Clubfoot Research Articles

VACTERL Association in Kano, North-West Nigeria

VACTERL association is a term used to describe the simultaneous occurrence of at least 3 of the following congenital malformations: vertebral anomalies, anal atresia, cardiac malformation, tracheo-oesophageal fistula, renal dysplasia, and limb abnormalities. Most cases occur sporadically with an estimated incidence rate of 1 in 10,000 – 40,000 births. We report the case of an 11-month-old infant that presented with a complaint of recurrent cough and difficulty in breathing since 1 month of life. There is also the history of delayed motor developmental milestones. Physical examination and investigations revealed the presence of VACTERL association (bilateral talipes equinovarus deformity, multiple cardiac shunt lesions, and malformation of the 5th lumbar vertebrae with dural ectasia and lumbosacral scoliosis). She has been on oral diuretics and is currently on follow-up in pediatric cardiology, orthopedic, and neurosurgery clinics. This case report highlights the presence of a rare case of the VACTERL association in Kano, North-West Nigeria.

Experience with accelerated ponseti technique for treatment of idiopathic clubfoot in a regional orthopaedic hospital in Nigeria.

Idiopathic talipes equinovarus (ITEV) 'aka clubfoot' is the most common foot deformity in children. Ponseti technique had been accepted as a standard method for correction. The traditional Ponseti technique for correction is well known. Accelerated Ponseti technique is said to offer some advantages over the standard technique. The aim of this study was to determine and document the efficiency and success rate of accelerated Ponseti technique. This was a prospective interventional study which lasted 26 months from February 2017 to April 2019. Twenty-eight patients with 42 feets who met the inclusion criteria were recruited. They had serial manipulation and casting twice every week till percutaneous tenotomy was done as indicated. Final cast usually applied after tenotomy and left for 3weeks. Each patient was followed up for a year corresponding to 9 months after the commencement of night bracing. Data were analysed using SPSS version 20. The mean age was 8.1 months with a range of 1-36 months. The mean Pirani score recorded was 4.4, while the mean number of casting sessions was 3.6 and the mean duration of treatment was 12.4 days. The tenotomy rate recorded was 42.9%. Pre-bracing assessment of Pirani score, passive ankle dorsiflexion and foot abduction done and repeated after a year revealed optimal correction. The relapsed rate at 1 year was 4.8%. The only complication observed was pressure sore in a patient. The accelerated Ponseti technique is an efficient method of treatment of ITEV in a much shorter time with a higher success rate. It facilitates compliance with treatment.

The Success of the Ponseti Method in the Treatment of Congenital Varus Bot Foot (Cvbp) in a Low-Income Country: Preliminary Results of a 125pbve Series in 82 Patients

Summary Varus equines club foot (VEBF) is a complex, three-dimensional deformity characterized by equines and Varus of the hind foot, adduction of the forefoot and supination of the foot. The purpose of this work was to evaluate the preliminary results of the treatment of equines varus clubfoot by the Ponseti method. Methods: This was a prospective descriptive study over a 3-year period (January 2015 to December 31, 2017) including 125 EVBP in 82 patients aged 0 to 6 years. Syndromic and neurogenic club foot were not included. Results: PBVE represented O, 69% of consultations, the average age of patients was 3.8 months; there were 46 boys and 36 girls. The damage was bilateral in 43 patients, tenotomy of the Achilles tendon was performed in 91.46% of the cases; the average number of casting sessions was 6.5 ± 1.54. The results were very good in 89.02% of the cases, good in 7.32% and bad in 3.36% of the cases. Conclusion: The Ponseti method (PM) is an effective and inexpensive treatment adapted to low-income countries like ours. It allows the correction of PBVE from birth to late child hood for non-stiff feet. PD has allowed a correct functional future for potentially disabled children.

Congenital Talipes Equinovarus: A Review

An Abnormal anatomical variation of any part of the body is a predictor of functional aberration of that part. Congenital talipes equinovarus imposes some functional compromise on the foot, resulting in structural adaptation or modification of the local anatomy in conformity with the direction of the structural stress that subserves the abnormal function.

Factors Predictive of Tenotomy After Ponseti Casting for Idiopathic Clubfoot: A Tertiary Care Center Study.

Parents of children with clubfoot are likely to inquire about the need for tenotomy and about any factors that may be predictive. The present study was done to identify factors that may help predict the need for tenotomy in children undergoing Ponseti treatment for idiopathic clubfoot. A prospective observational study was conducted on patients under 5 years of age with idiopathic clubfoot and no previous treatment history treated at Hospital and Rehabilitation Centre for Disabled Children. The relationship between the Pirani score, Dimeglio score, age, and passive ankle dorsiflexion (DF) and the need for heel cord tenotomy was analyzed using appropriate statistical methods. Of 83 patients (125 feet) with a mean age of 6 months, 93 feet (74.4%) required a percutaneous tenotomy. The mean initial Pirani and Dimeglio score for 125 club feet was 4.5 (SD=1.68) and 13.5 (SD=6.1), respectively. The mean initial passive ankle DF was -40.4 (SD=22.31). The Dimeglio ( P =0.000), Pirani scores ( P =0 .000), and passive ankle DF ( P =0.000) showed significant association with the need for tenotomy. This study shows a strong association between initial Pirani and Demiglio scores and initial passive ankle DF as predictive of a heel cord tenotomy. However, age, sex, and laterality were not associated with the need for tenotomy.

Whole exome sequencing improves genetic diagnosis of fetal clubfoot.

This retrospective study aimed to investigate the value of whole exome sequencing (WES) for clubfoot (CF) fetuses with or without other structural abnormalities and to further explore the genetic causes of fetal CF. this study included 83 singleton pregnancies diagnosed with fetal CF referred to our center between January 2016 and March 2022; cases were divided into two groups: isolated CF and non-isolated CF. After excluding cases with positive karyotyping and chromosomal microarray analysis results, WES was performed for the eligible fetuses and parents. Monogenic variants detected by WES and perinatal outcomes were recorded and evaluated at postnatal follow-up. overall, clinically significant variations were identified in 12.0% (10/83) of fetuses, and the detection rate was significantly higher in the non-isolated than in the isolated CF group (8/36, 22.2% vs. 2/47, 4.3%, p = 0.031). We additionally detected eight (9.6%) fetuses harboring variants of unknown significance. We identified 11 clinically significant variations correlating with clinical phenotypes in nine genes from ten fetuses, with KLHL40 being the most frequent (n = 2). Furthermore, we observed a significant difference in termination and survival rates between isolated and non-isolated CF cases (27.6 vs. 77.8% and 59.6 vs. 19.4%, p < 0.001 for both). our data indicate that WES has a high additional diagnostic yield for the molecular diagnosis of fetal CF, markedly enhancing existing prenatal diagnostic capabilities and expanding our understanding of intrauterine genetic disorders, thus assisting us to better interpret fetal phenotype in the future.

Comparison of Outcomes of Early and Late Surgical Interventions in Lipomeningomyelocele (LMMC) and Lipomeningocele (LMC)

Objectives: The study compared the signs and symptoms of post-operative complications in early vs. late intervention lipomeningomyelocele (LMMC) and lipomeningocele (LMC).&#x0D; Materials and Methods: We compared the clinical and surgical data between two groups i.e., lipomeningomyelocele (n = 189) and lipomeningocele (n = 64), and their early vs. late surgical interventions for 3 years from January 2018 to July 2021. We included patients of both genders (n = 253) with lipomeningomyelocele or lipomeningocele aged up to 7 years. A detailed neurological exam i.e., sensory, motor, and cerebellar signs was performed to evaluate the patients.&#x0D; Results: The presentation of LMMC (74.7%) was very high compared to LMC (25.3%). 74.7% underwent detethering of the spinal cord, as they had cord tissue coming out of the defect. 25.2% had only meninges coming out of the bony deficiency and performed dural repairs. 47 patients had incontinence which was improved postoperatively. Sixty-nine patients had hydrocephalus which was treated with VP shunt or ETV. 23 patients had diastematomyelia which is a bony spur duly repaired intra-operatively. 50 presented with paraplegia and 19 cases with club feet. The majority of patients in both groups, reported for Power would fall between 3/5-4/5. For patients who underwent late intervention, 7 presented with post-operative incontinence, 12 with hydrocephalus, 12 with CSF leakage, and 13 with paraplegia.&#x0D; Conclusion: If performed on time, surgical intervention in lipomeningocele and lipomeningomyelocele yields good results. Early intervention is substantially better for managing post-op CSF leakage and incontinence than late intervention.

A Systematic Review and Single Center Experience With Percutaneous Needle Tenotomy in Congenital Talipes Equinovarus (CTEV).

Percutaneous scalpel tenotomy is frequently performed as part of congenital talipes equinovarus (CTEV) to correct the equinus deformity. The use of a scalpel is associated with complications such as neurovascular bundle damage and pseudoaneurysms. In the literature, a percutaneous large-bore needle has been found to be a safer alternative to a scalpel for performing tenotomies. The goal of this study was to conduct a systematic review and report a single-center case series on the use of percutaneous needle tenotomy in the treatment of CTEV. A Preferred Reporting Items of Systematic Review and Meta-analysis (PRISMA)-compliant literature search was conducted to identify studies describing the use of a percutaneous needle tenotomy in the treatment of idiopathic CTEV. A retrospective case series of patients with idiopathic CTEV treated with percutaneous needle tenotomy over a seven-year period from a single center were also conducted. The patients' demographics, the location of the clubfoot, and the Pirani score were all recorded. An analysis of descriptive statistics was carried out. Continuous data were expressed as mean and SD, whereas categorical variables were expressed as absolute numbers and percentages (%). The systematic review included eight papers with a total of 1026 feet and a mean age of 10.4 weeks (SD 5.9). There were 47 (0.04%) complications across all studies, with a pooled success rate of 95%. Eleven patients (16 feet) were included in the single-center case study. The patients' initial Pirani score was 4.8 (SD 1.5), with a final score of 0. (SD 0). Four complications occurred in the patient's cohort - one minor bleeding and three recurrences as a result of poor compliance with the post-tenotomy foot abduction brace.In conclusion, the percutaneous Achilles tenotomy of a CTEV foot with a large bore needle is a safe and effective alternative.

Neonate with Disseminated Pseudomonas Infection Presenting with Endogenous Endophthalmitis, Meningitis, and Subcutaneous Nodules

A male patient born at 32 weeks, via emergent c-section, was immediately intubated due to fetal respiratory distress. Systemic evaluation identified Tetralogy of Fallot with pulmonary atresia, talipes equinovarus, absent tibias, and butterfly vertebrae. The first three weeks of life were complicated by an Enterococcus faecalis urinary tract infection and Pseudomonas aeruginosa bacteremia. On postnatal day twenty he developed multiple subcutaneous abdominal nodules (Fig. 1 A). Five days later, ophthalmology evaluation revealed severe right corneal ulceration (Fig.

Increased Nuchal Translucency Without Aneuploidy in a Fetus: Abnormal Postnatal Radiograph and a Novel Mutation.

Increased Nuchal Translucency Without Aneuploidy in a Fetus: Abnormal Postnatal Radiograph and a Novel Mutation.

Long-term neurological cognitive, behavioral, functional, and quality of life outcomes after fetal myelomeningocele closure: a systematic review.

Myelomeningocele is a lifelong condition that features several comorbidities, such as hydrocephalus, scoliosis, club foot, and lower limb sensory and motor disabilities. Its management has progressed over time, ranging from supportive care to early postnatal closure to prenatal closure of the defect. Recent research discovered that fetal myelomeningocele closure (fMMC) provided superior neurological outcomes to those of postnatal closure. When performed at 12 months of age, fMMC can avert or delay the need for a ventriculoperitoneal shunt and reversed the hindbrain herniation. Moreover, fMMC reportedly enhanced motor function and mental development at 30 months of age. However, its long-term outcomes remain dubious. This systematic review aimed to determine the long-term neurological cognitive, behavioral, functional, and quality of life (QoL) outcomes after fMMC. The PubMed, Directory of Open Access Journals, EBSCO, and Cochrane databases were extensively searched for articles published in 2007-2022. Meta-analyses, clinical trials, and randomized controlled trials with at least 5 years of follow-up were given priority. A total of 11 studies were included. Most studies revealed enhanced long-term cognitive, behavioral, functional, and QoL outcomes after fMMC. Our results suggest that fMMC substantially enhanced patients' long-term neurological cognitive, behavioral, functional, and QoL outcomes.

A Retrospective Study on the Complications of Ilizarov Technique in the Treatment of Neurogenic Talipes Equinovarus

In order to discuss the postoperative complications of Ilizarov technique in the treatment of neurogenic talipes equinovarus, we conducted a retrospective study on the postoperative complications of neurogenic talipes equinovarus patients treated with Ilizarov technique from January 2013 to December 2020.

Promising results in a 3-year follow-up for adults undergoing a one-stage surgery for residual talipes equinovarus as part of a humanitarian mission in Vietnam

BackgroundRigid talipes equinovarus (TEV) is a complex foot deformity in which the foot is fixed in a plantarflexed, inverted, and adducted position. This pathology has the potential to severely limit basic life activities, which can be devastating for patients in developing countries. The objective of this study was to present the outcomes of patients with mature bones presenting with severe rigid TEV deformity who were operated on during a humanitarian mission to Vietnam using a single lateral approach and a simple and inexpensive fixation technique.MethodsThis is a retrospective analysis of prospectively collected data. We analyzed the outcomes of patients who underwent surgery for a severe rigid TEV that prevented them from walking minimal distances unaided. All feet were fixed in a non-plantigrade position. The surgeries were conducted as part of two International Extremity Project (IEP) missions in Can Tho, Vietnam (2013 and 2018). Pre- and post-operative AOFAS scores were compared using the paired sample t-test.ResultsWe operated on 14 feet of 12 patients, 6 (50%) of whom were males, aged 34.42 ± 11.7 (range 12 to 58). Four patients were followed for three months, two patients were followed for 12 months, and eight patients were followed for three years. On the final follow-up visit of each patient, all 14 operated feet were plantigrade with good alignment, and patients reported an improvement in daily activity. After 3 years of follow-up, the mean AOFAS score of eight patients with available data improved by 42.88 ± 3.91 points (95% CI 39.61 to 46.14, P < 0.01). Our patients also reported an improvement in mobility. At the final follow-up examination, no recurrence of the deformity was observed in any of the patients.ConclusionsUsing low-technical surgical modalities, we were able to achieve plantigrade and walkable feet in patients with mature bones who had fixed rigid equinovarus.Level of evidenceLevel IV- Case Series.

The spectrum of foot deformities in Loeys-Dietz syndrome.

Loeys-Dietz syndrome (LDS) is characterized by a wide spectrum of musculoskeletal manifestations, including foot deformities. The spectrum of foot deformities in LDS has not been previously characterized. Our objective was to describe the incidence and characteristics of foot deformities in LDS. We retrospectively reviewed the demographic, clinical and imaging data for patients diagnosed with LDS who were seen at our Orthopedic surgery department from 2008 to 2021. We performed descriptive analyses and compared distributions of deformities by LDS genetic mutations. Of the 120 patients studied, most presented for evaluation of foot deformities ( N = 56, 47%) and scoliosis ( N = 45; 38%). Ninety-seven patients (81%) had at least one foot deformity, and 87% of these patients had bilateral foot deformities. The most common deformities were pes planovalgus (53%) and talipes equinovarus (34%). Of patients with foot deformities, 58% presented for evaluation of the feet. Of patients with pes planovalgus, only 17% presented for evaluation of the feet. Among patients with pes planovalgus, 2% underwent surgery and 16% used orthotics compared with 76% and 42%, respectively, for patients with talipes equinovarus. We found no association between deformities and genetic mutations. Bilateral foot deformities are highly prevalent in patients with LDS and are the most common reason for presentation to orthopedic surgeons. Although pes planovalgus is the most common deformity, it rarely prompted surgical treatment. Orthopedic surgeons treating LDS patients should be aware of the unique characteristics of foot deformities in LDS.

Case Report on Neglected bilateral feet Congenital Talipes Equinovarus with Callosities on the lateral aspect

Background: Congenital deformity of both feet is also called clubfoot. A common congenital orthopedic condition characterized by an excessively turned in the foot (equinovarus) and high medial longitudinal arch (cavus). If neglected the deformity can result in long‐term disability and pain. Interventions can be conservative such as splinting or stretching or surgical. Talipes equinovarus is one of the more common congenital abnormalities affecting the lower limb and can be challenging to manage. There is evidence for a genetic contribution to congenital talipes equinovarus etiology. Case Presentation: A 7 years old Male child came to the Pediatric department with a chief complaint of deformity of both feet since birth. No Interventions were done during the first month of the baby. And that serial casting was done on both feet for 1 year, yet no correction was observed. After 1 year of age posterior soft tissue release of the right leg. After every 10 days, serial casting was done and yet no correction was observed. Now came to the Pediatric department for further management. On arrival, a physical examination of the foot was carried out which shows swelling over the right leg along with tenderness. The Contrast Enhanced Computed Tomography was done later he was treated with antibiotics, analgesics, and antacids. Conclusion: It is a congenital deformity foot. The congenital deformity of the foot may occur lateral and bilateral. The congenital deformity of the bilateral foot is common in children. The bilateral deformity of the foot affects 80% or more. The most significant contributing component to its cause appears to be heredity. The prevalence of congenital talipes is uncommon and roughly equal in both sexes.

Caring for a child with club foot impact on family: A cross sectional study

Background: Clubfoot is a treatable abnormality that can be managed with early interventions. Parental support is important for the compliance of the management and to achieve good outcome. Identifying and quantifying the family impact due to this condition is important when addressing the caregivers of these children. The aim of this study was to determine the financial, familial social impact, personal strain, and coping strategies of parents of a child with CTEV and explore any associated factors.&#x0D; Method: A descriptive cross-sectional study was carried out on 48 families presenting to the club foot clinic at Lady Ridgeway Hospital, Sri Lanka. A self-administered questionnaire with the Impact to Family Score and selected demographics was filled out by the selected participants.&#x0D; Results: Mean age of the children in the study sample was 21.4 months. 65.96% of the sample were families where only one parent was working and 64.6% of the total sample were living with extended families. The perceived mean total impact was 53.9 (SD=11.59) (range 34 to 78) and implying to be significantly lower than a USA study measuring impact for other chronic illnesses in children (M=48.03, SD=8.2, t(47)=3.53, p&lt;0.01). Total impact in only one parent working (M=50.42, SD=9.80) implied to be significantly higher than both parents working (M=59.88, SD=12.51) t(45)=-2.87, p&lt;0.01.&#x0D; Conclusion: Except for personal strain domain, all other domains of the family impact are perceived less when caring for a child with clubfoot than when caring for a child with chronic medical illness. Instances with only one working parent, and those living with extended family were identified to have a higher perceived impact when compared to their counterpart groups. Coping strategies of the parents were more favourable within nuclear families. This can be taken as a baseline study which demonstrates caregiver and family burden when caring for a child with club foot.

Efficacy of a Photograph-Based Triage System Initiated During the COVID-19 Pandemic to Identify and Streamline Pediatric Foot and Ankle Referrals

Background: The COVID-19 pandemic required hospitals to reduce in-person visits. Although most pediatric foot and ankle conditions do not require urgent consultation, clubfoot (CF) relies on early identification and treatment. To avoid unnecessary hospital visits for infants, we developed a triage system using standardized clinical photographs of the child's feet taken by the parents for clinician review. This study assesses the efficacy of this triage system based on accuracy of the triage diagnosis (TDx) and time from referral to initial consultation (IC).Methods: This is a retrospective cohort review of patients referred to a tertiary care pediatric institution for a foot and ankle condition from 03/16/20 to 09/15/20 (onset of COVID-19), and from the same period in 2019 (prior to use of the triage system). Patients were identified by referring diagnosis (RDx). Patients were excluded if they missed their initial visit or the RDx was not clear. Chart review was performed to collect demographic data, clinical photographs, RDx, TDx, IC diagnosis, and time to IC. Diagnosis accuracy (DA) scores were assigned: 0 when RDx or TDx did not match diagnosis at IC, 0.5 if the diagnosis was partly correct, and 1 when diagnoses aligned. Sensitivity and specificity of the photo-based triage system were calculated for patients referred for clubfoot.Results: Of the 118 patients included, 62 were referred for CF and 56 for other foot and ankle conditions (FA). In 2020, 23/27 CF and 11/12 FA patients sent photographs. The average time to IC for FA patients was similar in both years (142 days in 2019 vs. 183 days in 2020, p=0.24), while the average time to IC for CF decreased from 66 days in 2019 to 31 days in 2020 (p=0.08). Accuracy for TDx in 2020 was high for CF (0.98) and FA (0.92) patients (p=0.49). Sensitivity and specificity of TDx for clubfoot patients were 100%.Conclusion: Triage diagnosis was accurate and time from referral to consultation decreased for clubfoot patients from 2019 to 2020, supporting that this novel photo-based triage system for pediatric foot and ankle referrals is effective in identifying urgent consults and ensuring timely assessment.Level of Evidence: III Key Concepts•Diagnosis of pediatric foot and ankle conditions by clinical photographs submitted by parents is accurate.•Triage of pediatric foot and ankle referrals with submitted clinical photographs enables appropriate streamline of urgent consultations and avoids unnecessary visits for self-resolving conditions.•Wait times for urgent consultations decreased with adoption of a photo-based triage system.

PERIOPERATIVE ANAESTHESIA CARE : IN POLAND SYNDROME - A RARE CASE REPORT.

Poland syndrome (PS) is a rare musculoskeletal congenital anomaly with variable presentations . Incidence is 1/30,000 live births, more often seen in males than females (3:1). Several theories have been proposed regarding the genesis of PS as vascular disruption theory “ The subclavian artery disruption sequence”. Clinical features include cardiovascular (dextrocardia, atrial septal defects) musculoskeletal (club foot, toe syndactly, hemi vertebrae and scoliosis) genitourinary (renal aplasia and hypospadiasis) hemopoietic (spherocytosis and myelogenous leukemia, lymphoma) abnormalities. Absence of sternal head of pectoralis major muscle is an essential feature of PS and most often it manifests as ipsilateral thoracic cage and upper limb anomalies. Clinical features are phenotypically variable and manifestations are often subtle in infancy and childhood delaying their diagnosis and plan for intervention. PS patients does not always have functional defects but they present for cosmetic surgical repair where the safe anaesthetic intervention need to be planned .

Assessment of the COL9A1 Single Nucleotide Polymorphism with Severity of clubfoot in a paediatric population along with their biological mothers

BackgroundA frequent birth abnormality known as congenital talipes equinovarus (CTEV) results in severe abnormalities of one or both feet. The risk of CTEV has been shown to be significantly influenced by genetics. It is a typical congenital malformation. Diseases involving the articular cartilage and COL9A1 polymorphisms are linked. Materials and methodThis case parent dyad research was conducted in a premier care medical and educational facility by the Departments of Paediatric Orthopedics and Biochemistry. Children who had been diagnosed with clubfoot as well as their biological mothers took part in the study. 125 kids were able to join in the research when all the screening, inclusion, and exclusion criteria were met. Baseline demographic information was collected, including the child's age and sex, the kind of clubfoot, any family members who have the condition, and whether or not the mothers smoke or drink. Pirani score is used to clinically evaluate every case. Only one peripheral blood sample was taken from each patient, including their Biological Mothers. Resultsout of 125 children enrolled with biological mothers, Col9A1 SNP rs1135056 is substantially related. ConclusionAdditionally, patients with the GG genotype for rs592121 have a higher chance of developing CTEV than those with other genotypes. In this investigation, we found possible associations between COL9A1 gene polymorphisms in the mother and offspring with the risk of CTEV. Our research may help us comprehend the genetic makeup of CTEV better and lay the groundwork for creative intervention strategies.

Current understandings in congenital talipes equinovarus

Congenital talipes equinovarus is one of the most common lower limb congenital defects present at birth. The gold standard treatment is the Ponseti method and it harnesses the biomechanical properties of biological tissues. It involves serial gentle manipulation and casting. Part of this method is an Achilles tendon tenotomy prior to the final casts, boots and bars and if needed a tibialis anterior transfer for dynamic supination at a later stage. The Ponseti method does not result in normal feet but results in normal looking feet that are comfortable and function normally.