Review of Current Concepts in Metatarsus Adductus.

Metatarsus adductus (MA), the most common congenital foot deformity, involves adduction of the forefoot at the tarsometatarsal joint, with normal hindfoot alignment. Early diagnosis is important because treatment is more successful if initiated before age 9 months. Treatment of MA depends on deformity severity, in which mild to moderate deformity can be treated conservatively. Current standard of care for severe or rigid deformity involves referral by primary care physicians to specialists for management by casting and splinting. Recently, several orthoses have demonstrated equal effectiveness to casting and may allow for primary care physicians to treat MA without the need for referral. In this review article, we provide an overview of MA and discuss diagnosis and treatment. We also discuss novel devices and suggest how they may affect the future management of severe and rigid MA. [Pediatr Ann. 2024;53(4):e152-e156.].

Split-hand/foot malformation 3 resulting from microduplications in 10q24 region in five patients from India.

Split-hand/foot malformation (SHFM) is a genetically heterogeneous congenital limb reduction defect characterized by the deficiencies of central rays of the autopod. Tandem duplications at 10q24 locus account for approximately 20% of all SHFM cases. Here, we report five affected individuals from four unrelated Indian families with SHFM3 caused by microduplication of 10q24 locus showing varied clinical presentations. This report substantiates and extends the current understanding of this rare, multifaceted, and complex condition.

Neonatal Assessment: Put Your Best Foot Forward.

BACKGROUND: Assessment of the foot is an essential part of the newborn examination. Foot abnormalities range from an isolated deformity due to intrauterine positioning to a functional impairment due to a structural malformation. The purpose of this article is to review assessment, abnormal findings, and current treatment options of common foot deformities. EVIDENCE ACQUISITION: A review of literature was conducted using keywords in PubMed, Google Scholar, and CINAHL databases from 2018 to 2023. RESULTS: Although assessment techniques for the neonatal foot remain the same, recent nonsurgical treatment options are available for a variety of neonatal foot deformities. Early recognition allows for proper evaluation of foot deformities and corrective measures. IMPLICATIONS FOR PRACTICE AND RESEARCH: Neonatal providers equipped with knowledge of common foot problems can provide support and anticipatory guidance to families.

Genomic sequencing in a cohort of individuals with fibular aplasia, tibial campomelia, and oligosyndactyly (FATCO) syndrome.

Fibular aplasia, tibial campomelia, and oligosyndactyly (FATCO) syndrome (MIM 246570) is a rare disorder characterized by specific skeletal findings (fibular aplasia, shortened or bowed tibia, and oligosyndactyly of the foot and/or hand). Typically, no other anomalies, craniofacial dysmorphism, or developmental delays are associated. Here we report three unrelated individuals with limb anomalies consistent with FATCO syndrome who have been followed clinically for 5 years. Genetic testing of previously reported individuals with FATCO syndrome has not revealed a genetic diagnosis. However, no broader sequencing approaches have been reported. We describe the results of the three individuals with FATCO syndrome from exome and genome sequencing, all of which was nondiagnostic. Our study suggests that FATCO syndrome is not the result of a simple monogenic etiology.

Congenital metatarsus varus: early diagnosis and conservative treatment in 112 patients.

PURPOSE: To describe a conservative treatment algorithm to manage Congenital Metatarsus Varus. BACKGROUNDS: Congenital Metatarsus Varus is a congenital disorder with an estimated incidence of 1/1000 newborns. Despite the deformity being mostly an aesthetic problem, residual and incorrect forms may be responsible for abnormal in-toe gait and shoe-wearing issues. No consensus has still been gathered regarding its correct treatment algorithm. METHODS: Between May 2019 and September 2020, 2156 newborn patients underwent an orthopedic examination at birth. Patients affected by Congenital Metatarsus Varus were classified according to Bleck's classification as flexible, semi-flexible or non-flexible deformity. A conservative treatment algorithm was followed, based on the application of manipulations, Bebax-type braces or plaster cast. All patient were followed until the clinical resolution of the deformity. Complications were also recorded. RESULTS: One-hundred twenty-four patients were diagnosed Congenital Metatarsus Varus, with an overall prevalence of 5/1000. One-hundred twenty-two patients presented with a flexible or semi-flexible foot deformity and were firstly treated with manipulations: 52 patients reported good results, while 70 required additional treatment with Bebax-type braces for achieving correction. Two patients presented a non-flexible deformity at birth: one required plaster cast due to a non-flexible deformity, and one patient was firstly managed with Bebax-type braces due to a severe semi-flexible deformity. Only two patients presented superficial skin ulcerations, healed within a week. Two patients were lost during the follow-up. CONCLUSION: An early diagnosis allowed by an orthopedic examination in all newborns may be a valid instrument to avoid Congenital Metatarsus Varus misdiagnosis. Early treatment with manipulation and orthosis resulted in good clinical outcome, with only few complications.

"Laurin-Sandrow Syndrome - a review of the literature and classification system".

INTRODUCTION: Laurin-Sandrow syndrome also known as tetramelic mirror-image polydactyly is a rare congenital disorder characterized classically by polysyndactyly of the hands, mirror feet and nose anomalies (hypoplasia of the nasal alae and short columella) often associated with ulnar and/or fibular duplication. As a pathologic entity, it is heterogeneous, the patients displaying a variety of symptoms. This review aims to analyze the different aspects of the condition, such as clinical findings and methods of treatment to summarize the principal features of Laurin-Sandrow syndrome. MATERIALS AND METHODS: The review is based on searches on PubMed, Web of Science and Researchgate of the following terms: "Laurin-Sandrow syndrome", "mirror hands", "mirror feet", "tetramelic mirror-image polydactyly", "fibular dimelia" and "ulnar dimelia". Clinical cases, reviews and original articles were included. RESULTS: As a consequence of our findings, we suggest a modification of the Al-Qattan classification system for Mirror Hand-Multiple Hand Spectrum. CONCLUSION: Even though it has an extremely low incidence, a thorough understanding of the syndrome enables the surgeon to choose the appropriate treatment with the ultimate goal to improve the patient's life quality.

Congenital Vertical Talus.

Congenital vertical talus represents a congenital structural foot deformity characterized by the classical rocker bottom deformity. The main feature is dislocation of the talonavicular joint along with contractures of the dorsolateral tendons of the foot and tendo Achilles. In the past treatment consisted of 2- or single-stage more or less extensive soft tissue releases including reduction of the talonavicular joint following casting in the first phase. Nowadays all feet are treated by serial casting, closed or miniopen talonavicular joint reduction, and percutaneous achillotenotomy. Functional results of the miniinvasive method are superior to those of the former more extensive surgical releases.

Epilepsy in Nicolaides-Baraitser Syndrome: Review of Literature and Report of 25 Patients Focusing on Treatment Aspects.

Nicolaides-Baraitser syndrome (NCBRS), caused by a mutation in the SMARCA2 gene, which goes along with intellectual disability, congenital malformations, especially of face and limbs, and often difficult-to-treat epilepsy, is surveyed focusing on epilepsy and its treatment. Patients were recruited via "Network Therapy of Rare Epilepsies (NETRE)" and an international NCBRS parent support group. Inclusion criterion is NCBRS-defining SMARCA2 mutation. Clinical findings including epilepsy classification, anticonvulsive treatment, electroencephalogram (EEG) findings, and neurodevelopmental outcome were collected with an electronic questionnaire. Inclusion of 25 NCBRS patients with epilepsy in 23 of 25. Overall, 85% of the participants (17/20) reported generalized seizures, the semiology varied widely. EEG showed generalized epileptogenic abnormalities in 53% (9/17), cranial magnetic resonance imaging (cMRI) was mainly inconspicuous. The five most frequently used anticonvulsive drugs were valproic acid (VPA [12/20]), levetiracetam (LEV [12/20]), phenobarbital (PB [8/20]), topiramate (TPM [5/20]), and carbamazepine (CBZ [5/20]). LEV (9/12), PB (6/8), TPM (4/5), and VPA (9/12) reduced the seizures' frequency in more than 50%. Temporary freedom of seizures (>6 months) was reached with LEV (4/12), PB (3/8), TPM (1/5, only combined with PB and nitrazepam [NZP]), and VPA (4/12). Seizures aggravation was observed under lamotrigine (LTG [2/4]), LEV (1/12), PB (1/8), and VPA (1/12). Ketogenic diet (KD) and vagal nerve stimulation (VNS) reduced seizures' frequency in one of two each. This first worldwide retrospective analysis of anticonvulsive therapy in NCBRS helps to treat epilepsy in NCBRS that mostly shows only initial response to anticonvulsive therapy, especially with LEV and VPA, but very rarely shows complete freedom of seizures in this, rather genetic than structural epilepsy.

Efecto de la morfología de las plantas de los pies en la distribución de presión plantar en atletas jóvenes con diferentes tipos de pie / Effect of the morphology of the soles of the feet on plantar pressure distribution in young athletes with different foot types

INTRODUCCIÓN Y OBJETIVOS: Estudios previos han sugerido que las diferencias en la estructura de los pies podrían afectar el comportamiento de la distribución de la presión plantar, por lo que esto podría aumentar la probabilidad de sufrir una lesión. El objetivo de este trabajo fue determinar el efecto de la morfología de las plantas de los pies sobre la distribución de la presión plantar entre el pie normal, el pie plano, cavo extremo y el pie cavo en condiciones estáticas y dinámicas. METODOLOGÍA: Ciento dieciocho deportistas, con una edad promedio de 14,45 ± 2,17 años y una masa promedio de 58,78 ± 12,18kg, participaron en esta investigación. Ninguno de los participantes presentó alguna lesión que le impidiera realizar las pruebas. RESULTADOS: Se encontró que la distribución de la carga en el retropié del pie plano, el cavo extremo y el pie cavo fue mayor que la presión del pie normal en condiciones estáticas. Sin embargo, el análisis ANOVA no mostró una diferencia significativa entre estas condiciones de los pies (pie derecho p = 0,25 y pie izquierdo p = 0,36). El análisis de la presión en condiciones dinámicas reveló que los deportistas con pie cavo en el pie derecho presentaron un valor más elevado en la región de los metatarsos; esto podría ser un factor de riesgo para producir alteraciones musculoesqueléticas. Por el contrario, la disminución de presión en sujetos con pie plano presentaría un riesgo menor. CONCLUSIÓN: El análisis de la distribución de la presión plantar entre los 4tipos de pies en condiciones estáticas y dinámicas demuestra que la presión plantar se modifica por el tipo de pie que presenta cada individuo. Los resultados del presente trabajo contribuyen de forma directa en conocer más a profundidad la biomecánica de la distribución de presión plantar en sujetos con diferente tipo de pie

INTRODUCTION AND OBJECTIVE: Previous studies have suggested that differences in the structure of the feet might affect the behaviour of plantar pressure distribution, this might increase the probability of getting injured. The objective of this work was to determine the effect of the morphology of the soles of the feet on plantar pressure distribution among normal foot, flatfoot, extreme cavus and cavus foot in static and dynamic conditions. METHODOLOGY: One hundred and eighteen athletes, mean age 14.45 ± 2.17 years, mean mass 58.78 ± 12.18kg took part in this research. None of the participants presented an injury that prevented them from carrying out the tests. RESULTS: It was found that the load distribution in the hindfoot of the flat foot, extreme cavus and cavus foot was higher than the normal foot in static condition. However, One-way ANOVA analysis did not show a significant difference among these feet conditions (right foot, P=.25 and left foot, P=.36). The analysis of pressure in dynamic conditions revealed that athletes with right cavus foot had a higher value in the metatarsal region, this could be a risk factor for producing musculoskeletal abnormalities. Conversely, lowering pressure in flatfoot subjects would present a lower risk. CONCLUSION: The analysis of the plantar pressure distribution among the 4types of feet in static and dynamic conditions proves that plantar pressure is modified by the type of foot of each individual. The results of the current work contribute directly to learning more about the biomechanics of plantar pressure distribution in subjects with different foot types

Polydactyly of the Foot: A Review.

Pediatric foot polydactyly presents in a wide variety of deformities from single extra digits attached only by a narrow soft-tissue connection to complex central foot duplications with tarsal bone duplication. The goal of surgical reconstruction is a stable, mobile, pain-free foot with five cosmetically appealing toes that allows for normal footwear and painless ambulation. This review covers the incidence, genetics and embryology, classification, presentation and natural history, physical examination, radiographic assessment, and surgical intervention for all types of foot polydactyly.

Generalised hypomineralisation of enamel in oculodentodigital dysplasia: comprehensive dental management of a case.

Oculodentodigital dysplasia (ODDD) is a rare congenital disorder characterised by developmental abnormalities of the eye, dentition and digits of the hands and feet, with neurological symptoms reported in 30% of individuals. Dental anomalies associated with ODDD include enamel hypoplasia and subsequent caries, microdontia, missing teeth, amelogenesis imperfecta, pulp stones and delayed tooth development. Here, we describe the comprehensive dental management of a 3-year-old girl who presented with rapid deterioration of the primary dentition due to generalised enamel hypomineralisation. Conservative, comprehensive restorative management was performed under general anaesthesia. Within 6 months, further breakdown of the remaining unrestored enamel was noted. This case documents the challenges of conservative management in dental anomalies that are not well documented due to the extreme rarity of the disorder.

A case report of bilateral mirror feet with varus deformity.

OBJECTIVES: To describe a rare case of bilateral mirror feet with varus deformity and review of literature. METHODS: AP and oblique radiographs of both feet were taken. RESULTS: On radiographs, right foot showed eight toes and seven metatarsals while left foot showed eight toes and seven metatarsals, the three extra toes were present preaxially (on hallux side) in both feet, showing characteristics of postaxial toes termed as "mirror foot". Varus deformity was noted at the subtalar joint, otherwise tarsal bones appeared normal. No any syndromatic association was present. CONCLUSION: Mirror foot is a very rare congenital anomaly, we put forward this case for its rarity and unusual late presentation at the age of 22.

Helal Metatarsal Osteotomy in Apert Foot.

BACKGROUND: Apert syndrome is a rare condition characterized by a craniosynostosis associated with complex bilateral malformations of the hands and feet. Although correction of syndactyly of the extremities is largely described, just a few authors have focused their attention on the gradual subluxation of the second metatarsal head during child growth, with hyper pressure, hyperkeratosis on the plantar surface and acute pain leading to walking impairment. The aim of this study is to describe our experience with the Helal metatarsal osteotomy technique on this group of patients. An oblique osteotomy performed dorsal to plantar, proximal to distal on the subluxed metatarsal bone is carried out. No internal bone fixation is needed, but a fundamental hypercorrective bandage is placed under the plantar surface. Immediate full weight-bearing, 24 hours after surgery, is highly recommended. METHODS: Seventeen feet of 12 patients were treated between 2003 and 2018. Corrective osteotomy was performed on a single bone in 13 patients, on 2 bones in 3 patients, and on 3 bones on 1 patient. The mean follow-up was 5 years, with a physical examination once a year. RESULTS: No complication such as infection or delayed wound healing was registered. X-rays taken 3 weeks after surgery showed complete bone consolidation and a correction of the previous plantarflexed position of the metatarsal with consistent reduction of pressure and pain for every patient who was able to wear normal shoes again after surgery. CONCLUSION: The Helal metatarsal osteotomy is a safe, reproducible, and feasible technique that should be considered in cases of painful metatarsal head plantar subluxation in Apert feet. LEVEL OF EVIDENCE: Level IV.

Prenatal diagnosis of fibular aplasia-tibial campomelia-oligosyndactyly syndrome: Two case reports and review of the literature.

Fibular aplasia-tibial campomelia-oligosyndactyly also known as FATCO syndrome is a rare condition characterized by fibular aplasia, shortening and anterior bowing of the lower limb at the tibia with overlying soft tissue dimpling and oligosyndactyly. Its etiology is currently unknown, but there is a male predominance. There are less than 30 cases reported in the literature but only three with prenatal diagnosis. We report two cases of FATCO syndrome with prenatal lower limb malformation diagnosis. Identification of the ultrasound findings of this condition in the prenatal stages allows an adequate parental counselling regarding the clinical features, prognosis, and potential treatments.

Is the One Ray Normal or Are the Rest Shorter?: Brachymetapody-A Case Report.

In this case report, we present the case of a 20-year-old male patient who suffered from pain in walking clinically, and in whom an extremely rare type of brachymetatarsia was diagnosed. Although distorted body image is the main reason for consulting a specialist, the patient presented because he was unable to find a proper shoe. The patient had no familial history of brachydactyly, trauma, or a genetic disorder. In this extremely rare case, the decision was made to perform shortening of the normal foot ray with a double osteotomy to the metatarsal and proximal phalanx. At the end of the follow-up period, the patient was walking pain-free and had no limitation in shoe choice.

Brachymetacarpia and Brachymetatarsia in Patients with Multiple Hereditary Exostosis.

BACKGROUND: Multiple hereditary exostosis is a common autosomal dominant inherited musculoskeletal disorder that manifests with multiple osteochondromas. The clinical manifestations and pathological characteristics of osteochondromas found in the long bone and genetic alterations related to multiple hereditary exostosis have been widely reported. In this study, we investigated the characteristics of brachymetacarpia and brachymetatarsia associated with multiple hereditary exostosis. METHODS: Of the 133 patients with a diagnosis of multiple hereditary exostosis who were recruited from 2005 to 2018, 101 patients who underwent plain radiography after 10 years of age were included. There were 55 male (54.5%) and 46 female (45.5%) patients. Brachymetacarpia or brachymetatarsia was diagnosed when disruption of the Lièvre parabola connecting the metacarpal or metatarsal heads was observed on plain radiographs. Three orthopedic surgeons individually reviewed hand and foot plain radiographs. RESULTS: Of the 101 patients, 41 patients (40.6%) had more than 1 brachymetacarpia (88 cases) or brachymetatarsia (81 cases). Among 41 cases, 22 (53.7%) were male and 19 (46.3%) were female. The mean age at the time of radiographic evaluation of the hands and feet was 14.6 years (range, 10-63 years). Shortening was most commonly found in the 3rd and 4th metacarpal or metatarsal bones. CONCLUSIONS: We found a relatively high incidence of brachymetacarpia and brachymetatarsia in our patients. Physicians should suspect the presence of brachymetacarpia and brachymetatarsia when treating patients with multiple hereditary exostosis.

Os Intermetatarseum and Polymetatarsia Without Polydactyly: A Case Report.

Nontraumatic bony abnormalities of the foot occur at different rates, according to the literature. However, it is uncommon to see rare variations presenting together in one patient. This article discusses two less common anomalies: fused os intermetatarseum and polymetatarsia without polydactyly. Etiology, symptomology, diagnosis, and treatment are reviewed, in addition to the relationship of the two conditions to each other. We then discuss a case where both anomalies are present at the same time in a 17-year-old patient.

Is foot deformity associated with developmental dysplasia of the hip?

AIMS: To assess if congenital foot deformity is a risk factor for developmental dysplasia of the hip (DDH). METHODS: Between 1996 and 2012, 60,844 children were born in Sør-Trøndelag county in Norway. In this cohort study, children with risk factors for DDH were examined using ultrasound. The risk factors evaluated were clinical hip instability, breech delivery, a family history of DDH, a foot deformity, and some syndromes. As the aim of the study was to examine the risk for DDH and foot deformity in the general population, children with syndromes were excluded. The information has been prospectively registered and retrospectively analyzed. RESULTS: Overall, 494 children (0.8%) had DDH, and 1,132 (1.9%) a foot deformity. Of the children with a foot deformity, 49 (4.3%) also demonstrated DDH. There was a statistically significant increased association between DDH and foot deformity (p < 0.001). The risk of DDH was highest for talipes calcaneovalgus (6.1%) and club foot (3.5%), whereas metatarsus adductus (1.5%) had a marginal increased risk of DDH. CONCLUSION: Compared with the general population, children with a congenital foot deformity had a significantly increased risk for DDH and therefore we regard foot deformity as a true risk factor for DDH. Cite this article: Bone Joint J 2020;102-B(11):1582-1586.

Polydactyly of the Foot Diagnosed from a Minor Nail Problem.

Polydactyly is one of the most common foot congenital anomalies. It is often detected immediately after birth, but the diagnosis can sometimes be delayed if the symptoms are less evident. A 2-year-old girl with a complaint of recurrent bleeding from the right toenail was diagnosed with foot polydactyly. She underwent corrective surgery, and her family was satisfied with the outcome. Although the diagnosis of polydactyly may be difficult in cases with minor nail problems, further radiographic evaluation will be needed for the improvement of the patient's quality of life.