[Correlation analysis between Pirani score and talo-navicular angle,calcaneo-cuboid angle and tibio-calcaneall angle of infant clubfoot under ultrasound].

Objective: To explore the evaluation effect of ultrasonography and Pirani score on tarsal deformity, treatment effect and pseudo-correction of congenital clubfoot in infants and young children, and the correlation between the two methods. Methods: This is a retrospective case series study. The clinical data of 26 children (40 feet) with congenital clubfoot who were evaluated by ultrasonography in the Third Affiliated Hospital of Zhengzhou University from January 2020 to January 2023 were retrospectively collected. There were 16 males and 10 females. The age at the first ultrasound examination was (M(IQR)) 9.0 (18.0) days (range: 1 to 46 days). All patients were treated with Ponseti method by the same physician. The Pirani scores before and after treatment and at the last examination, and the talonavicular angle, calcaneocuboid angle and tibiocalcaneal angle measured by ultrasound were collected, and the treatment and follow-up were recorded. Paired sample t test, repeated measures analysis of variance or Kruskal-Wallis test were used for data comparison, and Spearman correlation analysis was used for correlation analysis. The receiver operating characteristic curve was used to calculate the efficacy of ultrasound in evaluating different Pirani scores. Results: The number of plaster fixation in 26 children was 4.0 (1.0) times (range: 2 to 8 times). The medial talonavicular angle and posterior tibiocalcaneal angle were significantly improved after treatment and at the last follow-up compared with those before treatment, and the differences were statistically significant (all P<0.01). There was no difference in lateral calcaneocuboid angle before and after treatment and at the last follow-up (F=1.971, P>0.05). Pseudo-correction occurred in 2 cases (2 feet) during the treatment, with an incidence of 5%. Correlation analysis showed that there was a moderate positive correlation between talonavicular angle and Pirani midfoot score (r=0.480, P<0.01). There was no correlation between calcaneocuboid angle and Pirani midfoot score (r=0.114, P=0.105). There was a moderate negative correlation between tibial heel angle and Pirani hindfoot score (r=-0.566, P<0.01). The cut-off point of Pirani midfoot score of 1.5 was 38.78°, the sensitivity was 0.90, the specificity was 0.56, and the area under the curve was 0.75. The cut-off value of angle was 27.51 °, the sensitivity was 0.16, the specificity was 0.92, and the area under the curve was 0.44.The cut-off points of Pirani midfoot score of 3.0 were 45.08°and 9.96°, the sensitivity was 0.94 and 0.91, the specificity was 0.37 and 0.42, and the area under the curve was 0.59 and 0.62, respectively. The cut-off values of Pirani hindfoot score of 2.0 and 3.0 were 167.46° and 160.15°, respectively. The sensitivity was 0.75 and 0.67, the specificity was 0.81 and 0.83, and the area under the curve was 0.78 and 0.71, respectively. Conclusion: Ultrasound can complement with Pirani score, visually and dynamically observe the morphology and position changes of talonavicular joint, calcaneocuboid joint and tibiotalocalcaneal joint, monitor the recovery and pseudo-correction of tarsal bones, and better evaluate the therapeutic effect.

Talar neck rotation angle in adults with clubfoot deformity: Observed values and intra- and inter-observer reliability using weightbearing CT.

INTRODUCTION: Adults presenting with symptomatic clubfoot represent a challenging cohort of patients. An appreciation of the location and degree of deformities is essential for management. Talar anatomy is often abnormal with varus within the talar neck, however, there are few reproducible methods which quantify talar neck deformity in adults. We describe a technique of assessing talar neck deformity, and report on observed values and intra- / inter-observer reliability. METHODS: This was a single-centre, retrospective study including 96 feet from 56 adult patients with clubfeet (82 feet had clubfoot deformity, 14 were normal). Mean age was 34.3 ± 16.9 years and 31 (55.3%) were male. Weight-bearing CT scans captured as part of routine clinical care were analysed. Image reformats were oriented parallel to the long axis of the talus in the sagittal plane. In the corresponding axial plane two lines were drawn (on separate slices): 1) a line perpendicular to the intermalleolar axis, 2) a line connecting the midpoints of the talar head and narrowest part of the talar neck. The talar neck rotation angle (TNR angle) was the angle formed between these lines. Intraclass correlation coefficients (ICC) were performed for intra- and inter-observer reliability. RESULTS: Mean TNR angle in clubfeet was 27.6 ± 12.2 degrees (95%CI = 25.0 to 30.2 degrees). Mean TNR angle in normal feet was 18.7 ± 5.1 degrees (95%CI = 16.0 to 21.4 degrees) (p < 0.001). The ICC for clubfeet was 0.944 (95%CI = 0.913 to 0.964) for intra-observer agreement, and 0.896 (95%CI = 0.837 to 0.932) for inter-observer agreement. CONCLUSION: This measurement technique demonstrated excellent intra- and inter-observer agreement. It also demonstrated that compared to normal feet, clubfeet had about 9 degrees of increased varus angulation of the talar neck. This technique and data may be used for future research into clubfoot deformity and in planning treatment. LEVEL OF CLINICAL EVIDENCE: 3.

Prenatal diagnosis of isolated bilateral clubfoot: Is amniocentesis indicated?

INTRODUCTION: The aim of this study is to evaluate the benefit of cytogenetic testing by amniocentesis after an ultrasound diagnosis of isolated bilateral talipes equinovarus. MATERIAL AND METHODS: This multicenter observational retrospective study includes all prenatally diagnosed cases of isolated bilateral talipes equinovarus in five fetal medicine centers from 2012 through 2021. Ultrasound data, amniocentesis results, biochemical analyses of amniotic fluid and parental blood samples to test neuromuscular diseases, pregnancy outcomes, and postnatal outcomes were collected for each patient. RESULTS: In all, 214 fetuses with isolated bilateral talipes equinovarus were analyzed. A first-degree family history of talipes equinovarus existed in 9.8% (21/214) of our cohort. Amniocentesis was proposed to 86.0% (184/214) and performed in 70.1% (129/184) of cases. Of the 184 karyotypes performed, two (1.6%) were abnormal (one trisomy 21 and one triple X syndrome). Of the 103 microarrays performed, two (1.9%) revealed a pathogenic copy number variation (one with a de novo 18p deletion and one with a de novo 22q11.2 deletion) (DiGeorge syndrome). Neuromuscular diseases (spinal muscular amyotrophy, myasthenia gravis, and Steinert disease) were tested for in 56 fetuses (27.6%); all were negative. Overall, 97.6% (165/169) of fetuses were live-born, and the diagnosis of isolated bilateral talipes equinovarus was confirmed for 98.6% (139/141). Three medical terminations of pregnancy were performed (for the fetuses diagnosed with Down syndrome, DiGeorge syndrome, and the 18p deletion). Telephone calls (at a mean follow-up age of 4.5 years) were made to all parents to collect medium-term and long-term follow-up information, and 70 (33.0%) families were successfully contacted. Two reported a rare genetic disease diagnosed postnatally (one primary microcephaly and one infantile glycine encephalopathy). Parents did not report any noticeably abnormal psychomotor development among the other children during this data collection. CONCLUSIONS: Despite the low rate of pathogenic chromosomal abnormalities diagnosed prenatally after this ultrasound diagnosis, the risk of chromosomal aberration exceeds the risks of amniocentesis. These data may be helpful in prenatal counseling situations.

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

BACKGROUND: With 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). METHODS: This 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. RESULTS: Among 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. CONCLUSION: Fetal 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.

A novel PIEZO2 mutation in a fetus from a Chinese family with Gordon syndrome.

We describe a fetus from a Chinese family whose parents were both healthy but showed multiple malformations, including clubfoot, camptodactyly, micrognathia, and cleft palate. Genomic DNA was extracted from the peripheral blood of the proband's parents and skeletal muscle tissue from the aborted fetus to determine the diagnosis and underlying cause. Whole-exome sequencing revealed that the fetus was heterozygous for a novel variant of uncertain significance in exon 56 (c.8576G>A; p.Trp2859*) of the Piezo-type mechanosensitive ion channel component 2 gene (PIEZO2) (NM_001378183.1). A diagnosis of Gordon syndrome (GS) was made from the presence of this variant and ultrasonic manifestation. Sanger sequencing of the proband's parents resulted in normal chromatograms, suggesting that this was either a de novo variant in the fetus or, less likely, the result of germline mosaicism in the proband's mother or father. This is the first description of GS caused by a PIEZO2 variant in which the fetus was the proband. A prenatal diagnosis of GS can be established by fetal ultrasound examination combined with genetic testing.

A study on the effect of radiographic angles on clubfoot's recurrence.

Clubfoot is one of the common orthopaedic deformities. However, regardless of its' treatment high success rate, recurrence of the deformity is a serious issue. The aim of this study is to evaluate if radiographic angles can be used for clubfoot recurrence prediction. This is a prospective study on 91 patients (134 feet) with mean age of 9.5 ± 2.3 days and male/female ratio of 2/1 on patients with congenital clubfoot admitted to our hospital. Pre and one-year post-tenotomy tibiocalcaneal (TIC-L), talocalcaneal (TC-L) and calcaneal-first metatarsal angles (C1M-L) in the lateral view of the patients' radiographs, and their recurrence status until three years were measured. Ten feet experienced relapse. The mean pre and one-year follow-up measurements of TC-L, C1M-L, and TIC-L angles were significantly different between patients who experienced relapse and others (P < .05). The cut-off points of 1.75 and 6.5 for one-year follow-up Pirani and Dimeglio scores for recurrence prediction were suggested respectively. Also, cut-off points of 26.5 and 79.5 for one-year follow-up TC-L and TIC-L angles for recurrence prediction were calculated, respectively. We demonstrated that the pre-tenotomy and one-year follow-up TIC-L, TC-L, and C1M-L angles are helpful in clubfoot recurrence prediction after Ponseti treatment.

Indication for Achilles Tenotomy in Congenital Clubfoot: Effectiveness of Using the Tibio-Plantar Fascia Angle as a Radiographic Parameter.

Congenital clubfoot is one of the most common deformities in children, and currently, the Ponseti method is used worldwide because of its favorable short-term results. With the Ponseti method, the indication for Achilles tenotomy is traditionally based on only physical examination findings; however, some surgeons have also utilized plain radiographs. Because using physical examinations to determine the degree of hindfoot dorsiflexion for the indication of tenotomy can lead to underestimation. We developed and utilized the effectiveness of the tibio-plantar fascia angle (Ti-P angle) in the lateral maximum dorsiflexion view in determining the need for Achilles tenotomy. A retrospective analysis of consecutive 26 patients with congenital idiopathic clubfeet (37 feet) was performed. Whether Achilles tenotomy was indicated was determined based on physical examination for a former period (Group P). For the latter period, whether tenotomy was indicated was determined by referencing radiographs (Group X). No significant differences were found in any of the background factors or severity between Group P and Group X. Cases with larger tibiocalcaneal and Ti-P angles were more likely to require Achilles tenotomy or additional soft tissue release. An angle of more than 72° of the Ti-P angle demonstrated adequate specificity for the indication of Achilles tenotomy. The radiographic lateral tibio-plantar fascia angle is useful for deciding whether a tenotomy needs to be performed.

Ankle and Foot Deformities in Children.

Ankle and foot deformity is one of the most common musculoskeletal disorders in children and a leading cause of functional impairment and diminished quality of life when not treated. A spectrum of conditions may produce foot and ankle deformities, with congenital disorders the most frequent cause, followed by acquired conditions. Congenital disorders include congenital talipes equinovarus or congenital clubfoot, metatarsus adductus, skewfoot, congenital vertical talus, and tarsal coalition.Some of these deformities are frequent and easily diagnosed based on clinical features, but clinical overlap between pathologies can be challenging. Thus imaging plays a paramount role in evaluating these patients. Radiographs are the first imaging modality of choice, but they may not be sufficient in infants due to the lack of ossification of the tarsal bones. Ultrasonography allows not only a detailed visualization of the cartilaginous structures but also permits a dynamic study of the foot and ankle. Computed tomography may be necessary in certain conditions such as tarsal coalitions.

Complex, atypical clubfoot: follow-up after up to 16 years reveals a high risk of relapse but good functional and radiological outcomes.

INTRODUCTION: The treatment of complex atypical clubfoot poses many challenges. In this paper, we report on the course of complex clubfoot, primary correction using the modified Ponseti method and midterm outcomes. Special consideration is given to clinical and radiological changes in cases of relapse. MATERIALS AND METHODS: Twenty-seven cases of complex, atypical, non-syndromic clubfoot were treated in 16 children between 2004 and 2012. Patient data, treatment data, functional outcomes and, in the relapse cohort, radiological findings were documented during the course of treatment. The radiological findings were correlated with the functional outcomes. RESULTS: All atypical complex clubfeet could be corrected using a modified form of the Ponseti method. Over an average study period of 11.6 years, 66.6% (n = 18) of clubfeet relapsed. Correction after relapse showed an average dorsiflexion of 11.3° during a 5-years' follow-up period. Radiological results showed residual clubfoot pathologies such as a medialized navicular bone in four clubfeet. There were no instances of subluxation or dislocation of the talonavicular joint. Extensive release surgery was not necessary. Nevertheless, after 2.5 preoperative casts (1-5 casts), bone correction was performed in n = 3 feet in addition to Achilles tendon lengthening and tibialis anterior tendon transfer. CONCLUSION: Good primary correction of complex clubfoot using the modified Ponseti technique results in a high recurrence rate in the medium term. Relapse treatment without peritalar arthrolysis procedures produces good functional results even though minor residual radiological pathologies did persist in a minor number of cases.

Anterior Distal Tibial Guided Growth for recurrent equinus deformity in idiopathic Congenital Talipes Equinovarus treated with the Ponseti method.

INTRODUCTION: Distal Anterior Tibial Guided Growth has been shown to be useful to correct recurrent equinus deformity after open surgical release for Congenital Talipes Equinovarus. This has not been evaluated in a recurrence after use of the Ponseti method, where soft tissue releases are currently understood as the mainstay of treatment. METHODS: Patients with recurrence of equinus component of CTEV, who underwent DATGG with at least 6-month follow-up were identified retrospectively. The criteria for performing this procedure were (1) equinus not correctable to neutral passively (2) the feeling of a bony block to dorsiflexion clinically as evidenced by a supple Achilles' tendon at maximum dorsiflexion and (3)a finding of a flat-top talus radiologically. Successful treatment was defined by the achievement of heel strike on observation of gait. Details of the index procedure including concurrent procedures, any complications and their treatment, past and subsequent treatment episodes were retrieved from electronic patient records. Pre-op and last available post-op X-rays were evaluated for change in the anterior distal tibial angle and for flat-top talus deformity. RESULTS: We identified 22 feet in 16 patients, with an average follow-up was 25 (8.8-47.3) months. The mean aDTA changed from 88.9 (82.3-94.5) to 77.0 (65.0-83.9) degrees, which was statistically significant (p < 0.0001) using the Paired t-test. Clinically, 17 feet (77 %) obtained a plantigrade foot with a normal heel strike. Complications were identified in 5 feet and include staple migration, oversized staple, superficial infection, iatrogenic varus deformity. Recurrence after completed treatment was noted in one foot. CONCLUSION: This procedure should form a part of the armamentarium of procedures for treating equinus component of CTEV recurrences even in feet not treated previously by open procedures. When used in patients without significant surgical scarring it helps to address bony and soft-tissue factors, leading to effective treatment. LEVEL OF EVIDENCE: Therapeutic Level IV.

Functional Implications of Flat-Topped Talus Following Treatment of Idiopathic Clubfoot Deformity.

BACKGROUND: Though flatness of the talar dome (TD) is a potential consequence of operative and nonoperative clubfoot management, the functional impact of this deformity is not well understood. This study analyzes the relationship between TD morphology and ankle function at skeletal maturity in patients treated for idiopathic clubfoot during infancy. METHODS: 33 skeletally mature patients (average age 17.9 years) with 48 idiopathic clubfeet were identified. Weightbearing radiographs, gait analysis, and patient-reported outcomes using the Pediatric Orthopaedic Data Collection Instrument (PODCI) were obtained. Radius of curvature (ROC) of the TD and tibial plafond were measured along with other parameters of talar and calcaneal morphology. All measurements were correlated to PODCI scores and gait analysis data. RESULTS: Patients demonstrated marked variability in ROC of the TD (mean 30.8 mm, SD 13.6 mm), TD radius to talar length (R/L) ratio (mean 0.56, SD 0.28), opening angle of the TD (alpha angle) (mean 89.6°, SD 28.4°), and tibiotalar incongruity index (mean 0.18, SD 0.16). Increased tibiotalar incongruity index correlated with decreased maximum plantar flexion (r = ‒0.325, P = .02). A less acute alpha angle of the talar dome correlated with increased maximum ankle power generation (r = 0.321, P = .03) as did increased length of the talar neck (r = 0.358, P = .013). Increased tibiotalar incongruity index correlated negatively with PODCI global function domain scores (r = ‒0.490, P = .04; r = ‒0.381, P = .03, respectively), whereas length of the talar body correlated with higher global function scores (r = 0.376, P = .03) and lower pain scores (r = 0.350, P = .046). CONCLUSION: At skeletal maturity, flattening of the talar dome and tibiotalar incongruity on plain radiographs correlate modestly with gait changes, whereas tibiotalar incongruity and length of the talar body, not flatness of the talar dome, correlate with decreased patient-reported outcome scores. LEVEL OF EVIDENCE: Level III, prognostic.

Calf circumferences in fetuses and neonates with and without talipes equinovares. A prospective cohort study.

OBJECTIVE: Children and adults with talipes equinovarus (TEV) have smaller calves and shorter feet compared to non-affected controls. Do these changes have a prenatal onset? METHODS: A prospective cohort study (January 2020-July 2021) was conducted with serial ultrasonographic measurements at 20 and 28 weeks gestation and measurements directly and 6 weeks after birth. Calf circumference and width, foot length and length of humerus, ulna, radius, femur, tibia and fibula were measured in TEV and were compared to a control population. Calculated sample size necessitated a minimal population of 10 cases with TEV and 50 controls. RESULTS: Twenty cases with TEV and 62 controls were included. Fetal calf circumference (p < 0.001) and width (p < 0.001) were smaller in the TEV group in comparison to the control group, which persisted after birth. Growth in foot length (p < 0.001) and calf width (p 0.003) declined prenatally over time. The bone lengths and upper leg circumference were not smaller or shorter in TEV compared to controls. CONCLUSION: This prospective cohort study demonstrated the prenatal onset of reduced calf and foot size in fetuses with TEV from 20 weeks and onwards, which persists directly after birth. To investigate whether reduction in circumference initiates TEV or is caused by TEV, further examination is needed.

Biomechanical application of finite elements in the orthopedics of stiff clubfoot.

BACKGROUND: The purpose of this study was to evaluate the effect of varying the different correction angles of hindfoot osteotomy orthosis on the biomechanical changes of the adjacent joints after triple arthrodesis in adult patients with stiff clubfoot to determine the optimal hindfoot correction angle and provide a biomechanical basis for the correction of hindfoot deformity in patients with stiff clubfoot. METHODS: A 26-year-old male patient with a stiff left clubfoot was selected for the study, and his ankle and foot were scanned using dual-source computed tomography. A three-dimensional finite element model of the ankle was established, and after the validity of the model was verified by plantar pressure experiments, triple arthrodesis was simulated to analyze the biomechanical changes of the adjacent joints under the same load with "3°" of posterior varus, "0°" of a neutral position and "3°, 6°, 9°" of valgus as the correction angles. RESULTS: The peak plantar pressure calculated by the finite element model of the clubfoot was in good agreement with the actual plantar pressure measurements, with an error of less than 1%. In triple arthrodesis, the peak von Mises stress in the adjacent articular cartilage was significantly different and less than the preoperative stress when the corrected angle of the hindfoot was valgus "6°". In comparison, the peak von Mises stress in the adjacent articular cartilage was not significantly different in varus "3°", neutral "0°", valgus "3°" and valgus "9°" compared with the preoperative stress. CONCLUSION: The results of this study showed that different angles of hindfoot correction in triple arthrodesis did not increase the peak von Mises stress in the adjacent joints, which may not lead to the development of arthritis in the adjacent joint, and a hindfoot correction angle of "6°" of valgus significantly reduced the peak von Mises stress in the adjacent joints after triple arthrodesis.

Prenatal isolated clubfoot increases the risk for clinically significant exome sequencing results.

OBJECTIVE: To examine the diagnostic yield of exome sequencing (ES) in singleton pregnancies with isolated fetal clubfoot. METHODS: Clinical data from singleton pregnancies with a sonographic diagnosis of isolated clubfoot and ES results between 2018 and 2021 were retrospectively obtained from a single referral medical center. The recorded data include maternal age, gestational age at sonographic diagnosis, the indication for genetic testing, ES results, and pregnancy outcomes. RESULTS: During the study period, 38 fetuses were prenatally diagnosed with isolated clubfoot by ultrasound and underwent ES after the copy number variant analysis was non-diagnostic. Through the trio-ES analysis, pathogenic or likely pathogenic variants were detected in 4 of 38 (10.5%) with the following genes: BRPF1, ANKRD17, FLNA, and KIF1A. All are de novo with three of autosomal dominant inheritance and one of X-linked recessive inheritance. CONCLUSION: Sonographic diagnosis of clubfoot, even isolated, increases the risk for monogenic syndromes. Exome sequencing should be an option for genetic investigation for such pregnancies.

Genetic studies in isolated bilateral clubfoot detected by prenatal ultrasound.

OBJECTIVE: To evaluate the contribution of genetic investigations in case of isolated bilateral clubfoot detected by routine prenatal ultrasound. Pathogenic Copy Number Variations is about 3.9% in fetuses with isolated clubfoot (uni- or bilateral). We hypothesize that this rate could be higher in a homogenous group of fetuses with bilateral clubfoot. METHODS: This retrospective single-center study included all women referred to our fetal-medicine center between 2013 and 2020 after ultrasound detection of isolated bilateral clubfoot. Genetic counseling was offered in which the woman was offered an amniocentesis for CMA and targeted investigation for Prader-Willi Syndrome (PWS), Steinert's disease and Spinal Muscular Atrophy (SMA). RESULTS: 34 women were referred, 18 of them consented to undergo genetic studies by amniocentesis (18/34; 52.9%). Pathogenic copy number variations (CNVs) were found in 2/18 (11.1%) of cases. One of these CNVs was directly linked to the clubfoot pathology (a deletion in 5q31.1 containing PITX1 gene). Four fetuses (4/18, 22.2%) had variants of unknown significance (VUS). No PWS, SMA or Steinert's disease was found. No case diagnosed with isolated clubfoot prenatally had additional anomalies postnatally. CONCLUSIONS: In the case of bilateral isolated clubfoot detected at the antenatal ultrasound, invasive prenatal testing should be offered, and if accepted, a CMA should be done, as pathogenic variations were observed in up to 11.1% of women who got amniocentesis. The findings of this study do not support the systematic recommendation of molecular studies for PWS, SMA, Steinert's disease.

Prenatal Diagnosis of Talipes Equinovarus by Ultrasound and Chromosomal Microarray Analysis: A Chinese Single-Center Retrospective Study.

Background: There are few studies on the detection rate by chromosomal microarray analysis (CMA) of the prenatal diagnosis of talipes equinovarus (TE) compared to conventional karyotyping. We aimed to explore the molecular etiology of fetal TE and examine the detection rate by CMA, which provides more information for the clinical screening and genetic counseling of TE. Methods: In this retrospective study, pregnancies diagnosed with fetal TE were enrolled and clinical data for all cases were retrieved from our medical record database, including demographic data for pregnancies, ultrasound findings, karyotype/CMA results, and pregnant and perinatal outcomes. Results: Among the 164 patients, 17 (10.4%) clinically significant variants were detected by CMA. In 148 singleton pregnancies, the diagnostic rate of clinically significant variants was significantly higher in the non-isolated TE group than in the isolated TE group (10/37, 27.0% vs. 6/111, 5.4%, P < 0.001). In twin pregnancies, 1 (6.3%) pathogenic copy number variant was present in the other 16 twin pregnancies. Conclusions: This study demonstrates that CMA is useful for the prenatal genetic diagnosis of fetal TE. Fetal TE with the associated structural malformation correlates with a higher probability of clinically significant variants. This data may aid prenatal diagnosis and genetic counseling for fetal TE.

Clinical, radiological, pedobarographic, and quality of life outcomes of the Ponseti treatment for clubfoot: a prospective study.

BACKGROUND: Talipes equinovarus, also known as clubfoot, is a congenital anomaly that affects one newborn per 1000 live births. Its standard treatment strategy is Ponseti casting management. This study aims to report the long-term outcomes of the Ponseti treatment in Iran. METHODS: A prospective cohort study was enrolled to evaluate clinical outcomes, radiological results, pedobarographic measurements, and quality of life after the Ponseti treatment in patients with clubfoot who were followed for at least five years. RESULTS: In this study, 25 clubfeet of 18 patients were included. Significant reductions in Pirani, Dimeglio, and CAP scores, improved ankle dorsiflexion, and acceptable pedobarographic indices were observed in this study. From the radiological evaluation indices, the calcaneal pitch and lateral talus-first metatarsal angles were significantly reduced. After five years of treatment, patients' quality of life was favorable, which was better in females. This study showed that the results of the Ponseti treatment remained acceptable after five years. CONCLUSIONS: The Ponseti management for clubfoot in the long term appears to maintain significant improvements. However, the recurrence rate - albeit without disruption to daily activities - cannot be ignored.

Assessment of early Achilles tenotomy in the newborn idiopathic pes equinovarus.

We aimed to evaluate the clinical and radiological results of early Achilles tenotomy which was performed before Ponseti method in PEV deformities. 37 feet of 26 patients with Dimeglio type 3 and 4 deformities were included in the study. Unlike the classical Ponseti method, patients underwent a mini-open Achilles tenotomy before the first cast. 6-month follow-up of the foot deformities were assessed using Dimeglio classification clinically and lateral talocalcaneal and tibiocalcaneal angles radiologically. There were 20 male and 6 female patients with the median age of 14 days (4-37 days) and 11 bilateral and 15 unilateral deformities. The average follow-up period was 7 months (6-12 months). The mean Dimeglio scores before the Achilles tenotomy and Dimeglio score at the 6 th month follow-up were 14 (11-16) and 4 (4-6) for the right feet, 13 (10-16) and 4 (4-6) for the left feet respectively. The mean number of casting was 3.8 ± 0.4 for right feet and 3.7 ± 0.4 for left feet. The mean talocalcaneal angle was 24 ± 8.2 degrees for the right feet and 27 ± 8.2 degrees for the left feet. The mean tibiocalcaneal angle was 69 ± 12 for the right feet and 72 ± 14 degrees for the left feet. Early Achilles tenotomy can decrease the total number of cast for deformity correction in Ponseti method and provide good clinical and radiological outcomes at 6 th month follow-up in severe PEV deformities according to Dimeglio classification.

Relapse in surgically treated clubfoot: treatment approach and midterm results of revision surgery.

BACKGROUND AND AIM: The rate of recurrence of surgically early treated clubfoot is around 25% and the treatment of clubfoot recurrence remains debated. The aim of the study is to report a case series of 15 patients (16 feet) surgically treated for relapse of surgically treated clubfoot. METHODS: A careful clinical and radiological evaluation of each deformity was made. The treatment algorithm was based on the pathological anatomy of the relapse, on the patient's age and on the use of a combination of surgical steps involving bones, soft tissue or both. RESULTS: The average age of patients at the time of relapse treatment was 8 years and 6 months, with an average follow-up of 2 years. The average Avatar score was 77 (good result). The 16 feet submitted to evaluation obtained the following scores: 6 excellent, 4 good, 4 mediocre and 2 poor. CONCLUSIONS: The number of previous interventions does not seem to be related to the outcome. The clinical and radiological evaluation of the deformity is the most important step for the right application of the algorithm. The use of a treatment approach based on age and on the systematic treatment of bony and soft tissues leads to reproducible clinical results with functional improvement.