Congenital Vertical Talus Research Articles

Untreated congenital vertical talus deformity in walking age: minimally invasive method works.

There is sparse literature evaluating the outcomes in toddlers with congenital vertical talus (CVT) deformity who undergo treatment with the recently introduced minimally invasive Dobbs Method. We present the first study of this patient cohort to determine the efficacy of this method in patients 18 months of age and older. A list of all patients over 18 months of age who underwent CVT correction at our institution was created. Retrospective chart review was performed, and all follow-up notes were reviewed for clinical outcomes and complications. Eligible patients completed Patient-Reported Outcome Measurement Information System (PROMIS) questionnaires. Statistical analysis was performed using an alpha of 0.05. Sixteen children (24 feet) met all inclusion criteria and were included in the final analysis. Initial radiographic correction of all measured angles was seen, but by the latest follow-up, the average lateral TAMBA had increased from 12.04 degrees immediately postoperatively to 28.8 degrees at the latest follow-up ( P = 0.0012). Radiographic recurrence of deformity was seen in 9 (37.5%) feet and additional unplanned surgery was required in 3 (12.5%) feet. Residual radiographic pes planus was seen in 5 (20.8%) feet. PROMIS pain interference and peer relationship scores were near the population mean. Although the recurrence rate in this patient population seems to be higher than that of younger patients, the majority of toddlers who undergo treatment with this method do experience successful outcomes. We recommend attempting this treatment method in toddlers before performing extensive soft tissue releases or salvage procedures.

Patient-Reported Pain and Function Outcomes in Children With Congenital Vertical Talus Treated With the Minimally Invasive Method.

In 2006, a new minimally invasive method was introduced for the definitive correction of congenital vertical talus (CVT) deformity. There are no studies to date that have utilized the Patient-Reported Outcome Measurement Information System (PROMIS) to evaluate long-term quality of life outcomes in these patients. We identified all children with CVT who underwent treatment with the minimally invasive method and were seen at our institution after 2015. A retrospective chart review was then performed on these patients, and PROMIS scores were recorded for the following domains: Pain Interference, Mobility, and Peer Relations. Subgroup analysis was performed on patients who experienced recurrence and those who required a second corrective surgery. An alpha level of 0.05 was used for all analyses. There were 24 children who were treated for CVT at our institution after 2015 and had completed PROMIS surveys. Seven (29.2%) of these patients developed recurrence during the follow-up period. Among the entire cohort, the mean PROMIS pain interference score was 48±9, the mean PROMIS mobility score was 42±13, and the mean PROMIS peer relations score was 54±9. There were no statistically significant differences in the PROMIS scores between the entire cohort and those who experienced radiographic recurrence in any of the 3 domains ( P >0.05). Children who initiated treatment after the age of 12 months had lower PROMIS mobility scores than those who initiated treatment before 12 months of age (32.48 vs. 47.31, P =0.02). On average, children who undergo treatment with this technique end up within 1 SD of the reference population in all 3 domains that were measured (pain interference, mobility, and peer relations) regardless of sex, age, and status of recurrence. However, there was a trend towards lower mobility scores in this population compared with the reference population (42±13 vs. 50±10). Treatment should be initiated at less than 12 months of age whenever possible to maximize patient-reported outcomes. Level III.

Minimally Invasive Method in Treatment of Idiopathic Congenital Vertical Talus: Recurrence is Uncommon.

Historically, treatment for congenital vertical talus (CVT) has included open reduction of the talonavicular joint and extensive soft tissue release. In 2006, a new minimally invasive method consisting of serial manipulation and casting followed by percutaneous fixation of the talonavicular joint and percutaneous Achilles tenotomy was introduced. Although the early results of this new technique are promising, more research is needed to verify that the talonavicular correction is maintained with time. We conducted a retrospective chart review of all patients with idiopathic CVT who underwent minimally invasive correction by a single surgeon at a tertiary care institution. Radiographic evaluation of the preoperative, immediate postoperative, 1 year postoperative and latest follow-up appointments were performed. Complications and clinical outcomes were recorded. Radiographic recurrence of the deformity was defined as lateral talar axis-first metatarsal base angle >30 degrees. Statistical analysis was performed on the maintenance of radiographic correction and factors associated with recurrence. Forty seven feet in 35 patients were included in the study with average follow-up of 45 months. The average preoperative lateral talar axis-first metatarsal base angle was 74±18 compared with 12±8 after initial surgical intervention. In addition, radiographic correction of all other measured angles was achieved in every child following the initial surgery. Radiographic recurrence of talonavicular deformity was seen in 4 feet (9%). No cases of recurrence required a second corrective surgery during the follow-up period. There was a significant association between patient age at the time of treatment and recurrence of talonavicular deformity with patients older than 12 months being more likely to experience recurrence ( P =0.041). In this large series, we found that correction of talonavicular deformity can be achieved and maintained in a large majority of children with idiopathic CVT who undergo treatment with this minimally invasive technique and recurrences are uncommon. Treatment with this technique should be initiated as soon as a diagnosis of CVT is confirmed and the patient is medically stable to decrease the likelihood of experiencing recurrence of talonavicular deformity. Level III.

Diagnostic yield of exome sequencing in congenital vertical talus

BackgroundCongenital vertical talus (CVT), also known as “rocker-bottom foot”, is a rare foot deformity associated with a dislocation of the talonavicular joint. Although genetic causes of CVT have been described in single isolated and syndromic families, whole-exome sequencing (WES) of large cohorts have not yet been reported. MethodsIn this study, 62 probands with CVT were evaluated for likely causative single nucleotide variants (SNVs) and copy number variants (CNVs) using WES. Segregation of variants within families was determined by Sanger sequencing. ResultsIn this cohort, CVT occurred as an isolated anomaly in 75.8% (47/62) and was familial in 19.3% (12/62) of cases. Analysis of WES data led to the identification of likely causative variants in known disease genes in 30.6% (19/62) of all CVT probands. More than one proband had likely causative SNVs in TSHZ1, GDF5, and LMX1B. Only two probands had likely causative CNVs: a chromosome 12q13.13 deletion of the 5’ HOXC gene cluster, and a chromosome 18q22.3q23 deletion involving TSHZ1. Familial CVT was strongly predictive of identifying a molecular diagnosis [75% (9/12) of familial cases compared to 20% (10/50) of non-familial cases (Chi-square test, P-value = 0.0002)]. There was no difference in the solved rate based on isolated or syndromic presentation, unilateral or bilateral affectation, or sex. ConclusionsCVT is genetically heterogeneous and more often caused by SNVs than CNVs. There is a high yield of WES in familial CVT cases (∼75%). Additional research is needed to identify the causes of sporadic CVT, which had much lower solved rates.

What is New in Pediatric Orthopaedic Foot and Ankle.

This paper aims to report on the last 5 years of relevant research on pediatric foot and ankle pathology with specific focus on clubfoot, congenital vertical talus, toe walking, tarsal coalitions, pes planovalgus with or without accessory navicular, foot and ankle trauma, and talar dome osteochondritis dessicans. The Browzine platform was used to review the table of contents for all papers published in the following target journals related to the treatment of pediatric foot and ankle conditions. Search results were further refined to include clinical trials and randomized controlled trials published from March 1, 2015 to November 15, 2021. A total of 73 papers were selected for review based on new findings and significant contributions in treatment of clubfoot, congenital vertical talus, toe walking, tarsal coalitions, pes planovalgus with or without accessory navicular, foot and ankle trauma, and talar dome osteochondritis dessicans. Also included were several papers that did not fit into any of these categories but provided new insight into specific foot and ankle pathologies. Treatment strategies for children with foot and ankle pathology are continually evolving. We review many of the most recent publications with the goal of improving understanding of these pathologies and highlighting current best practices. Level III.

EP262: De novo heterozygous variant in the RAB11B gene presenting with combined cardiac defect and neurodevelopmental disorder: A case report

The RAB11B gene (OMIM: 604198) encodes for a GTP-binding protein within the Rab11 GTPase subfamily which is associated with the regulation of exocytic and endocytic pathways. It also plays an essential role in ciliogenesis and vesicular trafficking. Pathogenic variants in RAB11B were first described in five patients in 2017. Subsequently, an additional patient was diagnosed through the Korean Undiagnosed Diseases Program (KUDP) in 2019. Clinical features shared by these patients were predominantly a neurological phenotype, including global developmental delay, epilepsy, hypotonia and gait disturbances. Ophthalmological, musculoskeletal, dermatological, and urological findings were also reported in some patients. MRI brain abnormalities were present in many of these patients and include decrease in white matter volume, patchy white matter signals, cerebellar hypoplasia, ventriculomegaly, thin corpus callosum and atypical partial rhombencephalosynapsis. Here we describe a 6-year-old male with previously unreported clinical findings of congenital heart defect in this disorder. A 5-year-old term male presented with prenatal complications of fetal congenital heart disease, maternal hypertension and maternal gestational diabetes. Fetal echocardiogram identified a tetralogy of Fallot (TOF) and post-natal echocardiogram confirmed the TOF with pulmonary valve atresia and 2 aorto-pulmonary collateral vessels from the descending aorta. Clinical examination at birth revealed bilateral congenital vertical talus but no other dysmorphic features. Fluorescent in-situ hybridization test for 22q11.2 deletion was negative. Chromosomal microarray analysis revealed a 133kb deletion of uncertain significance on chromosome 5q14.3. A head and renal ultrasound was normal at birth. He was diagnosed with congenital nystagmus and microcoria at 6 months of age with low amplitude on visual evoked potential testing. MRI brain revealed an extremely hypoplastic corpus callosum and brainstem, bilateral optic nerve hypoplasia, marked depletion of white matter and delayed myelination. He requires a G-tube for feeding. He has significant global developmental delays and is non-verbal. A clinical trio exome sequencing revealed a de novo, heterozygous, missense variant of unknown significance in the RAB11B gene (c.64 G>A; p.al22Met). This variant has since been re-classified as a pathogenic variant based on the published case series of 6 other individuals with similar phenotype. Given the fact that RAB11B is highly expressed in brain, cardiac and testicular tissue with various roles in ciliogenesis and vesicular trafficking, this patient’s cardiac defect is likely secondary to the pathogenic variant the RAB11B gene. We present this case of a de novo, heterozygous RAB11B variant presenting with a congenital heart defect in addition to a neurodevelopmental phenotype, thus expanding the phenotypic spectrum of this rare disorder.

Naviculectomy With Limited Soft-Tissue Releases as a Third Way Beyond Manipulative Treatment and Extensive Soft-Tissue Releases for Ambulatory Children With Complex Congenital Vertical Talus: A Technical Note.

Level IV case series.

Mid-trimester isolated bilateral rocker bottom feet leading to prenatal diagnosis of 7q11.23 microdeletion: Williams syndrome.

Prenatal sonographic depiction of congenital vertical talus (rocker bottom feet), describing a prominent calcaneus and rounded convex appearance of the ventral aspect of the foot, has been reported with fetal Trisomies 18, 13, 9 HOXD10 mutations and recently 2q13 microdeletion. We present a 24year old in whom mid-trimester sonographic finding of isolated bilateral rocker bottom feet led to diagnosis of 7q11.23 microdeletion-Williams syndrome. This association has not been reported previously. This case emphasizes the critical assessment of detail microarray upon prenatal sonographic notation of abnormal structural fetal features.

Diagnosis and treatment of congenital vertical talus in children under 3 years old (review)

Congenital vertical ram is a rare pathology, the incidence of it is 1 case per 10 thousand newborns. This anomaly is usually manifested by a severe planovalgus deformity of the foot. Moreover, it is often (in 50% of cases) associated with chromosomal syndromes (arthrogryposis, neurofibromatosis, myelodysplasia, etc.), with spinal, neuromuscular anomalies of development. As a result, it is necessary to focus the attention of pediatric orthopedists and radiologists on the parameters of the diagnosis in order to reduce false diagnoses and unreasonable surgical interventions in children, show options for surgical techniques for the treatment of feet with an inborn vertical position of the talus in children under 3 years. The presented review of domestic and foreign literature demonstrates the main advantages and disadvantages of existing approaches in the treatment of children under 3 years of age with congenital vertical ram. Demonstrate the main advantages and disadvantages of existing approaches in the treatment of this pathology. Analysis of the literature showed that the causes of the formation of the congenital vertical talus are not fully explored. In Russia, up to the present moment, its diagnosis is still difficult. Congenital vertical talus is one of the rare problems in world orthopedic practice in comparison with congenital clubfoot, but doctors who are constantly treating children with deformities of the feet have such patients regularly.

Outcomes of Naviculectomy for Severe Recurrent Clubfoot Deformity.

Background:Naviculectomy was originally described for resistant congenital vertical talus deformity but was later expanded to use in rigid cavus deformity. This study reviews the operative outcomes of complete excision of the navicular for recurrent deformity in the talipes equinovarus (TEV) population.Methods:After institutional review board approval, all patients undergoing naviculectomy at a single institution were identified. Clinical, radiographic, and pedobarographic data (minimum 2 years’ follow-up) were reviewed.Results:Twelve patients (14 feet) with TEV from 1984 to 2019 were included. All feet had minimum 1 prior operative intervention on the affected foot (mean age = 4.0 years, range 0.2-14.5), with 8/14 having at least 3 prior operative procedures. Complete navicular excision with concomitant procedures was performed in all patients (mean age = 11.7 years, range 5.5-16.1). Mean clinical follow-up from naviculectomy was 5.1 years (range, 2.2-11.2). During follow-up, 6 patients required subsequent surgery, most often secondary to pain and progressive deformity. One patient underwent elective below-knee amputation of the affected extremity. Of the remaining 11 patients, 7 of 11 reported continued pain and 8 of 11 maintained adequate range of motion at the ankle at the most recent follow-up.Conclusion:Clinical follow-up demonstrated deteriorating results in a large percentage of patients. The high rate of additional procedures and continued pain in the current series suggests that even as a salvage procedure, naviculectomy may not provide adequate results for patients.Level of Evidence:Level IV, case series.

Comparison of outcome between idiopathic and non-idiopathic congenital vertical talus treated with soft tissue release.

The aim of the study was to compare the clinical, radiological and functional outcomes between idiopathic and non-idiopathic congenital vertical talus (CVT) treated with soft tissue release. All the consecutive cases with CVT treated with soft tissue release were prospectively followed up. Indication for soft tissue release was either late presented or failed serial manipulation and cast application. Nineteen children (33 feet) with a minimum follow-up of 2 years following the soft tissue release (the mean 5.5 years follow-up) were included. The children without any other joint involvement with the normal spine without syndromic association were categorized as idiopathic (15 feet) and the rest were categorized as non-idiopathic (18 feet). Clinical and radiological scoring was done using Adelaar and Kodros scores. The morphological, functional and radiological outcomes were assessed using the International Clubfoot Study Group evaluation scale. The clinical, radiological and functional outcomes of the idiopathic and non-idiopathic groups were compared. The range of motion was significantly higher in the idiopathic group. The functional outcome was satisfactory in both groups. All the radiological parameters improved significantly in both groups. The functional outcome was considerably better in the idiopathic group. There was no significant difference in clinical and radiological outcomes among the two groups. Soft tissue release is an effective surgery for deformity correction in children with CVT. A good clinical outcome is observed in both groups. The range of motion was significantly higher in the idiopathic group. The overall outcome was similar in both groups.

Foot disorders in children

Abstract There is a wide range of foot disorders and deformities in children. While most of them are benign, some of the foot deformities may require operative intervention and/or a prolonged period of treatment. We will discuss the most common of these disorders: clubfoot, congenital vertical talus, calcaneovalgus deformity, metatarsus adductus, flexible flatfoot, tarsal coalitions and cavus foot.

Isolated congenital vertical talus: Genetics and genomics

Congenital vertical talus (CVT) is a distinct orthopedic condition where the bone structure and number are normal in the affected foot, but the orientation of the bones is not correct. The abnormal orientation of the bones in the affected foot is believed to be due to muscle imbalance. There are a shortening and dorsal displacement of the peroneal tendons and tibialis posterior tendon, resulting in the clinical appearance of a severe rigid flatfoot. The underlying etiology of the CVT is unknown, and limited studies have been performed to decipher the genetics of CVT. The purpose of this review is to highlight the key research articles within the CVT genetics and genomics fields that were published previously. Herein, we reviewed the current literature and discussed the genetic studies carried out in families and patients with an isolated form of CVT. It is believed that CVT segregates in an autosomal dominant fashion. Most of the studies used a candidate gene approach to identify CVT causative variants. Variants in growth differentiation factor 5, HOXD10, teashirt zinc finger homeobox 1, and skeletal muscle contractile genes have been associated with CVT. An unbiased and hypothesis-free approach of whole-exome sequencing is much needed to unwire the genetic network underlying distal hind limb development and to improve our understanding of the gene regulatory mechanism in this musculoskeletal disorder. Moreover, this review focuses on highlighting the importance of the identification of the genetics of CVT and its implications in early clinical diagnosis and management of patients.

Etiology and Treatment of Congenital Vertical Talus: A Clinical Review

ABSTRACTCongenital vertical talus is a rare rigid flat foot deformity. Although the cause of the congenital vertical talus is heterogeneous, recent researches strongly support a genetic cause linking the genes expressed during early limb development. If remain untreated, it causes a lot of disability like pain and functional limitations. Traditional treatment for vertical talus involves extensive surgeries, which are associated with short and long complications. A minimally invasive approach involving serial manipulation and casting will produce excellent short-term results with regard to clinical and radiographic correction. To achieve correction without extensive surgery leading to more flexible and functional foot, a long-term research study is required.How to cite this article:Sehmi S. Etiology and Treatment of Congenital Vertical Talus: A Clinical Review. AMEI's Curr Trends Diagn Treat 2020;4(2):91–94.

One-stage release by double surgical approach for neglected congenital vertical talus: results in a series of walking children in Tanzania.

Congenital vertical talus is an uncommon rigid flatfoot deformity present at birth, producing pain and disability if untreated. This study reports results and complications in a series of walking children affected by neglected congenital vertical talus treated by one-stage release through a double surgical approach in a hospital sited in the Tanzanian rural outback. Between 2009 and 2014, nine consecutive congenital vertical talus were observed in five patients (three males and two females) aged between 2 and 4 years. In two children, the deformity was idiopathic, in two it was associated to distal arthrogryposis and in one to Larsen syndrome. The surgical procedure was performed through a posteromedial and a lateral incision and included extensive soft tissue release and reduction of talo-navicular and subtalar joint, pinned with percutaneous Kirschner wires. The talar axis-first metatarsal base angle (TAMBA) was measured preoperatively and at follow-up. Results were summarized using the Adelaar score and the PODCI (Pediatric Outcomes Data Collection Instrument) questionnaire. The mean follow-up was 2.6 years (2-4). No major intraoperative complications were observed. The TAMBA passed from 74.4° (range 68-82°) to 20.2° (range 18-24°). No talar osteonecrosis was observed. The results were excellent in three cases, good in five cases and fair in one (Adelaar score). The mean postoperative PODCI score was 48 (range 38-60). None of the patients underwent further surgery. In case of neglected congenital vertical talus and limited health resources, this surgical technique has proved to be a viable option, providing satisfactory results, with low rate of surgical and postsurgical complications.

Management of pediatric foot deformities: an imaging review.

Abnormalities of foot alignment can be a cause of significant morbidity in children, and some require complex surgical intervention to improve functionality and decrease pain. Imaging plays a key role in management decisions. We address some of the most common surgical strategies for selected diagnoses including pes planus, congenital vertical talus, pes cavus, and clubfoot, with a focus on imaging findings.

1674. Orthopedic Complications of Congenital Zika Syndrome in Brazil

BackgroundCongenital Zika Syndrome (CZS) has a broad spectrum of clinical presentations that are still being described. This cohort study aimed to describe the orthopedic complications in children with microcephaly (MCP) related to Zika virus (ZIKV).MethodsWe evaluated 36 children with CZS up to 17 months of age followed at a pediatric rehabilitation center in the northeast of Brazil. Cohort enrollment occurred with children born between January 2015 and May 2016. We assessed their social profiles and orthopedic findings.ResultsOf the 36 cases, 25 were male. All of them lived in rural area. 25 had at least one congenital orthopedic alteration. Hip subluxation was the most common problem detected (n = 15); other lower limb abnormalities included knee subluxation (n = 7), clubfoot (n = 7); congenital vertical talus (n = 4); plano-valgus foot (n = 5). In relation to the upper limbs, 11 children presented with some shoulder and/or elbow abnormality and 16 had some alteration in the hand and/or on the wrist.ConclusionOrthopedic problems appear to be common in children with CZS and should be a focus of larger clinical studies. An initial orthopedic assessment may provide a better quality of life by helping children avoid further complications/deformities. Our results emphasize the orthopedic problems associated with CZS and the need to better describe many complications in the natural history of this infection.Disclosures All authors: No reported disclosures.

Отдаленные результаты лечения детей с врожденной вертикальной таранной костью

Objective To review long-term results of congenital vertical talus treated with classical techniques and a minimally invasive treatment approach offered by M. Dobbs. Material and methods Review of 30 pediatric cases (54 feet) with severe congenital convex pes valgus was performed over the period of 11 years. Patient ages ranged from 1 month to 13 years at the start of treatment. The 54 primary operations performed included triple arthrodesis (n = 2), open talus reduction according to S.J. Kumar, K.R. Cowell, D.L. Ramsey (n = 5), Coleman open reduction of the talus and screw fixation (n = 6), serial casting and percutaneous fixation of the talonavicular joint with a Kirschner wire and a percutaneous Achilles tendon tenotomy (n = 41). Reduction of the talus was produced under vision and followed by capsuloplasty of 23 feet. C-arm was used for closed correction in the rest of the cases. Results A minimally invasive Dobbs approach that consisted in serial casting, minimal surgery followed by bracing was shown to provide favorable outcomes in 21 patients (41 feet) treated at early childhood. Recurrent deformity with the oblique talus developed in 3 cases (4 feet) during growth of an average 6.1 years despite satisfactory primary correction and required further interventions. However, open reduction has become a rare procedure in the patient cohort with introduction of Dobbs practice at our hospital. There are more reports of successful primary treatment with Dobbs method in the national literature with no long-term follow-ups available in our country. Conclusions Kumar and Coleman operative interventions are reserved for unrecognized or recurrent cases following Dobbs manipulations. Triple arthrodesis as a definitive procedure can be used in a late detection of the condition or poor outcomes.

Treatment of congenital vertical talus by reverse Ponseti technique

Background Congenital vertical talus (CVT), also known as congenital convex pes valgus, is a rigid flatfoot deformity characterized by fixed hindfoot equinus and an irreducible talonavicular dislocation. This deformity can either be idiopathic and isolated or can occur with other conditions such as neural tube defects (myelomeningocele and spina bifida occulta), neuromuscular disorders like cerebral palsy and anterior horn cell disease, and in chromosomal aberrations like Down’s syndrome. The use of serial manipulation and plaster cast treatment followed by minimal surgical interventions has provided good early results in the treatment of idiopathic CVT. The method of cast correction of a vertical talus is based on a specific way of manipulating the foot so as to gradually reduce the talonavicular joint. The principles are similar to those used in the Ponseti method of clubfoot correction. Aim of the study To evaluate the management and the outcome of patients with CVT managed with reverse Ponseti technique, and minimal surgical intervention. Patients and methods This prospective study included 25 feet in 17 patients with CVT, comprising eight patients with bilateral and nine with unilateral involvement. The study was done at the new Children Hospital Cairo University between January 2013 and December 2015. The follow-up period ranged from 10 to 14 months, with an average period of 11.6 months. Inclusion criteria were patients diagnosed to have idiopathic CVT and no age limit, and exclusion criteria were previous operative release and cases associated with neuromuscular disorders or syndromes. Results Three (12%) cases were classified as excellent, 12 (48%) cases were classified as good, eight (32%) cases were classified as fair, and two (8%) cases were classified as poor. Conclusion Favorable results were obtained using the reverse Ponseti method of closed manipulation and then limited open reduction and fixation with a pin in the talonavicular joint and percutaneous Achilles tenotomy. There were also fewer complications compared with extensive operative treatments, by avoiding more extensive surgery.

Common Anomalies Associated To Congenital Vertical Talus: A Single Center Experience

Common Anomalies Associated To Congenital Vertical Talus: A Single Center Experience