrence rates, and longer follow-up is needed to identify recurrences and urge for early intervention. Foot abduction brace should be used to avoid recurrences. [ABSTRACT FROM AUTHOR]

Background: The treatment results of the Ponseti method for arthrogrypotic clubfoot have been described in only a few case series. Further evaluations are necessary. Methods: Children from two German paediatric orthopaedic hospitals with arthrogryposis-associated clubfoot treated with the Ponseti method between 2004 and 2011 and who were at least five years of age at their last follow-up were retrospectively evaluated. The endpoints were the clinical foot position, necessary surgeries during the follow-up period and radiological constellations. A comprehensive literature review was conducted after a systematic literature search. Results: Seventeen patients (47% with amyoplasia [AP] and 53% with distal arthrogryposis [DA]) met the inclusion criteria. Thirty-one feet were evaluated. The period between the treatment start and the last follow-up examination covered 8.9 ± 2.5 years. After the last cast removal within the initial Ponseti cast series, 74% of the clinical results were good to excellent. However, the clinical outcomes in the patients with AP were significantly worse. Overall, in 23 feet (74%), at least one major surgery at the age of 2.9 ± 2.2 years was necessary during the clinical course. Major surgeries were much more frequent on the feet of the patients with AP than with DA. Lateral X-rays showed normal age-appropriate radiological angles in 4% of the feet, hindfoot equinus in 19%, under-corrected hindfoot in 44%, under-corrected clubfoot in 26% and rocker bottom deformity in 7%. The radiological residual deformities in AP were much more severe than in DA (p = 0.042). Most of the studies reviewed (11 case series, 144 patients) reported high initial clinical correction rates, followed by high recurrence rates and the need for further surgeries. Conclusion: About a quarter of the arthrogrypotic patients benefited from the Ponseti therapy without further major surgery. However, the clinically observed high initial correction rate after Ponseti therapy of arthrogrypotic clubfoot was not accompanied by a correction of the bony foot position in the X-rays. The feet of the patients with DA had better outcomes than those of the patients with AP. Therefore, in outcome studies, a clear distinction between patients with AP and those with DA is necessary. [ABSTRACT FROM AUTHOR]

Background/Objectives: Idiopathic clubfoot is a complex pediatric foot deformity. The Ponseti technique is widely regarded as the standard for correcting deformities, and treatment compliance is essential for preventing relapse. Examining psychosocial effects on parents and/or children during clubfoot treatment provides valuable insights for improving compliance. This scoping review will map the existing literature on the psychological and social effects experienced by parents and/or children with idiopathic clubfoot. It also aims to examine the assessment tools used to measure these impacts and identify factors influencing treatment compliance. Methods: This review will adhere to the Joanna Briggs Institute (JBI) guidelines for scoping reviews. The search will include databases such as Scopus, Web of Science, EBSCOhost, MEDLINE, and PsycINFO and focus on studies published in the last 10 years. This review will include quantitative, qualitative, and mixed-method studies that investigate the psychological and social effects experienced by parents or affected children of any age with idiopathic clubfoot. Reporting will follow the Preferred Reporting Items for Systematic Reviews and Meta-Analyses extension for Scoping Reviews (PRISMA-ScR) extension guidelines. The screening and data extraction process will involve two independent reviewers. The analysis will be descriptive and qualitative. Results: The findings will be presented in tables and a narrative summary. Conclusion: This review may guide health practitioners in developing evidence-based interventions to improve treatment adherence. [ABSTRACT FROM AUTHOR]

Background: a-mannosidosis (MAN) is a rare genetic condition that segregates in an autosomal recessive manner. Lack of lysosomal alpha-mannosidase is the underlying cause of the disease. Symptoms of the disease gradually worsen with the age. Newborns are usually asymptomatic, however, some cases are reported with either congenital ankle equinus or hydrocephalus during the first year. Primary symptoms are characterized by immune deficiency, hearing loss, skeletal abnormalities, progressive mental, motor and speech functions' impairment followed by facial asymmetry. Methods: We studied two Saudi families (A and B) with bilateral moderate hearing loss (family A) and clubfoot with glaucoma (family B). Clinical diagnosis was not reached based on phenotype of patients. Therefore, hypothesis-free whole exome sequencing (WES) was performed on DNA samples from affected individuals of both the families, followed by Sanger sequencing and segregation analysis to validate the segregation of the identified variant. Furthermore, 3D protein modelling was performed to determine the in silico effects of the identified variant on the protein structure and function. Results: Re-examination of clinical features revealed that the patients in family A have speech delay and hearing impairment along with craniostenosis, whereas the patients from family B have only clubfoot and glaucoma. WES identified a well known pathogenic homozygous frameshift variant (NM_000528.4: c.2402dupG; p.S802fs*129) in MAN2B1 in both the families. Sanger sequencing confirmed the segregation of the variant with the disease phenotype in both the families. 3D structural modeling of the MAN2B1 protein revealed significant changes in the tertiary structure of the mutant protein, which would affect enzyme function. This report presents a new case where partial and novel a-mannosidosis phenotypes are associated with a MAN2B1 gene pathogenic variant. Conclusion: Patients in both the families have manifested peculiar set of clinical symptoms associated with a-mannosidosis. Family A manifested partial clinical symptoms missing several characteristic features like intellectual disability, dysmorphic features, neurological and abdominal manifestations, whereas family B has no reported clinical symptoms related to a-mannosidosis except the novel symptoms including club foot and glaucoma which has never been reported earlier The current findings support the evidence that biallelic variants of MAN2B1 are associated with new clinical variants of a-mannosidosis. [ABSTRACT FROM AUTHOR]

This report describes a male skeleton recovered from the Samnite necropolis of Barrea (Abruzzo, 8th–5th century BCE), showing one malformed foot consistent with the diagnosis of unilateral congenital clubfoot associated with tarsal and tarsometatarsal coalitions in the same foot. This finding is particularly noteworthy because tarsal coalitions in congenital equinovarus foot have rarely been reported in medical literature, and to our knowledge, never in the paleopathological record. The recovery of this individual with impaired locomotion from a grave containing a complete array of weapons and armor sheds new light on the occupant's identity and social attitudes toward disabled people in Samnite society. In mortuary archaeology, the correlation between warrior burials and social identity in life of the dead in ancient times is a widely debated issue. Some scholars assert that the weapons in these graves suggest the existence of a warrior class; others propose that the military items of the burial assemblage indicate a high social status or significant power. This study suggests that in Samnite society, physical impairment did not prevent someone from being honored as a warrior or high‐status community member. [ABSTRACT FROM AUTHOR]

Background Methods Results Conclusion Equinovarus deformity correction was performed by soft tissue release and bone deformity correction, and tendon transfer to maintain deformity correction. Because of the high complication rate of tendon fixation methods, partial or total anterior tibial tendon or posterior tibial tendon transfer to the peroneus tertius tendon was reported. The purpose of this study was (i) to review the results of this tendon transfer technique after release and correction of talipes equinovarus, and (ii) to analyze the complication of this technique.Between February 2017 and May 2022, 176 patients (210 feet) with equinus and/or varus foot and ankle deformities underwent anterior or posterior tibial tendon transfer to the peroneus tertius in our institute. Preoperative and postoperative foot and ankle range of motion (passive and active) were checked. The postoperative radiographic assessment included antero‐posterior (AP), lateral, and hindfoot alignment radiographs. Preoperative and postoperative lateral tibio‐talar, talo‐calcaneal, talo‐first metatarsal, tibial‐sole angles, hindfoot alignment, and anterior subluxation of the talus were checked. The American Orthopedic Foot and Ankle Society (AOFAS) ankle‐hindfoot scale, and visual analog scale (VAS) were used to assess pain. Paired Student's t‐test was used to compare the clinical scores and radiographic angles before the operation and at the last follow‐up.The mean age of the patients was 23.27 ± 13.44 years (range, 3–69 years). The mean follow‐up time was 25.56 ± 16.37 months (range, 12–68 months). There were significant differences between the preoperative and postoperative measurements of the lateral tibio‐talar angle, lateral talo‐calcaneal angle, lateral talo‐first metatarsal angle, lateral tibial‐sole angle, and hindfoot alignment (p < 0.001). There was significant difference between the preoperative and postoperative AOFAS and VAS scores (p < 0.001). The early complications included infection in one patient, skin necrosis in two patients, and plantar numbness in three patients. The late complications included pin infection in three patients, tibio‐talar joint compression in four patients, forefoot pain in two patients, toe flexion in two patients, and plantar numbness in one patient. There were three cases of complications (1.43%) related to the transferred tendons.Tibialis anterior or posterior tendon transfer to the peroneus tertius is a safe and effective method for equinovarus deformity correction. It yielded excellent outcomes that produced high patient satisfaction and few complications. [ABSTRACT FROM AUTHOR]

This paper aims to review the various surgical techniques for gastrocnemius–soleus recession and Achilles tendon lengthening, with a special focus on the treatment of clubfoot and cerebral palsy (CP) equinus contracture. This descriptive review article comprehensively explores different techniques for gastrocnemius recession, including the Hoke percutaneous triple hemisection, Baker's method (Tongue-in-Groove Gastrocnemius–Soleus Recession), the Vulpius method, the Baumann procedure, and the Strayer procedure (Gastrocnemius Recession). The objective is to present a detailed analysis of these methods, covering their indications, procedural nuances, relevance in clinical practice, and outcomes. [ABSTRACT FROM AUTHOR]

Purpose: Idiopathic clubfoot (ICF) involves structural abnormalities in the lower extremities. Approximately half of patients have unilateral ICF, which could be due to differences in limb formation. The contralateral unaffected foot may have subclinical ICF. The objectives were to compare ankle and foot kinematics and pedobarography findings between the unaffected foot of patients with unilateral ICF and controls. Methods: Eleven children with unilateral ICF (11 unaffected feet, 11.7 ± 3.8 years) and 15 age-matched controls (30 control feet, 11.1 ± 3.0 years) were enroled. Five complete gait trials were performed. Data were collected using ten cameras and a two m long Footscan system and compared between groups using the Wilcoxon rank sum test. Results: All children with ICF underwent the selective soft tissue release procedure. The unaffected feet showed limited ranges in inversion-eversion and dorsiflexion-plantar flexion on kinematic analysis. There was a delay in landing time in all regions of the foot during heel rise and propulsion. The peak time was achieved significantly later in the unaffected feet compared to the controls. Although plantar pressure parameters were comparable, unaffected feet showed a larger contact area in the midfoot region. Conclusions: Gait data on the unaffected foot in unilateral ICF patients do not correspond to those of controls despite an indistinguishable clinical appearance. This could be due to the effect of treatment, the process of foot development, or a combination. The relationship between genetics and gait deviation in patients with unilateral ICF needs further evaluation. The unaffected foot should receive similar attention during follow-up. [ABSTRACT FROM AUTHOR]

Purpose: Review the literature and describe the complications associated with each of the anterior tibial tendon transfer (ATTT) techniques described. Methods: A systematic review of the literature was performed with the keywords ''clubfoot", ''Ponseti" and ''anterior tibial". Studies in patients with clubfoot recurrence, who underwent ATTT, whose method of tendon fixation was different from the classical method, were included. Results: Six studies were included in this systematic review, which described multiple techniques for tibialis anterior fixation: bone anchors, interference screws, endobotton, K-wires, transosseous suture, and suture to the plantar fascia. In the papers that described postoperative complications, no major complications were reported, however the samples are generally small. Conclusion: Several options have now emerged for tendon fixation in tendon transfers around the foot and ankle, including ATTT for treatment of relapsed clubfoot. To our knowledge this is the first paper that questioned the potential complications associated with the use of these new techniques. Due to the scarcity of published works in favor of other fixation methods, we believe that the traditional method is the optimal one for the transfer of the tendon of the tibialis anterior muscle. [ABSTRACT FROM AUTHOR]

Background: The ultra-rare autosomal recessive genetic disorder, You-Hoover-Fong Syndrome (YHFS), is caused by defects in the TELO2 gene and is characterized by intellectual disability, developmental delay, and ocular impairments. This study aims to contribute to a better understanding of YHFS by reviewing previous cases and introducing a novel variant in a new case. Methods: Whole exome sequencing (WES) was conducted on the proband to identify genetic variants, and Sanger sequencing was used to confirm variants within the family. This article presents a comprehensive collection of reported cases of YHFS, incorporating both molecular and clinical data, through an extensive literature search and analysis of English-language studies published until June 2023. Results: Using WES, a novel homozygous missense variant, c.1799A > G (p. Tyr600Cys), was identified in the TELO2 gene in a 4-year-old Iranian male patient. Novel clinical features, including choanal atresia and clubfoot, were also identified. A comprehensive literature review identified 27 patients with YHFS, with 20 variants in the TELO2 gene. Missense pathogenic variants were the most common type of pathogenic variant, and the most common features were microcephaly and intellectual impairment. Conclusion: This study presents the first case of pathogenic variants in TELO2 gene in Iran, expands the genotypic and phenotypic spectrum of YHFS and contributes to the growing body of literature pertaining to YHFS. Furthermore, our findings highlight the importance of genetic testing for non-consanguineous carrier screening, as compound heterozygosity may be a significant factor in the development of YHFS. Further research is needed to clarify the molecular mechanisms underlying YHFS pathogenesis. [ABSTRACT FROM AUTHOR]

Background: Residual forefoot adduction deformity refers to the persistent inward deviation of the forefoot in patients following corrective procedures for idiopathic clubfoot, with reported incidence rates varying up to 95%. The aim of this work was to evaluate the clinical and radiological results of combined cuboid-cuneiform osteotomy for correcting the residual forefoot adduction deformity of idiopathic clubfoot patients. Methods: Eighteen cases (feet) in 13 children with residual forefoot adduction deformity were treated between October 2022 and September 2023 at the Orthopedic Department of Zagazig University Hospital in Egypt. The children were followed up for at least six months, and all cases underwent a combined cuboid-cuneiform osteotomy with soft tissue releases. Measurements including the anterior talocalcaneal angle (TCA1), anterior talo-first metatarsal angle (TFMA1), calcaneo-fifth metatarsal angle (CFMA), lateral talocalcaneal angle (TCA2), and lateral talo-first metatarsal angle (TFMA2) were taken pre-operatively and post-operatively. Results: The residual forefoot adduction deformities were evaluated clinically and radiologically according to a scoring system modified by Bensahel et al. and supported by the International Clubfoot Society. Based on the total calculated score, the results were categorized into four levels: excellent, good, fair, and poor. Fifty percent of the treated feet had excellent results, 33% had good results, 11% had fair results, and 6% had poor results. Despite nonsignificant complications, 16 patients expressed satisfaction with the operation. Conclusion: Combined cuboid-cuneiform osteotomy is a safe and effective option for correcting residual forefoot adduction deformity in idiopathic clubfoot. It surpasses other bone surgeries for adduction and rotational deformities, resulting in a straight plantigrade foot. [ABSTRACT FROM AUTHOR]

Purpose: Clubfoot is a common disabling condition that is prevalent across all populations. Approximately, one out of 750 children globally suffers from clubfoot, and around 150,000 to 200,000 children are born with clubfoot every year with 80% of the cases occurring in developing countries. Clubfoot can result in mobility impairments when not properly managed and researchers have argued that understanding knowledge and perceptions are key components to early identification and effective management of clubfoot. The study explored the barriers to clubfoot management from the perspectives of caregivers and healthcare providers in Duayaw Nkwanta, Ghana. Methods: A total of 26 participants made up of 22 caregivers of children with clubfoot and six healthcare providers were purposively sampled for the study guided by a set of inclusion and exclusion criteria. Qualitative data were collected using a semi-structured interview guide through in-depth face-to-face interviews. Interviews were transcribed and analyzed thematically and presented as findings. Results: High cost of treatment, long travel distance, long hours spent at the treatment facility, non-availability of clubfoot treatment services, late reporting of clients for treatment, and non-compliance of parents/caregivers with treatment protocols were identified as the barriers to effective management of clubfoot. Conclusion: These findings have substantial implications for current interventions to effectively manage clubfoot in Ghana. [ABSTRACT FROM AUTHOR]

Abstract Background The treatment results of the Ponseti method for arthrogrypotic clubfoot have been described in only a few case series. Further evaluations are necessary. Methods Children from two German paediatric orthopaedic hospitals with arthrogryposis-associated clubfoot treated with the Ponseti method between 2004 and 2011 and who were at least five years of age at their last follow-up were retrospectively evaluated. The endpoints were the clinical foot position, necessary surgeries during the follow-up period and radiological constellations. A comprehensive literature review was conducted after a systematic literature search. Results Seventeen patients (47% with amyoplasia [AP] and 53% with distal arthrogryposis [DA]) met the inclusion criteria. Thirty-one feet were evaluated. The period between the treatment start and the last follow-up examination covered 8.9 ± 2.5 years. After the last cast removal within the initial Ponseti cast series, 74% of the clinical results were good to excellent. However, the clinical outcomes in the patients with AP were significantly worse. Overall, in 23 feet (74%), at least one major surgery at the age of 2.9 ± 2.2 years was necessary during the clinical course. Major surgeries were much more frequent on the feet of the patients with AP than with DA. Lateral X-rays showed normal age-appropriate radiological angles in 4% of the feet, hindfoot equinus in 19%, under-corrected hindfoot in 44%, under-corrected clubfoot in 26% and rocker bottom deformity in 7%. The radiological residual deformities in AP were much more severe than in DA (p = 0.042). Most of the studies reviewed (11 case series, 144 patients) reported high initial clinical correction rates, followed by high recurrence rates and the need for further surgeries. Conclusion About a quarter of the arthrogrypotic patients benefited from the Ponseti therapy without further major surgery. However, the clinically observed high initial correction rate after Ponseti therapy of arthrogrypotic clubfoot was not accompanied by a correction of the bony foot position in the X-rays. The feet of the patients with DA had better outcomes than those of the patients with AP. Therefore, in outcome studies, a clear distinction between patients with AP and those with DA is necessary.

This paper aims to review the various surgical techniques for gastrocnemius–soleus recession and Achilles tendon lengthening, with a special focus on the treatment of clubfoot and cerebral palsy (CP) equinus contracture. This descriptive review article comprehensively explores different techniques for gastrocnemius recession, including the Hoke percutaneous triple hemisection, Baker’s method (Tongue-in-Groove Gastrocnemius–Soleus Recession), the Vulpius method, the Baumann procedure, and the Strayer procedure (Gastrocnemius Recession). The objective is to present a detailed analysis of these methods, covering their indications, procedural nuances, relevance in clinical practice, and outcomes.

Abstract Purpose Review the literature and describe the complications associated with each of the anterior tibial tendon transfer (ATTT) techniques described. Methods A systematic review of the literature was performed with the keywords ‘’clubfoot’’, ‘’Ponseti’’ and ‘’anterior tibial’’. Studies in patients with clubfoot recurrence, who underwent ATTT, whose method of tendon fixation was different from the classical method, were included. Results Six studies were included in this systematic review, which described multiple techniques for tibialis anterior fixation: bone anchors, interference screws, endobotton, K-wires, transosseous suture, and suture to the plantar fascia. In the papers that described postoperative complications, no major complications were reported, however the samples are generally small. Conclusion Several options have now emerged for tendon fixation in tendon transfers around the foot and ankle, including ATTT for treatment of relapsed clubfoot. To our knowledge this is the first paper that questioned the potential complications associated with the use of these new techniques. Due to the scarcity of published works in favor of other fixation methods, we believe that the traditional method is the optimal one for the transfer of the tendon of the tibialis anterior muscle.

Objective: We present prenatal diagnosis of de novo 10p12.1p11.23 microdeletion encompassing the WAC gene in a fetus associated with bilateral hydronephrosis on prenatal ultrasound. Case Report: A 40-year-old, gravida 2, para 1, woman underwent amniocentesis at 17 weeks of gestation because of advanced maternal age. Amniocentesis revealed a karyotype of 46,XY. Level II ultrasound at 22 weeks of gestation revealed bilateral hydronephrosis and right clubfoot. At 23 weeks of gestation, repeat amniocentesis revealed the result of arr [GRCh37] 10p12.1p11.23 (26,182,512–29,826,276) × 1 dn with a 3.6-Mb microdeletion of 10p12.1p11.23 encompassing the genes of MYO3A, GAD2, APBB1IP, PDSS1, ABI1, ANKRD26, YME1L1, MASTL, ACBD5, PTCHD3, RAB18, MKX, ODAD2, MPP7, WAC and BAMBI. The pregnancy was subsequently terminated, and a malformed fetus was delivered with facial dysmorphism of low-set ears, broad forehead and flat nasal bridge. Array comparative genomic hybridization (aCGH) analysis of umbilical cord confirmed a 3.6-Mb 10p12.1p11.23 microdeletion encompassing WAC. Conclusion: Application of aCGH is useful in the pregnancy with a normal fetal karyotype and abnormal fetal ultrasound.

BackgroundObjectiveCase DescriptionOutcomesConclusionAnkle osteoarthritis (OA) is a disease involving pain and decreased physical function which can attenuate the tolerance to perform high-load resistance training. Low-load blood flow restriction (BFR) training has been demonstrated to improve muscle strength, muscle size, and physical function in patients suffering from OA.We examined the effects of 12 weeks of BFR-training performed 4 times a week in an individual with Kellgren–Lawrence (KL) grade 4 ankle OA.A 32-year-old woman with KL grade 4 right ankle OA subsequent to a clubfoot repair in childhood performed 12 weeks of BFR-training. Four exercises with concurrent blood flow restriction (60% of arterial occlusion pressure) targeting the lower leg were performed 4 times/week. The following outcome measures were collected at baseline and 12 weeks after BFR-training: The Foot and Ankle Outcome Score (FAOS), calf circumference, maximal isometric muscle strength, single-leg heel raise test, single-leg stance test, and lateral side-hop test.Adherence to the training was 93.75%. The patient demonstrated improvements in FAOS subscale symptoms, pain, and sports/recreational activities by 19–47 points (minimal detectable change (MDC) = 18–21.5 points); maximal muscle strength in plantarflexion (36%), eversion (55%), and inversion (38%) (MDC for plantarflexion = 16.81–29.97%). The single-leg heel raise test and the lateral side-hop test improved with 66% and 51%, respectively. Calf circumference was maintained.BFR-training improved patient-reported outcomes, lower leg muscle strength, and physical function in an individual suffering from KL grade 4 ankle OA following childhood clubfoot repair. [ABSTRACT FROM AUTHOR]

Case: Traumatic pediatric Achilles ruptures are rare, and few cases have been reported among patients with a history of Achilles tenotomy. A 17-year-old boy with a history of Achilles tenotomies for congenital clubfoot as an infant presented with acute midsubstance Achilles tendon rupture of the right leg. The gastrocnemius fascia was dissected to allow for approximation of the ruptured Achilles tendon segments. Furthermore, the plantaris tendon was harvested and sutured around the Achilles tendon-rupture site to improve strength. Conclusions: Patients with a history of clubfoot and chronic Achilles tendon pain should be alerted to the risk of Achilles tendon rupture. [ABSTRACT FROM AUTHOR]

Introduction: Hand, foot, and mouth disease (HFMD) outbreaks are increasingly occurring in workplace child centres, highlighting the need for preventive measures. Both child centre caregivers and parents play a crucial role in preventing the spread of the disease, as it can be brought from home and quickly transmitted within the premises. Thus, this study aims to determine the level of HFMD preventive practice and the predictors among parents who enrol their children at the workplace child centre in Pahang. Materials and methods: A cross-sectional study was conducted by distributing a self-administered questionnaire to 163 parents who sent their children to workplace child centres selected via stratified random sampling. Validated and reliable questionnaires were used to assess the HFMD level of preventive practice and associated factors. Data were analysed by using SPSS version 28. Multivariate logistic regression was used to determine the predictors of good preventive practices. Results: The majority of respondents showed a good level of HFMD prevention practices (90.1%). Factors associated with HFMD preventive practice level were education level, history of child infected with HFMD and knowledge of HFMD (p<0.05). The predictors of a good level of preventive practices toward HFMD were tertiary education level (AOR = 8.28, 95% CI: 2.308, 20.154) and history of children infected with HFMD (AOR = 5.02, 95% CI: 1.192, 10.133). Conclusion: A high level of preventive practices among parents may contribute to the control and prevention at workplace child centres. Health promotion content may be improved by including parent's experience with HFMD. It is also useful to target health promotion towards parents with lower education levels and those who have never first-hand experience of a child with HFMD. [ABSTRACT FROM AUTHOR]

Purpose: Despite the existence of guidelines for screening for developmental dysplasia of the hip (DDH), there remains controversy regarding the need for routine ultrasound screening for DDH in patients with clubfoot due to an unclear correlation between the two conditions. The purpose of this study is to determine whether ultrasound screening for DDH in this population improved the diagnostic accuracy of DDH over standard assessment for patient risk factors and physical exam. Methods: This is a retrospective cross-sectional review of infants diagnosed with idiopathic clubfoot who underwent hip ultrasounds to assess for DDH as identified by keyword search in an institutional radiological database at a tertiary care paediatric hospital. Patient demographics, risk factors for DDH, physical exam findings, and ultrasound results were recorded. Results: Of the 120 patients who met the inclusion criteria between 2003 and 2018, 8 had hip dysplasia confirmed on ultrasound (6.7%). All these patients either had known risk factors for hip dysplasia or had an abnormal physical exam finding suggestive of hip instability or dislocation as performed by an orthopaedic surgeon on their initial consultation. Conclusion: A detailed history to determine risk factors and a thorough physical exam are adequate to determine the need for hip ultrasound in infants with idiopathic clubfoot. Routine ultrasound screening of all patients with clubfoot is likely unnecessary and may pose a significant burden on the health care system. [ABSTRACT FROM AUTHOR]

Objective: This retrospective analysis aimed to assess the effectiveness of Split Tibialis Anterior Tendon Transfer (Split TATT) in treating residual idiopathic congenital talipes equinovarus (CTEV) deformities. Methods: 15 patients (20 feet) with CTEV, with a mean age of 6.4 ± 3.2 years, initially treated with Ponseti casting, underwent Split TATT. Clinical and radiological evaluations, including Diméglio and Garceau scores, dorsiflexion, and X-ray measurements, were conducted preoperatively and post-operatively at a minimum 2-year follow-up. Results: Significant improvements were observed in Diméglio and Garceau scores. Dorsiflexion increased by an average of 3°, and radiological analysis revealed nuanced changes. Despite a weak Kappa coefficient, positive trends in dorsiflexion and Garceau scores were noted. Preoperative Garceau scores did not reliably predict postoperative results. Conclusion: Split TATT demonstrates promising results in improving muscular balance and functional outcomes in CTEV. While radiological changes are subtle, positive trends in clinical scores indicate meaningful outcomes. Level of evidence: IV Retrospective study. [ABSTRACT FROM AUTHOR]

Purpose: Selective tibial neurotomy (STN) is a surgical procedure for treating spastic equinovarus foot. Hyperselective neurectomy (HSN) of tibial nerve is a modified STN procedure, which was rarely discussed. This study aimed to describe the branching patterns of the tibial nerve and propose an optimal surgical incision of HSN for treatment of spastic equinovarus foot. Methods: Sixteen lower limbs were dissected to determine the various branching patterns of the tibial nerve and categorized according to these branching patterns. The mean distances from the nerve entry points to the tip of femur's medial epicondyle were measured, as well as their percentage to the overall length of the leg. The surgical incision was designed according to the range of these nerve entry points. Results: The tibial nerve sent out proximal and distal motor branches based on their position relative to the soleus muscle's tendinous arch. For proximal motor branches, the branches innervating the medial gastrocnemius, lateral gastrocnemius and proximal soleus were categorized into types I (9/16), II (5/16) and III (2/16). Measurements from the medial epicondyle to the nerve entry points into the medial gastrocnemius, lateral gastrocnemius and proximal soleus ranged from 14 to 33 mm (4–9% of leg length), 22–45 mm (6–12%) and 35–81 mm (10–22%), respectively. Distal motor branches including the distal soleus, posterior tibialis, flexor digitorum longus and flexor hallucis longus, were classified as types A (8/14), B (4/14) and C (2/14), with the distances from their respective terminal points to the medial epicondyle were 67–137 mm (19–39%), 74–125 mm (20–35%), 116–243 mm (33–69%) and 125–272 mm (35–77%). Conclusions: The motor branches of tibial nerve were classified into two groups and each subdivided into three types. Detailed location parameters may serve as an anatomical basis for designing incision of HSN. [ABSTRACT FROM AUTHOR]

Quantitative muscle fat fraction (FF) responsiveness is lower in younger Charcot–Marie–Tooth disease type 1A (CMT1A) patients with lower baseline calf‐level FF. We investigated the practicality, validity, and responsiveness of foot‐level FF in this cohort involving 22 CMT1A patients and 14 controls. The mean baseline foot‐level FF was 25.9 ± 20.3% in CMT1A patients, and the 365‐day FF (n = 15) increased by 2.0 ± 2.4% (p < 0.001 vs controls). Intrinsic foot‐level FF demonstrated large responsiveness (12‐month standardized response mean (SRM) of 0.86) and correlated with the CMT examination score (ρ = 0.58, P = 0.01). Intrinsic foot‐level FF has the potential to be used as a biomarker in future clinical trials involving younger CMT1A patients. ANN NEUROL 2024;96:170–174 [ABSTRACT FROM AUTHOR]

Objective: Prenatal open neural tube defect (ONTD) repair is performed to decrease the risk of needing treatment for hydrocephalus after birth and to preserve motor function. Some centers may not consider patients to be candidates for surgery if severe ventriculomegaly is present and there is no expected benefit in risk for hydrocephalus treatment. This study sought to compare the postnatal outcome of fetuses with ONTD and severe ventriculomegaly (ventricular width ≥ 15 mm) that underwent prenatal repair with the outcome of fetuses with severe ventriculomegaly that underwent postnatal repair and fetuses without severe ventriculomegaly (< 15 mm) that underwent prenatal repair. Methods: This was a retrospective study of fetuses with ONTD that underwent prenatal or postnatal repair between 2012 and 2021 at a single institution. The cohort was divided into two groups based on preoperative fetal ventricular size: those with severe ventriculomegaly (ventricular width ≥ 15 mm) and those without severe ventriculomegaly (< 15 mm). Fetal ventricular size was measured by magnetic resonance imaging before surgery using the standardized approach and the mean size of the left and right ventricles was used for analysis. Motor function of the lower extremities was assessed at the time of referral by ultrasound and if flexion–extension movements of the ankle were seen it was considered as preserved S1 motor function. Postnatal outcomes, including motor function of the lower extremities at birth and the need for a diversion procedure for hydrocephalus treatment during the first year after birth, were collected and compared between groups. Multivariate regression analysis was used to adjust for potential confounders. Results: In this study, 154 patients were included: 145 underwent fetal surgery (101 fetoscopic and 44 open hysterotomy) and nine with severe ventriculomegaly underwent postnatal repair. Among the 145 patients who underwent fetal surgery, 22 presented with severe ventriculomegaly. Fetuses with severe ventriculomegaly at referral that underwent prenatal repair were significantly more likely to need hydrocephalus treatment by 12 months after birth than those without severe ventriculomegaly (61.9% vs 28.9%, P < 0.01). However, motor function assessment at birth was similar between both prenatal repair groups (odds ratio, 0.92 (95% CI, 0.33–2.59), P = 0.88), adjusted for the anatomical level of the lesion. The prenatal repair group with severe ventriculomegaly had better preserved motor function at birth compared to the postnatal repair group with severe ventriculomegaly (median level, S1 vs L3, P < 0.01; proportion with S1 motor function, 68.2% vs 11.1%, P < 0.01). Fetuses with severe ventriculomegaly that underwent prenatal repair had an 18.9 (95% CI, 1.2–290.1)‐times higher chance of having intact motor function at birth, adjusted for ethnicity, presence of club foot at referral and gestational age at delivery, compared with the postnatal repair group. There was no significant difference in the need for hydrocephalus treatment in the first year after birth between prenatal and postnatal repair groups with severe ventriculomegaly (61.9% vs 87.5%, P = 0.18). Conclusions: Although fetuses with ONTD and severe ventriculomegaly do not seem to benefit from fetal surgery in terms of postnatal hydrocephalus treatment, there is an increased chance of preserved motor function at birth. Results from this study highlight the benefit of prenatal ONTD repair for cases with severe ventriculomegaly at referral to preserve motor function. © 2024 International Society of Ultrasound in Obstetrics and Gynecology. [ABSTRACT FROM AUTHOR]

Background: This study aimed to describe the initial treatment of clubfoot deformity in Sweden using a national cohort. Secondarily we aimed to analyse the results of the initial treatment in relation to foot severity and additional diseases. Methods: A national register, the Swedish Pediatric Orthopedic Quality Register, was used to extract data on children born with clubfoot in 2016–2019. Children with a registered evaluation after initial treatment were included. Data on deformity severity (Pirani score), casting treatment, and achillotenotomy were extracted. For children with bilateral clubfeet, one foot was included in the analysis. Results: A total of 565 children were included in the analysis. Of these, 73% were boys and 47% had bilateral clubfeet. Children with isolated clubfoot required a median of six casts to correct the deformity, while children with non-isolated clubfoot needed a median of eight casts. Seventy-seven percent underwent an achillotenotomy. Residual deformities of 0.5 or above (often soft-tissue issues) according to the Pirani score were noted in 23% (isolated clubfoot) and 61% (non-isolated clubfoot) after initial treatment. Conclusions: We have described the initial clubfoot treatment of children born with isolated or non-isolated clubfoot in Sweden based on data from a national register. The initial treatment was performed to a large extent according to the Ponseti method and international recommendations. Moreover, we discuss the usefulness of the Pirani score in classifying clubfoot deformity after treatment. [ABSTRACT FROM AUTHOR]

Background: Congenital talipes equinovarus (CTEV) is a prevalent pediatric deformity with a multifactorial etiology. The objective of this meta-analysis was to explore the association between genetic variations in COL9A1 and the susceptibility to CTEV. Methods: A comprehensive analysis of pertinent literature released before November 15, 2023, in electronic bibliographic databases was carried out. The importance of the connection was clarified through odds ratios (ORs) with 95% confidence intervals (CIs), utilizing random or fixed-effects models depending on study heterogeneity. Statistical analysis was executed using Comprehensive Meta-Analysis software (Version 4.0). Results: A total of eight case-control studies involving 833 CTEV patients and 1280 healthy individuals were included in the analysis. Among these, four studies investigated the rs1135056 variant, encompassing 432 CTEV cases and 603 controls; two studies examined the rs35470562 variant, with 189 CTEV cases and 378 controls; and two studies explored the rs592121 variant, including 212 CTEV cases and 299 controls. The results revealed a significant association between the rs1135056 and rs35470562 polymorphisms in the COL9A1 gene, suggesting an increased risk of CTEV in the overall population. Conversely, no such association was found for the rs592121 variant. Conclusion: Our findings reveal a substantial association between the genetic variants COL9A1 rs1135056 and rs35470562 and susceptibility to CTEV. Conversely, the variant rs592121 did not exhibit any corresponding link. However, the limitations imposed by the small study population have compromised the statistical reliability and generalizability of the results. [ABSTRACT FROM AUTHOR]

This document is an editorial from the journal International Orthopaedics, discussing a special issue dedicated to current concepts and recent progress in pediatric orthopaedics and trauma surgery. The field of pediatric orthopaedics has seen significant changes in recent years, with increasing specialization in various areas. The special issue includes high-quality scientific papers from authors in 35 different countries, covering a wide range of topics and clinical innovations. The editorial highlights key papers in the issue, expressing gratitude to the authors and the journal for their contributions. This report, authored by Federico Canavese, Patricia Maria de Moraes Barros Fucs, and Ashok N. Johari, provides an in-depth analysis of a specific topic, written in a culturally sensitive manner. Library patrons conducting research on this topic will find this report to be a valuable resource. [Extracted from the article]

Purpose: The purpose of this study is to compare the results of the Oxford Ankle and Foot Questionnaire (OxAFQ) in children with clubfoot in Canada and India to assess its ability to predict outcomes and capture patient experiences in different cultural contexts. Methods: This is a retrospective study of children with clubfoot in India and Canada who completed the OxAFQ. Statistical analyses were implemented on registry-collected data to test for independent predictors of poor outcomes and compare scores between countries, among children and their parents, and in Canada where relapse data was collected and the effect of a relapse on scores. Results: A total of 361 children were included. The mean Indian OxAFQ scores were higher (p < 0.001) in all domains. Pirani score, tenotomy, laterality, and age at presentation were found to be predictive of outcomes between the sites (p < 0.05). OxAFQ scores decreased after relapse for children in Canada (p < 0.05). Canadian children were found to generally have lower OxAFQ scores in all domains compared to their parents (n = 95; Z = −3.178, −3.493, −3.353, and −3.635 for physical, school and play, emotion, and footwear, respectively; p < 0.001). Indian parents and children showed no significant differences in their scores. Conclusions: A difference was observed in scores between both sites, suggesting there may be differences in how these populations assess personal health outcomes. These findings support the need for cultural validity of patient-reported outcome measures. [ABSTRACT FROM AUTHOR]

Purpose: The aims of the study were to document the outcomes of percutaneous Achilles tenotomy (pAT) performed in older children with clubfoot, by assessing the clinical, functional and ultrasonographic evidence of Achilles tendon regeneration. Methods: A retrospective case series of older children with clubfoot treated between August 2011 and July 2020 was studied. Clinical assessment of ankle range of motion and calf strength, functional assessment of triceps surae muscle endurance by single leg heel-rise test, and ultrasonographic assessment of Achilles tendon echotexture and dimensions to assess tendon regeneration were performed. Results: Percutaneous Achilles tenotomy was performed on 31 children (48 clubfeet) at a mean age of 5.24 ± 2.14 years (1–10.2 years). At a mean follow-up of 4.86 ± 1.97 years, all children demonstrated normal calf strength with mean dorsiflexion range of 13.64° (0–25°) and mean plantarflexion range of 37.95° (10–40°). The heel-rise endurance test was completed by 27 children with mean 25.85 heel rises/minute (range 17–30) and mean height of heel rise of 6.29 cm (range 4–10 cm). Normal fibrillar tendinous echotexture with homogenous echogenicity was seen on ultrasonography in 41 feet (85.4%) with mean tendon width of 9.7 mm (3.3–16 mm) and thickness of 5.1 mm (1.8–15 mm), comparable with unaffected feet. Conclusions: Clinical, functional and ultrasonographic parameters unequivocally demonstrate complete regeneration of the Achilles tendon, when pAT is performed in older children with delayed-presenting idiopathic clubfoot treated using Ponseti principles. [ABSTRACT FROM AUTHOR]

Diphallia is an exceptionally rare genitourinary anomaly often associated with caudal duplication syndrome, which poses challenges in understanding its diverse nature. This case report presents a unique manifestation in a male infant born at 36 weeks to a mother with uncontrolled diabetes. The infant exhibited complete duplication of the penis, scrotum, testicles, urethra, bladder, sacrum, and right kidney, alongside major anomalies including Tetralogy of Fallot and lumbosacral spinal dysraphism with lipomyelomeningocele. Minor anomalies included abnormal ear creases, hypospadias, hydronephrosis, rectal-urethral fistulas, and a left club foot. This case represents the first documentation of such a complex constellation of supraumbilical presentation that includes abnormal ear creases and cardiac associations of Tetralogy of Fallot, right-sided aortic arch, and mirror aortic arch vessels. [ABSTRACT FROM AUTHOR]

Background: The intraoperative use of tourniquets is associated with several complications, including hyperthermia. We present the first documented case of tourniquet-induced hyperthermia in a pediatric patient at our institution. Case: A 5-year-old female with no past medical history underwent tendon release surgery for congenital talipes equinovarus under general anesthesia. Following inflation of a pneumatic tourniquet to a pressure of 250 mmHg on her left thigh, the patient experienced a gradual increase in body temperature. Despite the implementation of cooling measures, the temperature continued to increase until it plateaued. The hyperthermia gradually resolved upon deflation of the tourniquet. Conclusions: Tourniquet-induced hyperthermia should be considered as a potential cause of intraoperative hyperthermia, particularly in the absence of typical signs of malignant hyperthermia. Early recognition and appropriate management, including deflation of the tourniquet and implementation of cooling measures, are crucial for preventing potential complications associated with hyperthermia. [ABSTRACT FROM AUTHOR]

Background: Clubfoot, also known as congenital talipes equinovarus is a prevalent childhood ailment that, if untreated, can lead to long-term discomfort and impairment. The Ponseti technique, aimed at achieving corrected foot positioning, is widely accepted. This study investigated the influence of clubfoot severity (Pirani score), patient age, and initial manipulation and casting weight on the overall number of casts needed for effective treatment. Methods: A prospective study was carried out involving 40 idiopathic clubfoot patients where manipulation and casting were performed following the Ponseti method. Patient age, weight, and foot Pirani score were evaluated concerning the total number of casts needed to achieve 70° of abduction. Results: The majority of participants were male infants aged 4–6 months, with a median age of 4.5 months. Half of them weighed between 3.00 and 4.99 kg at their first hospital visit, with a median weight of 3.20 kg. Bilateral clubfoot involvement was common (57.5%). Children with Pirani HFCS 2.0–3 often required percutaneous tenotomy (87.5%, p value 0.05). On average, patients needed 5 casts (range 3–9). The mean total Pirani scores were 4.71 for the right foot and 4.61 for the left foot. The study reported a positive correlation between higher total Pirani scores and the required number of casts. Conclusions: The Pirani scoring system is highly accurate in assessing clubfoot severity and predicting treatment success. It emerged as the single most significant predictor for both the total number of casts and the need for percutaneous tenotomy. [ABSTRACT FROM AUTHOR]

This article discusses a pediatric case of KMT2A-rearranged B-lymphoblastic lymphoma, a rare type of non-Hodgkin lymphoma in children. The KMT2A gene rearrangements are commonly found in acute lymphoblastic leukemia (ALL) and acute myeloid leukemia (AML), but are rarely described in lymphomas. The patient in this case had a mass on his back, which was surgically removed and diagnosed as B-lymphoblastic lymphoma. The presence of a KMT2A-rearrangement led to the decision to treat the patient with high-risk chemotherapy. The article emphasizes the need for further research to determine the best treatment approach for this type of lymphoma. [Extracted from the article]

Introduction: Congenital talipes equinovarus is an idiopathic and common congenital deformity. Clubfoot treatment includes series stretching, manipulation, and immobilization; and for the relapse and resistant cases, management includes soft tissue releases, osteotomy, and immobilization. Tenotomy of the tendo-Achilles is an essential step in the Ponseti treatment of congenital talipes equinovarus (CTEV). In this study, we did a wide bore needle tenotomy, a minimally invasive technique for the management of equinus deformity. Materials and Methods: The study included 50 patients with 73 idiopathic clubfeet treated with the Ponseti technique. Out of which, 58 feet were treated by a wide bore needle tenotomy with aseptic precautions. Results: Out of all 73 feet managed with the Ponseti technique, 58 feet equinus were treated with a wide bore needle tenotomy, and the rest of the 15 feet equinus were corrected with a cast. The mean age at presentation of all the patients was 4.44 months. Mean cast applied was 7.24, equinus correction in age more than 6 months was only tenotomy. Conclusion: The results of our study showed good correction of deformity with low expenditure and minimal surgical intervention. The percutaneous needle tenotomy procedure offers a reliable and effective procedure for correcting equinus in club foot deformity with less chances of infection and other complications. We found that correction of equinus with cast is more effective at an early age of presentation and with a low Pirani severity score. [ABSTRACT FROM AUTHOR]

Background: Idiopathic clubfoot is one of the most common congenital problems affecting newborns. Several methods are used for grading its severity, of which Pirani score is the most reliable one. The Ponseti method of clubfoot management is effective, producing better results and fewer complications than traditional surgical methods. Methods: The study includes 27 clubfeet who were diagnosed with clubfoot and who were scored using Pirani score and were treated with the Ponseti method with possible Achilles tenotomy. Result: The study showed that the mean Pirani scores before treatment were significantly higher in the tenotomy than in the non-tenotomy group (3.54 vs. 2.23 for the total Pirani score, 2.25 vs. 1.69 for the midfoot Pirani score and 1.29 vs. 0.59 for the hindfoot Pirani score). The study proposes a "before treatment" cutoff point of 2.75 for the total Pirani score, 1.75 for the midfoot Pirani score and 1.25 for the hindfoot Pirani score, where a score above these cutoff points can predict the need for tenotomy. Conclusion: This study showed that the Pre-treatment Pirani score can help surgeons decide whether to do tenotomy or not in patients treated with the Ponseti method. [ABSTRACT FROM AUTHOR]

Background: Recognized as one of the most serious musculoskeletal deformities, occurring in 1–2 per 1000 newborns, 80% of clubfeet are idiopathic while 20% present with associated malformations. The etiopathogenesis of clubfoot is described as multifactorial, including both genetic and environmental risk factors. The aim of this study was to analyze possible genetic causes of isolated and syndromic clubfoot in Serbian children, as well as to correlate clinical and genetic characteristics that would provide insight into clubfoot etiopathogenesis and possibly contribute to global knowledge about clinical features of different genetically defined disorders. Methods: We evaluated 50 randomly selected, eligible children with clubfoot aged 3 to 16 years that were initially hospitalized and treated at University Children's Hospital between November 2006 and November 2022. The tested parameters were gender, age, dominant foot, affected foot, degree of deformity, treatment, neuromuscular disorders, positive family history, and maternal smoking. According to the presence of defined genetic mutation/s by whole exome sequencing (WES), patients were separated into two groups: positive (with genetic mutation/s) and negative (without genetic mutation/s). Results: Seven patients were found to be positive, i.e., with genetic mutation/s. A statistically significant difference between categorical variables was found for families with a history of clubfoot, where more than half (57.14%) of patients with confirmed genetic mutation/s also had a family history of genetic mutation/s (p = 0.023). Conclusions: The results from this study further expand the genetic epidemiology of clubfoot. This study contributes to the establishment of genetic diagnostic strategies in pediatric patients with this condition, which can lead to more efficient genetic diagnosis. [ABSTRACT FROM AUTHOR]

Introduction: Percutaneous tenotomy of the Achilles tendon is a procedure that is part of the Ponseti method for clubfoot correction. The need to apply general anesthesia or sedation for this procedure is controversial. The objective of this study is to compare the acute stress generated in infants by percutaneous Achilles tenotomy under local anesthesia vs. peripheral line placement. Material and methods: This cross-sectional study compares the discomfort experienced by 85 infants undergoing percutaneous Achilles tenotomy with local anesthesia with that experienced by 39 infants undergoing peripheral line placement. The following parameters were determined: the duration of the procedure, crying time, average crying intensity, and maximum crying intensity. Other data recorded included the infant's age and complications arising during the procedure. Results: The mean ages of these patients were 1.95 and 2.18 months, respectively. The following data were obtained: the mean duration of the procedure for Group A was 8.13 s and for Group B it was 127.43 s; the mean duration of crying for Group A was 84.24 s and for Group B it was 195.82 s; the mean intensity of crying for Group A was 88.99 dB and for Group B it was 100.98 dB; and the maximum crying intensity for Group A was 96.56 dB and for Group B it was 107.76 dB. Conclusions: Percutaneous Achilles tenotomy can be safely performed as an outpatient procedure, under local anesthesia. This method generates less discomfort than peripheral line placement. [ABSTRACT FROM AUTHOR]

The article discusses the distinct clinical characteristics and genetic underpinnings of Distal Arthrogryposis Type 1 (DA1), emphasizing its similarity to but lack of craniofacial features seen in other related syndromes. It also explores the challenges in surgical management, particularly in correcting contractures of the ankle-foot complex and hands, and highlights the variability in anaesthetic considerations, advocating for tailored approaches based on patient needs and safety profiles.

Background: The Ponseti method for treating clubfoot consists of initial treatment with serial casting accompanied by achillotenotomy if needed, followed by the maintenance phase including treatment with a foot abduction orthosis (FAO) for at least four years. This study aimed to examine the duration, course, and outcome of orthotic treatment in children with clubfoot. Methods: 321 children with clubfoot, born between 2015 and 2017, registered in the Swedish Pediatric Orthopedic Quality Register (SPOQ), were included in this prospective cohort study. Data on deformity characteristics and orthotic treatment were extracted. For children with bilateral clubfoot, one foot was included in the analysis. Results: Of the 288 children with isolated clubfoot, 274 children (95.5%) were prescribed an FAO, and 100 children (35%) changed orthosis type before 4 years of age. Of the 33 children with non-isolated clubfoot, 25 children (76%) were prescribed an FAO, and 21 children (64%) changed orthosis type before 4 years of age. 220 children with isolated clubfoot (76%), and 28 children with non-isolated clubfoot (84%) continued orthotic treatment until 4 years of age or longer. Among children with isolated clubfoot, children ending orthotic treatment before 4 years of age (n = 63) had lower Pirani scores at birth compared to children ending orthotic treatment at/after 4 years of age (n = 219) (p = 0.01). It was more common to change orthosis type among children ending orthotic treatment before 4 years of age (p = 0.031). Conclusions: The majority of children with clubfoot in Sweden are treated with an FAO during the maintenance phase. The proportion of children changing orthosis type was significantly greater and the Pirani score at diagnosis was lower significantly among children ending orthotic treatment before 4 years of age. Long-term follow-up studies are warranted to fully understand how to optimize, and individualize, orthotic treatment with respect to foot involvement and severity of deformity. Level of evidence: II. [ABSTRACT FROM AUTHOR]

BACKGROUND: Congenital dislocation of the knee (CDK) is rare and can cause significant distress in the delivery room to parents and to healthcare providers, especially if the latter are unaware of this condition. It may not be detected by prenatal ultrasound and can be either an isolated finding or associated with other anomalies such as developmental hip dysplasia and genetic syndromes such as Larsen syndrome. Because of the risk of development of contractures, immediate referral to a specialized provider is needed. Poor prognostic factors include an association with a genetic syndrome, limited knee flexion related to severe quadriceps retraction, and absence of anterior skin grooves. A satisfactory outcome can be anticipated in isolated cases with easy reducibility of the knee. CASE REPORT: A term baby presented unexpectedly with left knee dislocation after delivery. The providers, unaware of the condition, immediately consulted the orthopedic service, who assisted in the diagnosis, and appropriate management was initiated. The baby had serial casting of the leg, which was applied for almost 3 months, with excellent results on the clinical examination. CONCLUSIONS: CDK is a rare finding. The diagnosis is primarily clinical and radiographs are used to confirm and assess the degree of the dislocation. The degree of dislocation is important for management and prognosis. Interventions ranging from serial casting to surgery are required as soon as possible. As the CDK can be associated with genetic syndromes or other dysplasias such as developmental dysplasia of the hip and talipes equinovarus, further evaluation for these conditions is warranted. [ABSTRACT FROM AUTHOR]

Schinzel-Giedion syndrome (SGS) is a severe multisystem disorder characterized by distinctive facial features, profound intellectual disability, refractory epilepsy, cortical visual impairment, hearing loss, and various congenital anomalies. SGS is attributed to gain-of-function (GoF) variants in the SETBP1 gene, with reported variants causing canonical SGS located within a 12 bp hotspot region encoding SETBP1 residues aa868-871 (degron). Here, we describe a case of typical SGS caused by a novel heterozygous missense variant, D874V, adjacent to the degron. The female patient was diagnosed in the neonatal period and presented with characteristic facial phenotype (midface retraction, prominent forehead, and low-set ears), bilateral symmetrical talipes equinovarus, overlapping toes, and severe bilateral hydronephrosis accompanied by congenital heart disease, consistent with canonical SGS. This is the first report of a typical SGS caused by a, SETBP1 non-degron missense variant. This case expands the genetic spectrum of SGS and provides new insights into genotype-phenotype correlations. [ABSTRACT FROM AUTHOR]