RESUMO
Congenital talipes equinovarus (CTEV), also known as clubfoot, is a common musculoskeletal entity that affects one to two per 1000 live births worldwide. Imaging modalities including radiography, US, and MRI have emerged as valuable tools for the diagnosis, treatment, and monitoring of CTEV. The deformity is characterized by midfoot cavus, forefoot adductus, and hindfoot varus and equinus. The Ponseti method of manipulation and serial casting is the standard treatment of CTEV. Radiography shows the anatomy, position, and relationships of the different bones of the foot. US allows accurate assessment of cartilaginous and bony structures, in addition to its inherent advantages such as absence of ionizing radiation exposure. One of the indications for US is to monitor the response to Ponseti method treatment. MRI enables visualization of bones, cartilage, and soft tissues and allows multiplanar evaluation of deformities, providing a comprehensive imaging analysis of CTEV. An integrated approach that combines clinical examination and imaging findings is essential for effective management of CTEV. The authors provide a comprehensive overview of CTEV with a review of imaging modalities to help evaluate CTEV, focusing on radiography, US, and MRI. Using this article as a guide, radiologists involved in the assessment and treatment of CTEV can contribute to the management of the condition. ©RSNA, 2024 Supplemental material is available for this article.
Assuntos
Pé Torto Equinovaro , Pé Torto Equinovaro/diagnóstico por imagem , Pé Torto Equinovaro/terapia , Humanos , Imageamento por Ressonância Magnética/métodos , Recém-Nascido , LactenteRESUMO
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.
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Pé Torto Equinovaro , Doenças Neuromusculares , Pé Torto , Gravidez , Feminino , Criança , Humanos , Pré-Escolar , Pé Torto Equinovaro/diagnóstico por imagem , Pé Torto Equinovaro/genética , Amniocentese , Estudos Retrospectivos , Variações do Número de Cópias de DNA , Diagnóstico Pré-Natal/métodos , Aberrações Cromossômicas , Líquido AmnióticoRESUMO
PURPOSE: Despite the existence of guidelines for screening for developmental dysplasia of the hip (DDH), there remains controversy regarding the need for routine ultrasound screening for DDH in patients with clubfoot due to an unclear correlation between the two conditions. The purpose of this study is to determine whether ultrasound screening for DDH in this population improved the diagnostic accuracy of DDH over standard assessment for patient risk factors and physical exam. METHODS: This is a retrospective cross-sectional review of infants diagnosed with idiopathic clubfoot who underwent hip ultrasounds to assess for DDH as identified by keyword search in an institutional radiological database at a tertiary care paediatric hospital. Patient demographics, risk factors for DDH, physical exam findings, and ultrasound results were recorded. RESULTS: Of the 120 patients who met the inclusion criteria between 2003 and 2018, 8 had hip dysplasia confirmed on ultrasound (6.7%). All these patients either had known risk factors for hip dysplasia or had an abnormal physical exam finding suggestive of hip instability or dislocation as performed by an orthopaedic surgeon on their initial consultation. CONCLUSION: A detailed history to determine risk factors and a thorough physical exam are adequate to determine the need for hip ultrasound in infants with idiopathic clubfoot. Routine ultrasound screening of all patients with clubfoot is likely unnecessary and may pose a significant burden on the health care system.
Assuntos
Pé Torto Equinovaro , Ultrassonografia , Humanos , Pé Torto Equinovaro/diagnóstico por imagem , Estudos Retrospectivos , Masculino , Feminino , Estudos Transversais , Ultrassonografia/métodos , Lactente , Fatores de Risco , Luxação Congênita de Quadril/diagnóstico por imagem , Luxação Congênita de Quadril/complicações , Luxação Congênita de Quadril/diagnóstico , Recém-Nascido , Exame Físico/métodos , Displasia do Desenvolvimento do Quadril/diagnóstico por imagem , Programas de Rastreamento/métodosRESUMO
In order to evaluate the early radiographic characteristics of the lateral talocalcaneal (L-TC) angle in patients with idiopathic clubfoot (ICF) and to investigate its prognostic significance for relapse after initial treatment with the Ponseti method. We retrospectively included 151 patients (96 males and 55 females; 227 feet) with ICF treated at our Institution between January 2005 and December 2014. The age at initial treatment was less than 6 months, and radiographs were obtained within 3 months of the Achilles tenotomy (mean age: 2.3 months; range: 0.77-6.8). All patients were followed up for at least 7 years (range, 7-18). The participants' feet were classified into 3 groups: relapsed (Group A), not relapsed (Group B), and normal foot groups which consisted of healthy feet in patients with unilateral ICF (Group C). All angle measurements were expressed in degrees. Forty-seven ICF feet in 33 patients relapsed, while 180 feet in 118 patients did not, and the age at relapse was 5.92 ± 1.91 years. Seventy-five normal feet were included in Group C. The average L-TC angle in Group A and B patients was 33.57° ± 12.05° and 39.37° ± 12.55°, respectively, while Group C was 49.61° ± 9.11°. A significant difference was found among the 3 groups of patients (F = 31.48, p < .001). The L-TC angle cut-off value below which a recurrence could be predicted was 36.1° (sensitivity, 74.47%). The L-TC angle of ICF patients treated using the Ponseti method were reduced compared to normal feet. An L-TC angle of <36.1° has relative value in predicting ICF relapse.
Assuntos
Pé Torto Equinovaro , Radiografia , Recidiva , Humanos , Pé Torto Equinovaro/diagnóstico por imagem , Pé Torto Equinovaro/terapia , Pé Torto Equinovaro/cirurgia , Masculino , Feminino , Estudos Retrospectivos , Lactente , Tendão do Calcâneo/diagnóstico por imagem , Tendão do Calcâneo/cirurgia , Tenotomia/métodos , Moldes Cirúrgicos , Calcâneo/diagnóstico por imagem , Pré-Escolar , Criança , Prognóstico , Valor Preditivo dos Testes , Seguimentos , Resultado do Tratamento , Tálus/diagnóstico por imagemRESUMO
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.
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Pé Torto Equinovaro , Ossos do Tarso , Lactente , Masculino , Criança , Feminino , Humanos , Pré-Escolar , Pé Torto Equinovaro/diagnóstico por imagem , Pé Torto Equinovaro/cirurgia , Estudos Retrospectivos , Resultado do Tratamento , Ultrassonografia , Moldes CirúrgicosRESUMO
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.
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Pé Torto Equinovaro , Tálus , Adulto , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Adulto Jovem , Pé Torto Equinovaro/diagnóstico por imagem , Pé Torto Equinovaro/cirurgia , Reprodutibilidade dos Testes , Estudos Retrospectivos , Rotação , Tálus/diagnóstico por imagem , Tomografia Computadorizada por Raios X , Suporte de CargaRESUMO
OBJECTIVE: This retrospective analysis aimed to assess the effectiveness of Split Tibialis Anterior Tendon Transfer (Split TATT) in treating residual idiopathic congenital talipes equinovarus (CTEV) deformities. METHODS: 15 patients (20 feet) with CTEV, with a mean age of 6.4 ± 3.2 years, initially treated with Ponseti casting, underwent Split TATT. Clinical and radiological evaluations, including Diméglio and Garceau scores, dorsiflexion, and X-ray measurements, were conducted preoperatively and post-operatively at a minimum 2-year follow-up. RESULTS: Significant improvements were observed in Diméglio and Garceau scores. Dorsiflexion increased by an average of 3°, and radiological analysis revealed nuanced changes. Despite a weak Kappa coefficient, positive trends in dorsiflexion and Garceau scores were noted. Preoperative Garceau scores did not reliably predict postoperative results. CONCLUSION: Split TATT demonstrates promising results in improving muscular balance and functional outcomes in CTEV. While radiological changes are subtle, positive trends in clinical scores indicate meaningful outcomes. LEVEL OF EVIDENCE: IV Retrospective study.
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Pé Torto Equinovaro , Radiografia , Transferência Tendinosa , Humanos , Transferência Tendinosa/métodos , Pé Torto Equinovaro/cirurgia , Pé Torto Equinovaro/diagnóstico por imagem , Estudos Retrospectivos , Feminino , Masculino , Criança , Pré-Escolar , Resultado do Tratamento , Amplitude de Movimento Articular , Moldes CirúrgicosRESUMO
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.
Assuntos
Fissura Palatina , Pé Torto Equinovaro , Feminino , Gravidez , Humanos , Pé Torto Equinovaro/diagnóstico por imagem , Pé Torto Equinovaro/genética , População do Leste Asiático , Feto , Aberrações Cromossômicas , Canais Iônicos/genéticaRESUMO
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.
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Pé Torto Equinovaro , Feminino , Humanos , Recém-Nascido , Gravidez , Pé Torto Equinovaro/diagnóstico por imagem , Fêmur/diagnóstico por imagem , Feto , Idade Gestacional , Estudos Prospectivos , Ultrassonografia Pré-NatalRESUMO
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.
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Pé Torto Equinovaro , Pé Chato , Deformidades Congênitas do Pé , Lactente , Humanos , Criança , Tornozelo/diagnóstico por imagem , Qualidade de Vida , Pé Torto Equinovaro/diagnóstico por imagem , Pé Torto Equinovaro/terapia , Articulação do Tornozelo , Deformidades Congênitas do Pé/diagnóstico por imagemRESUMO
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.
Assuntos
Tendão do Calcâneo , Pé Torto Equinovaro , Criança , Humanos , Lactente , Pé Torto Equinovaro/diagnóstico por imagem , Pé Torto Equinovaro/cirurgia , Seguimentos , Resultado do Tratamento , Moldes Cirúrgicos , Tenotomia , Tendão do Calcâneo/diagnóstico por imagem , Tendão do Calcâneo/cirurgia , RecidivaRESUMO
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.
Assuntos
Tendão do Calcâneo , Pé Torto Equinovaro , Criança , Humanos , Lactente , Pé Torto Equinovaro/diagnóstico por imagem , Pé Torto Equinovaro/cirurgia , Estudos Retrospectivos , Tenotomia/métodos , Moldes Cirúrgicos , Tendão do Calcâneo/diagnóstico por imagem , Tendão do Calcâneo/cirurgia , Fáscia , Resultado do TratamentoRESUMO
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.
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Pé Torto Equinovaro , Pé Equino , Humanos , Lactente , Pé Torto Equinovaro/diagnóstico por imagem , Pé Torto Equinovaro/cirurgia , Pé Equino/etiologia , Pé Equino/cirurgia , Estudos Retrospectivos , Pé , Resultado do Tratamento , Moldes CirúrgicosRESUMO
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.
Assuntos
Pé Torto Equinovaro , Gravidez , Feminino , Humanos , Sequenciamento do Exoma , Pé Torto Equinovaro/diagnóstico por imagem , Pé Torto Equinovaro/genética , Ultrassonografia Pré-Natal , Estudos Retrospectivos , Feto/diagnóstico por imagem , Diagnóstico Pré-Natal/métodos , Proteínas de Ligação a DNA , Proteínas Adaptadoras de Transdução de Sinal , Proteínas de Ligação a RNA , CinesinasRESUMO
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.
Assuntos
Pé Torto Equinovaro , Adulto , Masculino , Humanos , Pé Torto Equinovaro/diagnóstico por imagem , Pé Torto Equinovaro/cirurgia , Articulação do Tornozelo/diagnóstico por imagem , Articulação do Tornozelo/cirurgia , Tornozelo , Artrodese/métodos , Extremidade Inferior , Fenômenos BiomecânicosRESUMO
PURPOSE: To establish parameters and propose a radiographic classification for foot adduction/supination deformities to assist the indication of Garceau procedure. Secondly, to investigate whether the outcome of Garceau surgery depends on the initial treatment used, peritalar release, or the Ponseti method, and verify the maintenance of correction until skeletal maturity. METHODS: Prospective cohort study, with follow-up evaluations in 2009 and 2019. Fifty-three consecutive patients (71 feet) with idiopathic congenital clubfoot (ICCF) were divided into two groups according to the initial treatment used: peritalar release (group I) or Ponseti method (group II). All patients underwent Garceau procedure. The patients were evaluated clinically and radiographically using the American Orthopedic Foot Association (AOFAS) score for ankle and hindfoot. A radiographic classification is proposed based on the adduction by talo-first metatarsal angle on dorsoplantar view and supination by the elevation of the head of the first metatarsal on lateral view, both weight-bearing. RESULTS: In the first clinical evaluation, the mean score on the AOFAS was 87 points in group I and 86 points in group II. In the second evaluation, group I had mean AOFAS of 92 points and group II of 94 points. No statistical differences were found between the two groups, neither between the first and the second evaluation. In the radiographic evaluation, the adduction deformity obtained an average correction of 4° in group I and 3.6° in group II; in supination deformity, the average depression of the first metatarsal head in relation to the ground was 6.7 mm in group I and 7.5 mm in group II, with no statistical difference between the two evaluations, indicating the correction was maintained until skeletal maturity. CONCLUSION: Garceau transfer is capable of correcting residual deformities in adduction/supination of mild and moderate degrees, regardless of the initial treatment, and maintaining the correction until skeletal maturity. The proposed radiographic classification might help to objectively indicate the surgical procedure.
Assuntos
Pé Torto Equinovaro , Articulação do Tornozelo/cirurgia , Pé Torto Equinovaro/diagnóstico por imagem , Pé Torto Equinovaro/cirurgia , Humanos , Estudos Prospectivos , Transferência Tendinosa/métodos , Resultado do TratamentoRESUMO
Relapsed, resistant, and untreated congenital talipes equinovarus poses significant challenges in view of functional outcome following conventional serial casting and soft tissue release procedures. The Ilizarov ring fixator here offers significant possibilities as an extended conservative treatment modality. The aim of the present study was to critically evaluate effectiveness of the Ilizarov ring fixator with regard to radiological, clinical, and functional outcomes, in the difficult clubfeet. The study was carried out on patients presenting with relapsed, resistant, or untreated congenital talipes equinovarus deformity, who underwent deformity correction using the Ilizarov ring fixator application. All patients were reviewed at 6 monthly intervals for over 3 years following fixator removal with an objective clinical, radiological, and functional assessment. Twenty-three patients with 30 clubfeet were enrolled in our study. The mean age was 8.3 ± 3.6 (range 4-17) years. The postoperative clinical, radiological, and functional scores showed statistically significant improvement among all patients when compared with the preoperative data. All 30 feet developed varying complications during treatment with pin track infections being the most common. However, they were managed while continuing the distraction correction process. The Ilizarov ring fixator is an effective and reliable solution for difficult and challenging clubfeet. However, one must be aware of a strict adherence to a bracing protocol to avoid recurrence of deformities. A regular periodical functional and clinical follow up must be ensured among these children for a favorable outcome.
Assuntos
Pé Torto Equinovaro , Técnica de Ilizarov , Adolescente , Criança , Pré-Escolar , Pé Torto Equinovaro/diagnóstico por imagem , Pé Torto Equinovaro/cirurgia , Humanos , Radiografia , Recuperação de Função Fisiológica , Resultado do TratamentoRESUMO
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.
Assuntos
Tendão do Calcâneo , Pé Torto Equinovaro , Tendão do Calcâneo/diagnóstico por imagem , Tendão do Calcâneo/cirurgia , Moldes Cirúrgicos , Pé Torto Equinovaro/diagnóstico por imagem , Pé Torto Equinovaro/cirurgia , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Tenotomia/métodos , Resultado do TratamentoRESUMO
BACKGROUND: Major abnormalities of tarsal bone shape after surgical clubfoot treatment are well known from the literature. The Ponseti method has gained widespread acceptance in primary treatment of congenital clubfeet. Despite the longtime experience, data regarding the development of tarsal bones after this treatment are still rare. The aim of the study was therefore to evaluate radiographic parameters describing tarsal bone shape of clubfeet after Ponseti treatment and compare them to age-matched healthy feet. METHODS: Twenty two consecutive severe clubfeet in 14 patients were investigated by repeated diagnostic ultrasound during the corrective process. Extent and temporal course of correction were documented with standardized X-rays after a mean follow-up of 12 years (between the ages of 10-14 years) and compared to a group of age-matched normal feet. RESULTS: Reliability testing for all X-ray parameters showed good to excellent results. In comparison to the control group, all parameters except the radius of the trochlea (RT) were significantly altered in clubfeet with highest differences shown for the anterior talar motion segment (ATM), talonavicular coverage (TNC) and the talometatarsal index (TMT-Index). Differentiation between minor and major deformities showed significant differences only for the front tarsal index (FTI). CONCLUSIONS: Tarsal bone shape of clubfeet treated by the Ponseti method differs significantly from normal feet. One of the most pronounced and clinically relevant difference of the clubfoot talus compared to the normal talus is the markedly reduced anterior talar motion segment.
Assuntos
Pé Torto Equinovaro , Ossos do Tarso , Adolescente , Moldes Cirúrgicos , Criança , Pé Torto Equinovaro/diagnóstico por imagem , Pé Torto Equinovaro/terapia , Seguimentos , Humanos , Manipulação Ortopédica , Reprodutibilidade dos Testes , Resultado do TratamentoRESUMO
PURPOSE: Idiopathic congenital talipes equinovarus is the most commonly encountered congenital deformity of the foot. Ponseti technique of manipulation is the treatment of choice. The Pirani classification is a reliable scoring system for clinical evaluation of clubfeet. The role of radiographic parameters in the evaluation and treatment of clubfeet is still controversial. The aim of this study was to evaluate the correlation of radiological parameters with clinical correction in patients with idiopathic clubfeet undergoing correction using Ponseti method. METHODS: Between March 2018 and March 2019, 42 feet in 27 patients with idiopathic clubfeet were treated in our hospital. We used the Pirani scoring system for clinical evaluation. Anteroposterior and lateral views of the feet were taken before and after correction and at the last follow-up. The anteroposterior view was evaluated for the talocalcaneal angle and talo-first metatarsal angle, while the lateral view was only evaluated for the talocalcaneal angle. RESULTS: Twelve were boys (44.4%), and 15 were girls (55.6%). The deformity was bilateral in 15 patients (55.6%) and unilateral in 12 patients (44.4%). The average age was three months. According to the Pirani score, the mean Pirani Total score was 4.4 before correction and reduced to 0.4 after correction. The mean talocalcaneal angle in anteroposterior and lateral views was 15.1° and 7.8° before correction, increased to 32.7° and 31.8° after correction, respectively. The mean talocalcaneal index increased from 23.2 before correction to 64.5 after correction. The mean talo-first metatarsal angle in anteroposterior view improved from 25.7° before correction to - 1.6° after correction. The relation between the differences in Pirani scores before and after correction and the differences in measured radiographic parameters before and after correction revealed a statistically significant correlation. CONCLUSION: Radiographic parameters showed a statistically significant correlation with the clinical outcome. Thus, evaluation of clubfeet correction treated by Ponseti technique can rely mainly on clinical scores with limited utilization of radiological assessment.