Vertical Talus Research Articles

Expanding the Genetic and Phenotypic Spectrum of Mowat-Wilson Syndrome: A Study of 10 Turkish Patients With an Intrafamilial Recurrence Caused by First Intragenic Large Deletion.

Mowat-Wilson syndrome (MWS) is a complex disorder caused by heterozygous ZEB2 gene variations creating haploinsufficiency. The main clinical features are evolving facial dysmorphism, intellectual disability, eye and brain malformations, and various organ anomalies. Our study examines 10 Turkish patients, who had clinical diagnosis, underwent evaluation, clinical investigations, and genetic tests in multiple tertiary centers across Türkiye, and were molecularly diagnosed with MWS. Molecular analysis with sequencing techniques alongside array testing unveiled disease-causing variations in addition to novel variants, including two siblings with recurrent multiexon deletion. Clinical presentations varied, featuring neurodevelopmental delay and characteristic facial traits and organ malformations across all cases, alongside less frequently reported manifestations such as laryngomalacia or rocker bottom feet in addition to new features such as macroorchidism and osteoporosis. Our findings expand the genetic and phenotypical spectrum of MWS, and hint at potential implications of gonadal mosaicism. While establishing clear genotype-phenotype correlations poses challenges, comprehensive genetic testing remains pivotal for precise diagnosis and management. The study highlights the complexity of MWS genetics, with potential implications of gonadal mosaicism on recurrence. Further research is needed to elucidate mechanisms driving phenotypic variability, potential hotspots, and mechanisms for recurrent variations. We report on the largest cohort with MWS from Türkiye.

Atypical Variants of Spinal Dysraphism: A Case Series

Abstract The aim of this study is to present and discuss atypical instances of spina bifida (SB) within a Nigerian paediatric cohort, highlighting their distinctive clinicoradiological features. Additionally, a brief literature review is provided to contextualise these congenital anomalies. This series comprises eight rare cases of SB managed in a Nigerian neurosurgical facility. Additionally, a brief literature review is provided to contextualise these congenital anomalies. This case series comprises eight rare cases of SB managed in a Nigerian neurosurgical facility. Amongst these, four cases exhibited segmental spinal dysgenesis (SSD; one thoracolumbar, one lumbar, and two sacral). Each of these cases demonstrated diverse associated musculoskeletal, cutaneous, and perineal anomalies, accompanied by varying degrees of neurological dysfunction. Other cases included lipomyelomeningocele (LMMC), human tail (HT), membranous meningocele, and myeloschisis (MSS). Autonomic dysfunction was a common feature in all of the cases, whilst two of the patients presented with congenital kyphotic spinal deformity. Lower limb anomalies varied, including congenital talipes equinovarus deformity, pes planus, congenital calcaneovagus deformity, rocker bottom feet, clinodactyly, and tetrapolydactyly. Remarkably, none of the patients exhibited clinical features indicative of hydrocephalus. SSD, LMMC, HT, membranous meningocele, and MSS represent atypical forms of SB in the Nigerian paediatric population. Early neuroimaging of patients with suspected spinal dysraphism is crucial, as it may reveal a spectrum of diverse vertebral anomalies associated with this neurological condition within the African population.

Minimally Invasive Method for Treatment of Syndromic Congenital Vertical Talus Deformity in Children.

Congenital Vertical Talus (CVT) is a rare form of rigid flatfoot commonly seen in patients with underlying neurologic syndromes. This study aims to evaluate the long-term effectiveness of the minimally invasive method for correcting CVT deformity in a large cohort of syndromic patients. A single author recorded preoperative, 2-week postoperative, 1-year postoperative, and most recent radiographic measurements and complications for 25 patients treated with the minimally invasive method from 2006 to 2021. Patient-Reported Outcomes Measurement Information System (PROMIS) questionnaires were administered for 12 patients after January 1, 2015, when the institution began collecting PROMIS in all orthopaedic patients. Average follow-up was 55 months (13-111); 18 patients had minimum 24-month follow-up. Forty feet in 25 patients were analyzed. The average preoperative lateral talar axis-first metatarsal base angle (TAMBA) was 68.7 ± 21.3 vs 12.1 ± 8.9 after initial surgical intervention (P < .0001). There was a statistically significant increase in the lateral TAMBA between the initial postoperative and final follow-up visits (13.0 vs 21.6, P = .02). Radiographic recurrence of talonavicular deformity was noted in 12 feet (30.9%); 7 (15.55%) required corrective surgery. Larger preoperative lateral TAMBA was predictive of recurrence. Notably, patients with arthrogryposis experienced higher radiographic recurrence than other syndromic patients (45.0% vs 14.3%, P = .0384). PROMIS scores were within population norms. The study suggests that less than one-third of syndromic CVT patients experienced a radiographic recurrence of talonavicular deformity, with 15% requiring further surgical intervention at an average of 55 months following the initial procedure. A higher incidence of radiographic recurrence occurred in patients with distal arthrogryposis. These findings, along with the satisfactory patient-reported outcomes, suggest that the minimally invasive technique is an effective treatment method for syndromic CVT, underscoring the necessity for clinicians to provide detailed prognoses and consider more intensive follow-up for those at higher risk.

Rehabilitation for Marfan Syndrome

Abstract: Marfan syndrome is a spectrum of disorders caused by a heritable genetic defect of connective tissue that has an autosomal dominant mode of transmission. The defect itself has been isolated to the FBN1 gene on chromosome 15, which codes for the connective tissue protein fibrillin. Abnormalities in this protein cause a myriad of distinct clinical problems, of which the musculoskeletal, cardiac, and ocular system problems predominate. The skeleton of patients with Marfan syndrome typically displays multiple deformities. Mitral valve prolapses that requires valve replacement can occur as well. Given the variable expressivity of Marfan Syndrome, no single sign is pathognomonic; the diagnosis is made on clinical grounds on the basis of typical abnormalities. We reported a boy, 12 years old, referred from surgeon with diagnosis pectus carinatum pro brace. Chest protusion appeared since age 6, getting bigger without any complaint but cosmetic. Other complaints on feet which looked flat, sometimes ankle sore after long distance running or futsal. He was the first child and no family history had a condition like him. His hobby was playing futsal, and daily activities were independent without assistive devices. General appearance and vital signs were normal, cardiorespiratory assessment was normal, BMI on percentile 10-25, arm span to height ratio 1.09, lens subluxation of left eye, lens dislocation of right eye, poor standing balance, inadequate toe off, thoracic hyperkyphotic, positive wrist sign, true leg length discrepancy of 1 cm (left&gt;right), bilateral ankle ROM limitation, rigid flat feet suspected bilateral vertical talus, left hallux valgus, Marfan syndrome score 9, and normal echocardiography. In this patient, we gave semi rigid thoraco-lumbo-sacral orthosis (TLSO) with 3 points pressure system and rigid bar on protution area (custom molded). resistance exercise (F: 3x/week, I: moderate fatigue, Borg scale 13-15/20, T: 8-15 reps/ set, 2-3 set/ session, T: major muscle group upper and lower extremities aerobic exercise (F: 3x/week, I: moderate to vigorous, borg scale 13-15/20, T: ≥60 min/session, @5-10 min warming up and cooling down (stretching), T: sport (swimming, running, cycling). The patient was referred to a surgeon for a brace. In conclusion, this case report highlights the multidisciplinary management of patients with Marfan syndrome. Keywords: Marfan syndrome; typical abnormalities; multiple deformities

Defining and Differentiating Congenital Vertical Talus and Congenital Oblique Talus: It's Not Primarily About the Talus.

Congenital vertical talus (CVT) and congenital oblique talus (COT) are rocker-bottom foot deformities that have similar names and no objective definitions. This has led to confusion for practitioners, as well as scientific challenges for researchers. Our goal was to provide objective radiographic criteria to define and differentiate CVT and COT. We evaluated 62 pairs of maximum dorsiflexion and plantar flexion lateral radiographs of infant feet that had been clinically diagnosed with CVT. The dorsiflexion tibiotalar angle, the plantar flexion talus-first metatarsal angle, and the plantar flexion foot center of rotation of angulation (foot-CORA) were measured using transparent overlay tools. Freehand measurements were made on a subset of 10 pairs of radiographs to confirm clinical applicability. Nine contralateral pairs of radiographs of normal feet were measured for comparison. Specific values for the radiographic measurements were identified that, together, reliably differentiated the shapes of rocker-bottom feet with CVT, COT, and flexible flatfoot with a short tendo-Achilles (FFF-STA), as well as the shape of the normal foot. More severe and rigid rocker-bottom foot deformities were diagnosed with CVT. Less severe and more flexible deformities were diagnosed with COT. CVT, COT, FFF-STA, and normal feet can be reliably differentiated using 2 angular measurements and 1 bone position measurement on dorsiflexion and plantar flexion lateral radiographs. Our data indicated that the differentiation of CVT and COT is based primarily on the rigidity of the navicular dislocation rather than the verticality of the talus. The data further supported the proposition that COT is a foot deformity along a spectrum of valgus/eversion deformities of the hindfoot that requires early treatment. Application of these diagnostic criteria should lead to clinical studies that identify a specific treatment, treatment outcome, and prognosis for each deformity. Diagnostic Level II. See Instructions for Authors for a complete description of levels of evidence.

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

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

Response to Commentary on "Relapsed Congenital Vertical Talus Deformity: Outcomes of a Modified Minimally Invasive Method".

Response to Commentary on "Relapsed Congenital Vertical Talus Deformity: Outcomes of a Modified Minimally Invasive Method".

Reverse V-shaped osteotomy for ankylosing rocker-bottom foot deformity in patients with rheumatoid arthritis: A report of three cases.

This study evaluated a reverse V-shaped osteotomy for ankylosing rocker-bottom foot deformity in patients with rheumatoid arthritis. Three feet were presented in this study: rheumatoid rocker-bottom deformities with painful and/or infectious bony prominence towards the bottom of the foot, treated with a reverse V-shaped osteotomy in the mid-hindfoot. In all three cases, significant correction was achieved with restoration of the medial longitudinal arch, and improvement in clinical scores was confirmed. Reverse V-shaped osteotomy has the potential to be a useful and definitive procedure for ankylosing rocker-bottom deformity in patients with rheumatoid arthritis.

Genetic analysis of the false positive trisomy 7 and false negative trisomy 18 by NIPT-PLUS

To explore the cause of inconsistency between the results of trisomy 7 by expanded non-invasive prenatal testing (NIPT-PLUS) and trisomy 18 by prenatal diagnosis. A pregnant woman who received genetic counseling at Jiaozuo Maternal and Child Health Care Hospital on July 5, 2020 was selected as the study subject. NIPT-PLUS, systematic ultrasound and interventional prenatal testing were carried out. The middle segment and root of umbilical cord, center and edge of the maternal and fatal surface of the placenta were sampled for the validation by copy number variation sequencing (CNV-seq). The result of NIPT-PLUS indicated that the fetus has trisomy 7. Systematic ultrasound has shown multiple malformations including atrioventricular septal defect, horseshoe kidney, and rocker-bottom feet. However, QF-PCR, chromosomal karyotyping analysis, and CNV-seq of amniotic fluid samples all showed that the fetus was trisomy 18. Validation using multiple placental samples confirmed that the middle segment of the umbilical cord contains trisomy 18, the center of the placenta contained trisomy 7, and other placental sites were mosaicism for trisomy 7 and trisomy 18. Notably, the ratio of trisomy 18 became lower further away from the umbilical cord. The false positive results of trisomy 7 and false negative trisomy 18 by NIPT-PLUS was probably due to the existence of placental mosaicism. Strict prenatal diagnosis is required needed aneuploidy is detected by NIPT-PLUS to exclude the influence of placental mosaicisms.

Clarification on the distinction between congenital vertical talus and oblique talus diagnosis in the intrauterine period

Clarification on the distinction between congenital vertical talus and oblique talus diagnosis in the intrauterine period

Progressive collapsing foot deformity: clinical presentation, diagnosis, and management options

Progressive collapsing foot deformity (PCFD) is a prevalent musculoskeletal disease that can cause significant deformity and disability. This review article aimed to overview the clinical presentation, diagnosis, and management options for PCFD. Google Scholar and PubMed were searched specifically for publications published up until May 2023 through several keywords. Inclusion criteria were articles on PCFD and articles published in English. The exclusion criteria were related to flexible flatfoot, vertical talus condition, and non-English articles. PCFD can present with various symptoms and signs, including elongation of the tibialis posterior tendon, hindfoot valgus deformity, forefoot abduction, weakness on the single-heel-rise test, and too-many-toes signs. The footprint assessment can be used easily and effectively to detect PCFD. Diagnosis of PCFD must be according to a thorough history taking, physical check-up, and appropriate imaging studies. Treatment options for PCFD range from conservative measures such as orthotic devices and physical therapy to more aggressive measures such as tendon transfers, arthroereisis, and implant-based reconstructions. The therapeutic plan should be individualized to the patient&amp;apos;s requirements and comorbidities. Different surgical modalities are available to manage flat foot deformity, including arthroereisis, lateral column lengthening, medializing calcaneal osteotomy, dorsal opening wedge osteotomy, and cotton osteotomy. Each intervention has its benefits and disadvantages, and the most appropriate modality should be selected according to the kind and severity of the deformity, the patient&amp;apos;s features and risk factors, and the surgeon&amp;apos;s experience. Pre- and postoperative patient-reported outcomes measurement information system scores can help to evaluate treatment outcomes.

Congenital Vertical Talus

The talus is a very important bone in the foot skeleton. It represents the connection between the leg bones and the other bones of the foot. Its normal anatomy is correlated to its good function. The bone may be exposed to congenital anatomical variations and deformities, including congenital vertical talus (CVT), which affect the shape and movements of the foot. Although CVT is rare, it is important to keep in mind the possibility of CVT when examining a foot defect in newborns to avoid neglecting its treatment and subsequent complications and to avoid extensive surgical intervention.

КОМПЛЕКСНЫЙ РЕГИОНАРНЫЙ БОЛЕВОЙ СИНДРОМ У ДЕТЕЙ: ОБЗОР ЛИТЕРАТУРЫ И КЛИНИЧЕСКОЕ НАБЛЮДЕНИЕ ИЗ ПРАКТИКИ ВРАЧА-ТРАВМАТОЛОГА-ОРТОПЕДА

Complex regional pain syndrome (CRPS) in children has specific features that distinguish it from the adult form. In addition, there are no specific data on possible manifestations, diagnostic criteria and therapeutic aspects of this pathology. Depending on the severity of symptoms, CRPS leads to functional disorders of the body, a decrease in the quality of life. The research includes a case report of a patient with CRPS in the distal segment of the limb (foot); the diagnosis was made 4 months earlier and the patient responded well to the treatment. The Authors also speculate about CRPS determinants. In the reported case, the combination of following factors was revealed: a pathological relationship in the talonavicular and calcaneal junction (vertical talus) making the normal biomechanical movements in the foot impossible; trauma; hypersthenic physique of a child with pronounced subcutaneous fat in the foot as well. No genetic criteria or significant neurological abnormalities were identified in the patient. Undoubtedly, the causes and ways of CRPS occurrence in children should be carefully studied by pediatricians as well as experts in other fields.

Congenital Vertical Talus: An Updated Review.

Congenital vertical talus (CVT) is the presence of rigid flatfoot deformity characterized by hindfoot valgus and equinus. This foot deformity is associated with midfoot dorsiflexion and forefoot abduction due to a fixed dorsal dislocation of the navicular relative to the head of the talus. It is often underdiagnosed in children due to its similarity to other disorders of the foot. Misdiagnosis of CVT and subsequent failure to address it leads to significant disability and pain. While past surgical management consisted of soft tissue releases that produced varying efficacy, current management of CVT consists of serial casting and minimally invasive procedures that have yielded excellent long-term outcomes. This review provides insight into the diagnosis and treatment of CVT with the intention of highlighting the importance of promptness of intervention to prevent further disability.

Congenital Disorders and Polyhydramnios with Suspected Edwards Syndrome

The aim of this research is to identify and analyze congenital disorders and polyhydramnios with suspected Edwards syndrome. The method used in this study is a case report of a 43-year-old patient with a gravidity of G4P3A0H3 at 39-40 weeks of gestation. The results of this research indicate that congenital anomalies are inherent and defined as structural, functional, or metabolic abnormalities due to malformation of the contents. In 2010, congenital anomalies accounted for 10.5% of neonatal deaths. These anomalies are congenital in nature and are usually found independently, but multiple anomalies can be present together in a condition. Finding one anomaly can provide a favorable prognosis, but finding several anomalies can disrupt the baby's well-being. In the study, we report a neonate with congenital anomalies (anal atresia, micrognathia, bilateral cleft lip and palate, low-set ears, and rocker bottom foot). There is no history of illness, family and obstetric history, and no experiential disorders.

Relapsed Congenital Vertical Talus Deformity: Outcomes of a Modified Minimally Invasive Method.

Relapsed Congenital Vertical Talus Deformity: Outcomes of a Modified Minimally Invasive Method.

Author response to comment on Cummings JL et al.: 'Untreated congenital vertical talus deformity in walking age: minimally invasive method works'.

Author response to comment on Cummings JL et al.: 'Untreated congenital vertical talus deformity in walking age: minimally invasive method works'.

Comment on Cummings JL et al.: 'Untreated congenital vertical talus deformity in walking age: minimally invasive method works'.

Comment on Cummings JL et al.: 'Untreated congenital vertical talus deformity in walking age: minimally invasive method works'.

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.

Results of treatment of congenital vertical talus by the Dobbs method

Congenital vertical talus is a rare foot deformity. The hindfoot is valgus and equinus, the midfoot is dorsiflexed and forefoot is abducted due to a fixed dorsal dislocation of the navicular on the head of the talus and the cuboid on the anterior part of the calcaneus. The epidemiology and etiology of vertical talus is unknown. Dobbs et al. (J Bone Joint Surg Am 88(6):1192–200, 2006) described a minimally invasive alternative which allowed to avoid the need for extensive soft tissue release procedures in treatment of congenital vertical talus. Eleven congenital vertical talus feet (group 5 according to Hamanishi) in eight children (four boys and four girls) constituted the study material. Upon the diagnosis, the patients’ age ranged from 5 to 26 months old (the mean – 14.6). The treatment involved serial manipulation and casting according to the reverse Ponseti method (from 4 to 7 casts) followed by a minimally invasive approach consisting in temporary stabilization of the talonavicular joint with the use of K-wire and Achilles tenotomy according to the Dobbs technique. Then patients continued the shoe and bar program for 2 years. The X-ray measurements on lateral radiographic included the talocalcaneal angle, tibiotalar angle and talar axis—first metatarsal base angle whereas AP radiographic images—the talocalcaneal angle and talar axis—first metatarsal angle. The Wilcoxon test was used to compare dependent variables. The final clinical assessment made during the last follow-up (the mean: 35.8 months, the range: 25–52) revealed that neutral position of the foot and normal range of motion were observed in ten cases and recurrence of foot deformity in one case. The last X-ray examination showed normalization all of radiological parameters, except for one case, and examined parameters were statistically significant. The minimally invasive technique described by Dobbs should be the first option in treatment of congenital vertical talus. It allows to reduce the talonavicular joint, brings good results and preserves foot mobility. The attention should be put on early diagnosis.