Clubfoot Research Articles

Decoding the dilemma of antenatal ventral body wall defects: A case report and literature review

We are presenting the case of a rare fetal polymalformative syndrome known as the limb body wall complex (LBWC) and its antenatal diagnosis. The level II Anomaly ultrasound of a primigravida female detected exencephaly, thoracoabdominoschisis, club foot, kyphoscoliosis, fetoplacental adherence, and a deficient umbilical cord, classically described in LBWC. It is imperative for radiologists to be familiar with this rare fatal entity of sporadic occurrence and to differentiate it from other non-lethal counterparts for appropriate maternal counseling and timely termination of pregnancy.

Congenital Dislocation of the Knee in the Delivery Room.

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.

Efficacy of the Ponseti method in the treatment of neglected idiopathic talipes equinovarus at a tertiary hospital in Nigeria

Objectives: Neglected clubfoot is common in our environment, for multifactorial reasons. It could cause pain and psychological distress to the patient and parents. We assessed the efficacy of the Ponseti method in the treatment of neglected clubfoot in a Nigerian Hospital. Material and Methods: This was a 15-month prospective and interventional study. Patients at least one-year-old with untreated idiopathic talipes equino varus (ITEV) or inadequately nonoperatively treated ITEV were the study population. The number of castings required for correction, tenotomy rate, dorsiflexion angle before and after tenotomy, and abduction angle after treatment were obtained. The chi-square test of independence was used to test the relationship between categorical variables. Logistic regression was used to assess if the Pirani score at the presentation predicted a successful correction at the end of the study. The level of significance was set at P < 0.05. Results: Forty-two children with 69 club feet were treated in this study. The mean age of presentation was 27.45 months (standard deviation [SD] = 19.22). The mean number of casting sessions required to achieve correction was 6.35 (SD = 1.95). The mean Pirani score at presentation was 4.27 (SD = 1.33) which reduced to 0.30 (SD = 0.35) after correction. The Pirani score at presentation had a positive correlation with the number of casts required for correction (r = 0.505, P < 0.001) but did not predict a successful correction after treatment. The success rate was 85.5%. Conclusion: The Ponseti method of treatment showed a high success rate in the treatment of neglected ITEV.

Novel PIP5K1C variant identified in a Chinese pedigree with lethal congenital contractural syndrome 3

BackgroundBiallelic pathogenic variants in PIP5K1C (MIM #606,102) lead to lethal congenital contractural syndrome 3 (LCCS3, MIM #611,369), a rare autosomal recessive genetic disorder characterized by small gestational age, severe multiple joint contractures and muscle atrophy, early death due to respiratory failure. Currently, 5 individuals with LCCS3 were reported and 5 pathogenic variants in PIP5K1C were identified. Here, we reported the two fetuses in a Chinese pedigree who displayed multiple joint contractures and other congenital anomalies.MethodsTrio-based whole-exome sequencing (WES) was performed for the parents and the recent fetus to detect the genetic cause for fetus phenotype.ResultsA novel variant, NM_012398.3: c.949_952dup, p.S318Ifs*28 and a previously reported variant, c.688_689del, p.G230Qfs*114 (ClinVar database) in PIP5K1C, were detected in the individuals, and these variants were inherited from the mother and father, respectively. We described the features of multiple joint contractures in our fetuses, including bilateral talipes equinovarus, stiffness in the limbs, extended knees, persistently closed hands and overlapping fingers, which have not been delineated detailedly in previously reported LCCS3 individuals. Furthermore, novel phenotype, bilateral dilated lateral ventricles, was revealed in one fetus.ConclusionsThese findings expanded the genetic variant spectrum of PIP5K1C and enriched the clinical features of LCCS3, which will help with the prenatal diagnosis and genetic counseling for this family.

Caregivers' perspectives of community acceptance before and after surgical treatment for their child's disability.

In Tanzania, about 600 000 youth between 5 and 24 years old have a disability. Individuals with disabilities face numerous obstacles due to social stigma. The aim of this formative evaluation is to assess how caregivers of children with correctable disabilities (e.g., cleft lip/palate, club foot, and burn scar contractures) in Tanzania perceive their community's acceptance of their child before and after surgical treatment. Semi-structured interviews were conducted with 80 caregivers of children with disabilities treated at Kafika House in Arusha, Tanzania. The constant comparative method identified themes regarding the caregivers' feelings on their child's functional abilities and experiences of stigma in their community. Caregiver perceptions of stigma before and after surgical treatment were categorized and quantified as 'positive', 'neutral' and 'negative'. Thematic analysis of the 80 interviews resulted in five major themes: (1) stigma and acceptance (pre-treatment) and (2) post-treatment; (3) functional abilities (pre-treatment) and (4) post-treatment; and (5) emotional impact (pre- and post-treatment). These themes indicate caregivers and their children experience a range of emotional impacts before and after treatment, more severe stigma before treatment, and overall better social, emotional and functional status after treatment. Frequency analysis of caregiver experiences indicated that stigma experienced by children and their families decreased from 75% before surgical treatment to 2.5% after surgery. Surgical intervention and rehabilitation of physical disabilities mitigated experiences of social stigma for both children and their caregivers. Findings support the need for expanded treatment of correctable disabilities, larger investments in community-based rehabilitation programmes and further interventions to support stigmatized parents and their children.

Application of Ponseti Principle in Ilizarov Based Fixators for Treatment of Untreated and Relapsed Club Foot

Application of Ponseti Principle in Ilizarov Based Fixators for Treatment of Untreated and Relapsed Club Foot

Simple Talectomy is a Beneficial Surgical Procedure for Talipes Equinovarus and Other Severe Neuromuscular Foot Deformities

Noninvasive techniques are gold standard to redress Severe Neuromuscular Foot Deformity (SNFD). However, simple talectomy may be considered to obtain a stable, plantigrade, pain-free foot. We present a 10-year follow-up accessing radiological correction rates, functional outcomes, complications, and patient satisfaction. This retrospective case series evaluated talectomies in 2012 to 2022. Simple talectomy was combined with Steinman pin fixation of calcaneus to tibia for approximately 6 weeks. Diagnoses primarily included arthrogryposis multiplex congenita and cerebral palsy. Indications were pain, wounds/pressure marks, severe rigidity, and residual/recurrent deformity. The primary outcome was radiological correction. Tibiotalar angle (TiTa) and tibiocalcaneal angle (TiCa) were measured on mediolateral projections. Secondary outcomes were functional scores of pain/deformity graded as good, fair or poor. Furthermore, validated patient-reported outcome measures, that is, EQ-5D-5L and the Scoliosis Research Society-30 Questionnaire (2 items) assessed health-related quality of life and patient satisfaction. Nineteen talectomies in 11 patients were analyzed. Mean follow-up was 62 months (range 9-112 months). Mean TiTa was 137° (95%CI 128;146). TiCa improved significantly: Mean difference -24° (95%CI -44;-5, p = .02). All feet became plantigrade and pain-free with no skin issues. Functional outcomes were graded as 9/19 good, 10/19 fair and 0/19 poor. Parents/primary caregivers were mainly satisfied. Perceived health was 54 (95%CI 34;75) out of 100 on a visual analogue scale, emphasizing complex medical conditions. In conclusion, simple talectomy is a suitable salvage procedure for SNFD.

Arthrogryposis is a descriptive term, not a specific disease entity: Escobar Syndrome is an example.

Children born with multiple congenital contractures have been almost always given the diagnosis of arthrogryposis multiplex congenita. Arthrogryposis is a descriptive term, not a specific disease entity. A heterogeneous group of conditions associated with multiple congenital joint contractures (mostly syndromic) should be considered. The records of seven children (four boys and three girls aged 6 months - 11 years) of different ethnic origins have been included in this study. The constellation of specific craniofacial dysmorphic features, spine malformation complex, and appendicular skeletal abnormalities in addition to camptodactyly, talipes equinovarus and rocker-bottom feet were a cluster of malformation complex encountered in our patients. Via comprehensive clinical and imaging study (3D reconstruction CT scan), definite diagnosis of Escobar Syndrome has been approached. The clinical and imaging phenotype was the key factor towards etiological understanding, treatment and genotype confirmation. We identified compound heterozygous mutations (c.459dupA [p.Val154Serfs*24] and c.794T>G [p.Leu265Serfs*24] of the CHRNG gene in four patients. Bilateral flexion contractures of the knees have been treated by using Iliazarov external fixator. Simultaneous corrections of scoliosis have been achieved by applying either dual traditional growing rods or single growing rods. The clinical and radiological phenotypic characterizations are the fundamental tool in differentiating Escobar from other forms of multiple contractures. The aim of this study are three folds, firstly to demonstrate the importance of detecting the etiological understanding in children presented with multiple contractures, secondly to refute the general conception among the vast majority of pediatricians and orthopedic surgeons that arthrogryposis multiplex is a diagnostic entity. And thirdly, we were able to detect severe spine deformity via 3D reconstruction CT scan, namely unsegmented posterior spinal bar.

The Importance of Having a Single, Dedicated Medical Team to Treat Congenital Talipes Equinovarus Using the Ponseti Method: A Retrospective Analysis of Treatment Outcomes After 3 Years of Follow-up.

Congenital talipes equinovarus (CTEV) is a relatively common pediatric orthopaedic disorder and a frequent cause of disability in adult populations. The Ponseti method has emerged as the generally preferred for treating children with CTEV. Strict adherence to this technique's basic principles is critical to achieving favorable outcomes. In 2013, our institution decided that every case of pediatric CTEV would be treated by a single dedicated medical team. The present study aimed to compare the treatment outcomes of children with CTEV treated using the Ponseti method in period I (multiple surgeons) versus those in period II (single dedicated team). We included respectively the children with CTEV treated using the Ponseti method in Geneva University Hospitals' pediatric units from 2007 to 2018. Data on patient demographics, clinical characteristics, and the treatment outcomes were collected. The primary outcome was the number of relapsed feet (treatment failure) after 3 years of follow-up. The 2 periods' outcomes were compared using χ 2 and independent Student t -tests. Run charts were used to report yearly rates of complications, minor and major recurrences, treatment failure, brace noncompliance, and feet that underwent tenotomy. A total of 48 feet (32 patients) and 42 feet (29 patients) in periods I and II were included. The periods showed similar rates for participants' characteristics. The run charts illustrated the overall improvements in treatment outcomes in period II. A total of 8 relapsed feet (5 patients) were reported, all during period I. Since all the pediatric CTEV patients at our institution began to be treated by a single dedicated medical team, we have observed a decrease in all recurrences and complications and an absence of treatment failure. These results highlight the importance of the continuity of care and strict adherence to the Ponseti method. Level-III Retrospective comparative study.

Exome sequence analysis identifies a homozygous, pathogenic, frameshift variant in the MAN2B1 gene underlying clinical variant of α-mannosidosis.

α-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. 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. 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 α-mannosidosis phenotypes are associated with a MAN2B1 gene pathogenic variant. Patients in both the families have manifested peculiar set of clinical symptoms associated with α-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 α-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 α-mannosidosis.

Comparison of total prevalence, perinatal prevalence, and livebirth prevalence of birth defects in Hunan Province, China, 2016-2020.

Birth defect of any type is undesirable and often pose a negative impact on the health and development of the newborn. Birth defects surveillance with datasets from surveillance health-related programs are useful to predict the pattern of birth defects and take preventive measures. In this study, the total prevalence, perinatal prevalence, and livebirth prevalence of birth defects were compared. Data were obtained from the Birth Defects Surveillance System in Hunan Province, China, 2016-2020. The total prevalence is the number of birth defects (including livebirths, stillbirths, and selective terminations of pregnancy) per 1,000 births (including livebirths and stillbirths). The perinatal prevalence is the number of birth defects (between 28 weeks gestation and 7 days postpartum) per 1,000 births. The livebirth prevalence is the number of liveborn birth defects per 1,000 births (unit: ‰). Underestimated proportion (unit: %) is the reduction level of perinatal prevalence or livebirth prevalence compared to the total prevalence. Prevalence with 95% confidence intervals (CI) was calculated using the log-binomial method. Chi-square tests (χ 2) were used to examine if significant differences existed in prevalence or underestimated proportion between different groups. A total of 847,755 births were included in this study, and 23,420 birth defects were identified, including 14,459 (61.74%) birth defects with gestational age > =28 weeks, and 11,465 (48.95%) birth defects in livebirths. The total prevalence, perinatal prevalence, and livebirth prevalence of birth defects were 27.63‰ (95%CI, 27.27-27.98), 17.06‰ (95%CI, 16.78-17.33), and 13.52‰ (95%CI, 13.28-13.77), respectively, and significant differences existed between them (χ2 = 4798.55, p < 0.01). Compared to the total prevalence, the perinatal prevalence and livebirth prevalence were underestimated by 38.26 and 51.05%, respectively. Significant differences existed between the total prevalence, perinatal prevalence, and livebirth prevalence of birth defects in all subgroups according to year, sex, residence, and maternal age (p < 0.05). Significant differences existed between the total prevalence, perinatal prevalence, and livebirth prevalence for 17 specific defects: congenital heart defect, cleft lip-palate, Down syndrome, talipes equinovarus, hydrocephalus, limb reduction, cleft lip, omphalocele, anal atresia, anencephaly, spina bifida, diaphragmatic hernia, encephalocele, gastroschisis, esophageal atresia, bladder exstrophy, and conjoined twins (p < 0.05). In comparison, no significant difference existed between the total prevalence, perinatal prevalence, and livebirth prevalence for 6 specific defects: polydactyly, other external ear defects, syndactyly, hypospadias, cleft palate, and anotia/microtia (p > 0.05). The total prevalence and livebirth prevalence of birth defects in Hunan Province, China, was not well studied. A systematic study was conducted to compare the total prevalence, perinatal prevalence, and livebirth prevalence of birth defects. The study reveals that significant differences existed between the total prevalence, perinatal prevalence, and livebirth prevalence of birth defects (including many specific defects), and year, sex, residence, and maternal age had significant impacts on it. The outcomes of the study will help to take preventive measures for birth defects as well as benefit the people involving public health and policymakers to improve the current scenario.

COL1A1 regulates the apoptosis of embryonic stem cells by mediating the PITX1/TBX4 signaling.

The purpose of this study is to explore the regulatory function of COL1A1 against the apoptosis of embryonic stem cells (ESCs) and the potential function in congenital talipes equinovarus (CTEV). Muscle tissues were collected from 20 children with CTEV and 20 children without CTEV, followed by detecting the expression of COL1A1 using the RT-PCR method. COL1A1 was knocked down in H1 and H9 human ESCs using the RNA interference technology, followed by determining the level of COL1A1, PITX1, TBX4, HOXD10, Fas, FasL, and Bax using the Western blotting assay. COL1A1 was found markedly upregulated in muscle tissues of CTEV children. In H1 and H9 human ESCs, compared to the empty vector, COL1A1, PITX1, TBX4, HOXD10, Fas, FasL, and Bax were found notably downregulated after transfected with the siRNA targeting COL1A1. COL1A1 induced the apoptosis of ESCs by mediating the PITX1/TBX4 signaling and might be a potential target for treating CTEV.

Role of Multiple Serial Casting beyond Standard Casting Technique in Managing Club Feet

Aim: To find the role of multiple serial casting beyond standard casting technique in managing club feet. Methodology: Cohort prospective study. Department of Orthopaedic, Chandka Medical College Hospital Larkana from July 1, 2021 to June 30, 2022. One hundred cases were enrolled. The Pirani scoring system was applied for detailed monitoring of the severity and treatment of clubfoot, and the Ponseti method technique was performed. Foot or feet were cast and fastened in an abduction brace at 95% of the correction rate being achieved. All children below two years of age who had one or both feet clubbed were included in this study. Results: The majority of the children visiting the hospital setting for treatment of clubfoot were within the age group of 0–5 months, followed by 6–12 months in 55% and 31% of the children, respectively. About 70% of the children with club feet were boys, with only 30% being girls. The baseline Pirani score was 3.47±0.523, while it decreased significantly to 0.0321±0.135 as the final Pirani score. The outcomes of the study showed that 68% of the children had excellent treatment, 10% had really good treatment, and 18% had fair treatment. Conclusion: Serial casting is a favourable technique for the treatment of clubfoot, wherein it assists in the maintenance of foot balance and proper development. Keywords: Multiple serial casting, Standard casting, Club feet

Fetal congenital talipes equinovarus: genomic abnormalities and obstetric follow-up results

Objective The etiology of congenital talipes equinovarus (CTEV) is unknown, and the relationship between chromosome microdeletion/microduplication and fetal CTEV is rarely reported. In this study, we retrospectively analyzed fetal CTEV to explore the relationship among the CTEV phenotype, chromosome microdeletion/microduplication, and obstetric outcomes. Methods Chromosome karyotype analysis and single nucleotide polymorphism (SNP) array were performed for the 68 fetuses with CTEV. Results An SNP array was performed for 68 fetuses with CTEV; pathogenic copy number variations (CNVs) were detected in eight cases (11.8%, 8/68). In addition to one case consistent with karyotype analysis, the SNP array revealed seven additional pathogenic CNVs, including three with 22q11.21 microdeletions, two with 17p12p11.2 microduplications, one with 15q11.2 microdeletions, and one with 7q11.23 microduplications. Of the seven cases carrying pathogenic CNVs, three were tested for family genetics; of these, one was de novo, and two were inherited from either the father or mother. In total, 68 fetuses with CTEV were initially identified, of which 66 cases successfully followed-up. Of these, 9 were terminated, 2 died in utero, and 55 were live births. In 9 cases, no clinical manifestations of CTEV were found at birth; the false-positive rate of prenatal ultrasound CTEVdiagnosis was thus 13.6% (9/66). Conclusion CTEV was associated with chromosome microdeletion/microduplication, the most common of which was 22q11.21 microdeletion, followed by 17p12p11.2 microduplication. Thus, further genomic detection is recommended for fetuses with CTEV showing no abnormalities on conventional karyotype analysis.

A PROSPECTIVE OBSERVATIONAL STUDY OF OUTCOME IN CHILDREN OF CLUB FOOT TREATED FOR EQUINUS CORRECTION WITH WIDE BORE NEEDLE TENOTOMY

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.

Myotonic dystrophy type 1 (Steinert disease): 29 years of experience at a tertiary pediatric hospital

BackgroundMyotonic dystrophy type 1 (DM1) is a multisystemic disorder caused by the expansion of a noncoding triplet repeat. MethodsA cross-sectional study was performed to characterize pediatric patients with DM1 followed in a tertiary hospital over the last 29 years, comparing the congenital and the childhood/juvenile-onset forms. ResultsThirty-seven patients (59.5 % male) were included, with a median age at the latest assessment of 16.8 years and a median follow-up of 7.7 years. Eleven patients were lost to follow-up, and two died. Twenty-five had congenital DM1 (CDM1), and this form had significantly higher triplet repeat length, history of polyhydramnios, lower median age at diagnosis, and first and last assessment. Common symptoms included distal skeletal muscle weakness (75.7 %) and facial involvement (94.6 %), along with dysphonia/dysarthria (73.0 %) and myotonia (73.0 %). Delayed independent ambulation frequency was significantly higher for CDM1 cases. Skeletal deformities affected 54.1 %, with talipes equinovarus and scoliosis occurring exclusively in CDM1 patients. Cognitive deficit was present in 75.7 % of cases. Polysomnograms revealed seven cases of obstructive sleep apnea and two of hypoventilation. Noninvasive ventilation was used in nine cases, and three had recurrent respiratory infections. The cardiovascular system was affected in 21.6 % of cases. Gastrointestinal issues included constipation (24.3 %), feeding difficulties (16.2 %), and cholelithiasis (5.4 %). Cataracts, epilepsy, and diabetes mellitus were reported in two cases each. ConclusionOur study highlights the diverse spectrum of severity and multiorgan involvement of DM1 in pediatric patients. It underscores the importance of establishing a pediatric-specific standard of care to enhance health outcomes through comprehensive multidisciplinary management.

Clinical and Sonographic Evaluation of Percutaneous Achilles Tendon Tenotomy in Idiopathic Clubfoot: A Prospective Study

Objectives: Idiopathic Congenital Talipes Equino Varus (CTEV), commonly referred to as Clubfoot, is a complex musculoskeletal deformity affecting infants. The Ponseti technique, a gold standard approach, has emerged as an effective treatment. This study aims to evaluate the clinical and sonographic outcomes of percutaneous Achilles tendon tenotomy in children with idiopathic clubfoot who underwent the Ponseti procedure. Methods: A prospective study was conducted at the JIPMER Department of Orthopaedics, involving 41 feet with residual equinus deformity following Ponseti treatment. Infants with idiopathic clubfoot were included. Clinical and sonographic evaluations were performed, percutaneous Achilles tendon tenotomy was performed. Parameters were measured, Data were statistically analyzed using Kolmogorov-Smirnov tests, paired t-tests, ANOVA, and correlation analysis. Results: 29 infants (41 feet), primarily boys (89.7%) were studied. Following percutaneous tenotomy, clinical improvement was observed, with a mean increase in dorsiflexion of 20-25 degrees. Sonographic parameters showed significant improvement in tibio calcaneal distance, talocalcaneal divergence, and metaphyseal-talocalcaneal angle post-tenotomy (p&lt;0.05). Positive correlations were found between clinical and sonographic improvements. Conclusion: Clinical improvement of hindfoot deformity following percutaneous Achilles tendon tenotomy in idiopathic clubfeet correlates with the sonological improvement of talo calcaneal, tibio calcaneal angles and tibio calcaneal distance.

Prenatal Magnetic Resonance Imaging helps Discover Cerebellar Dysplasia or Malformations in Foetuses.

This study aimed to characterize and assess the diagnostic value of prenatal magnetic resonance (MR) imaging in detecting fetal cerebellar hypoplasia/dysplasia and developmental malformations. Reports of suspected intracranial abnormalities were retrospectively collected on ultrasound screening (US), and MR images of fetuses were reviewed at our institution over a 5-year period on picture archiving and communication system (PACS) servers. Two experienced radiologists recorded major abnormalities and coexisting abnormalities at the reading of the census. The results of the MRI were compared against the US in each case. For prenatal MR imaging, we enlisted a total of 121 patients (mean gestational week, 24.5 ± 4.7 weeks). This included 28 cases with normal findings of MR imaging, 62 cases with findings of cerebellar hypoplasia or dysplasia, and the remaining 31 cases with other abnormities findings. Cerebral malformations cases included agenesis of the corpus callosum, cerebral hemorrhage, hydrocephalus, holoprosencephaly, ventriculomegaly, and brainstem/gyri malformation. Cerebellar abnormalities included vermis absence, cerebellar tonsil hernia, Dandy-Walker malformation, Blake's pouch cysts, arachnoid cysts, and intracranial hemorrhage. Other systemic malformation cases included tethered cord syndromes (9 cases), cleft lip and palate (1 case), club foot (1 case), and cardiac malformation (1 case). In 12 cases (24.5%), compared to the US, MR imaging proved the value of confirming the diagnosis and/or even yielded more findings on abnormalities. Prenatal MR imaging can better visualize systemic malformations coexisting with cerebellar abnormalities. MR imaging, a complementary means to the US, can aid in prenatal counseling and treatment selection for term delivery.

Determining the Optimal Treatment for Idiopathic Clubfoot: A Network Meta-Analysis of Randomized Controlled Trials.

Clubfoot, or congenital talipes equinovarus deformity, is a common anomaly affecting the foot in infants. However, clinical equipoise remains between different interventions, especially those based on the Ponseti method. The aim of this study was to examine the clinical outcomes of the various interventions for treating idiopathic clubfoot. Searches of the Cochrane Central Register of Controlled Trials (CENTRAL), MEDLINE, Embase, Scopus, and CINAHL were conducted. Randomized controlled trials comparing different interventions, including the Ponseti method, accelerated Ponseti method, Ponseti method with botulinum toxin type A (Botox) injection, Ponseti method with early tibialis anterior tendon transfer (TATT), Kite method, and surgical treatment, were included. Network meta-analyses (NMAs) were conducted according to the PRISMA (Preferred Reporting Items for Systematic reviews and Meta-Analyses) reporting guidelines. The primary outcomes were the change in total Pirani score and maximal ankle dorsiflexion. Secondary outcomes were the number of casts, time in casts, and rates of tenotomy, total complications, relapse, adverse events, and additional required major surgery. Eleven randomized controlled trials involving 740 feet were included. According to the SUCRA (surface under the cumulative ranking curve)-based relative ranking, the Ponseti method was associated with the best outcomes in terms of Pirani score changes, maximal ankle dorsiflexion, number of casts, adverse events, and total complications, whereas the accelerated Ponseti method was associated with the best outcomes in terms of time in casts and tenotomy rate. Early TATT ranked best in terms of relapse rate. The Ponseti method with Botox injection was associated with the best outcomes in terms of the need for additional major surgery. The NMAs suggest that the Ponseti method is the optimal treatment overall, despite potential drawbacks such as longer time in casts and higher rates of tenotomy, relapse, and the need for additional surgery compared with other modified approaches. Therefore, clinicians should consider how treatments can be tailored individually. Therapeutic Level I . See Instructions for Authors for a complete description of levels of evidence.

Prenatal diagnosis and genetic etiology analysis of talipes equinovarus by chromosomal microarray analysis

BackgroundWith the advancement of molecular technology, fetal talipes equinovarus (TE) is believed to be not only associated with chromosome aneuploidy, but also related to chromosomal microdeletion and microduplication. The study aimed to explore the molecular etiology of fetal TE and provide more information for the clinical screening and genetic counseling of TE by Chromosomal Microarray Analysis (CMA).MethodsThis retrospectively study included 131 fetuses with TE identified by ultrasonography. Conventional karyotyping and SNP array analysis were performed for all the subjects. They were divided into isolated TE group (n = 55) and complex group (n = 76) according to structural anomalies.ResultsAmong the total of 131 fetuses, karyotype analysis found 12(9.2%) abnormal results, while SNP array found 27 (20.6%) cases. Trisomy 18 was detected most frequently among abnormal karyotypes. The detection rate of SNP array was significantly higher than that of traditional chromosome karyotype analysis (P < 0.05). SNP array detected 15 (11.5%) cases of submicroscopic abnormalities that karyotype analysis did not find. The most common CNV was the 22q11.2 microdeletion. For both analyses, the overall detection rates were significantly higher in the complex TE group than in the isolated TE group (karyotype: P < 0.05; SNP array: P < 0.05). The incremental yield of chromosomal abnormalities in fetuses with unilateral TE (22.0%) was higher than in fetuses with bilateral TE (19.8%), but this difference was not statistically significant (P > 0.05). Abnormal chromosomes were most frequently detected in fetuses with TE plus cardiovascular system abnormalities.ConclusionFetal TE is related to chromosomal microdeletion or microduplication. Prenatal diagnosis is recommended for fetuses with TE, and CMA testing is preferred. CMA can improve the detection rate of chromosomal abnormalities associated with fetal TE, especially in pregnancies with complex TE.