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.].

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.

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.

Natural Progression and Symptomatic Management of Tarsal-Carpal Coalition Syndrome: A Case Report.

CASE: Tarsal-carpal coalition syndrome (TCCS) is a disorder identified by fusion of the carpals, tarsals, and phalanges of the hands and feet. We describe a case of an 11-year-old girl who has been followed at our outpatient clinic from the age of 8 months. CONCLUSION: Although patients with TCCS can experience a wide range of symptoms, the primary complaint arises from the foot deformity and associated pain. Using advanced imaging such as 3D computed tomography reconstruction and genetic testing, this report details the clinical, genetic, and radiographic characteristics of the disorder. We highlight the natural progression and symptomatic management of TCCS.

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.

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.

Cardiac phenotype in ATP1A3-related syndromes: A multicenter cohort study.

OBJECTIVE: To define the risks and consequences of cardiac abnormalities in ATP1A3-related syndromes. METHODS: Patients meeting clinical diagnostic criteria for rapid-onset dystonia-parkinsonism (RDP), alternating hemiplegia of childhood (AHC), and cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS) with ATP1A3 genetic analysis and at least 1 cardiac assessment were included. We evaluated the cardiac phenotype in an Atp1a3 knock-in mouse (Mashl+/-) to determine the sequence of events in seizure-related cardiac death. RESULTS: Ninety-eight patients with AHC, 9 with RDP, and 3 with CAPOS (63 female, mean age 17 years) were included. Resting ECG abnormalities were found in 52 of 87 (60%) with AHC, 2 of 3 (67%) with CAPOS, and 6 of 9 (67%) with RDP. Serial ECGs showed dynamic changes in 10 of 18 patients with AHC. The first Holter ECG was abnormal in 24 of 65 (37%) cases with AHC and RDP with either repolarization or conduction abnormalities. Echocardiography was normal. Cardiac intervention was required in 3 of 98 (≈3%) patients with AHC. In the mouse model, resting ECGs showed intracardiac conduction delay; during induced seizures, heart block or complete sinus arrest led to death. CONCLUSIONS: We found increased prevalence of ECG dynamic abnormalities in all ATP1A3-related syndromes, with a risk of life-threatening cardiac rhythm abnormalities equivalent to that in established cardiac channelopathies (≈3%). Sudden cardiac death due to conduction abnormality emerged as a seizure-related outcome in murine Atp1a3-related disease. ATP1A3-related syndromes are cardiac diseases and neurologic diseases. We provide guidance to identify patients potentially at higher risk of sudden cardiac death who may benefit from insertion of a pacemaker or implantable cardioverter-defibrillator.

Plantar Pressure Distribution of Right and Left Foot in Bilateral Clubfoot Treated by Ponseti Method: A Correlation Analysis.

BACKGROUND Congenital clubfoot is a common pediatric orthopedic deformity that can be corrected by Ponseti method, and pedobarographic analysis has been used to assess the outcomes. However, the relationship between the plantar pressure distribution of the right and left foot in children with bilateral clubfoot has not been studied. In this study, the pedobarographic data of patients with bilateral clubfoot who were treated by the Ponseti method were reviewed, and a correlation analysis was conducted to clarify the relationship between the right and left foot. MATERIAL AND METHODS A retrospective cross-sectional study of children with bilateral clubfoot who were treated by the Ponseti method in infancy was performed, in which all the patients were available for clinical evaluation, and pedobarographic analysis was conducted on each patient after treatment. The Pearson's correlation coefficient (r) were calculated for all the measurements of the left and right foot. RESULTS A total of 20 children (mean age 6.9±1.07 years, range 4-8 years) with bilateral clubfoot who were treated by the Ponseti method were included. The Dimeglio and Pirani scores before and after treatment between the right and left foot were significantly correlated. All the pedobarographic measurements between the left and right foot were correlated, indicating different degrees of positive correlation. CONCLUSIONS The plantar pressure measurements between the 2 feet in patients with bilateral clubfoot were highly correlated before treatment, and a correlation was also observed after those patients were treated by the Ponseti method. We should take these correlations into consideration during study design and analysis of clubfoot cases.

Conjoined twins presenting with foot deformities: insights to management and challenges.

Conjoined twins are a rare outcome of conception associated with numerous anomalies involving multiple organ systems. Musculoskeletal abnormalities like vertebral anomalies, sacral agenesis, foot deformities and hip dysplasia have been described in literature. We describe two cases of pyopagus twins with congenital talipes equinovarus and congenital vertical talus deformity which have not been described previously in this type of conjoined twins. The orthopaedist should look actively for such deformities in this patient population and be wary of the difficulties associated with their management.

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.

Metatarsalgia in Metatarsus Adductus Patients: A Rational Approach.

Metatarsus adductus (MA) is a congenital condition resulting in adduction of the forefoot at the tarsometatarsal joint, medial metatarsal deviation, supination of the hindfoot through the subtalar joint, and plantarflexed first ray. The exact underlying pathophysiology remains elusive. There is increasing evidence highlighting the importance of recognizing MA as an associated deformity that complicates management of hallux valgus (HV). Unfortunately, metatarsalgia and lesser toe pathology is also common in this population. We present a review regarding the epidemiology, pathomechanics, and a comprehensive surgical treatment algorithm to optimize the management of patients with MA, HV, lesser toe deformity, and metatarsalgia.

Effectiveness of Nonoperative Treatment of the Symptomatic Accessory Navicular in Pediatric Patients.

Background: Initial management of symptomatic accessory navicular in pediatric patients is nonoperative. However, efficacy of nonoperative treatment has not been studied or established. If nonoperative treatment is frequently unsuccessful or does not give lasting pain relief, surgery could be offered as first line treatment. This study retrospectively reviewed outcomes of pediatric patients treated nonoperatively for symptomatic accessory naviculae in an effort to provide clinicians success rates for their discussion of treatment options with patients and their families. Methods: A retrospective analysis of pediatric patients diagnosed and treated nonoperatively for a symptomatic accessory navicular bone at Cincinnati Children's Hospital Medical Center between dates August 1st, 2006 and August 24th, 2016 was performed. Outcome measures consisted of complete pain relief, partial relief without operative intervention, or need for operative intervention. Radiographic imaging for each patient was also used to identify the type of accessory navicular and presence of concurrent pes planus. Results: A total of 169 patients were included, with 226 symptomatic accessory naviculae. Average age at diagnosis was 11.8 years, with majority females (78%). Type 2 accessory naviculae were most frequent (72.7%), with Type 1 and Type 3 in 9.7% and 17.4%, respectively. Average number of nonoperative trials was 2.1, with 28% experiencing complete pain relief, 30% requiring surgical intervention, and 41% that experienced partial pain relief and did not require surgical intervention, and were recommended as needed (PRN) follow-up based on clinical improvement. Of those that achieved complete pain relief, the average length of non-operative treatment was 8.0 months. Conclusions: The results of this study can be used by clinicians to frame discussions surrounding treatment options for symptomatic accessory navicular bones with both patients and their families.Level of Evidence: III.

Prevalence and orthopedic management of foot and ankle deformities in Charcot-Marie-Tooth disease.

INTRODUCTION: Foot deformities are frequent complications in Charcot-Marie-Tooth disease (CMT) patients, often requiring orthopedic surgery. However, there are no prospective, randomized studies on surgical management, and there is variation in the approaches among centers both within and between countries. METHODS: In this study we assessed the frequency of foot deformities and surgery among patients recruited into the Inherited Neuropathies Consortium (INC). We also designed a survey addressed to orthopedic surgeons at INC centers to determine whether surgical approaches to orthopedic complications in CMT are variable. RESULTS: Foot deformities were reported in 71% of CMT patients; 30% of the patients had surgery. Survey questions were answered by 16 surgeons working in different specialized centers. Most of the respondents were foot and ankle surgeons. There was marked variation in surgical management. DISCUSSION: Our findings confirm that the approaches to orthopedic management of CMT are varied. We identify areas that require further research. Muscle Nerve 57: 255-259, 2018.

Common paediatric conditions of the lower limb.

Growing children are susceptible to a number of disorders to their lower extremities of varying degrees of severity. The diagnosis and management of these conditions can be challenging. With musculoskeletal symptoms being one of the leading reasons for visits to general practitioners, a working knowledge of the basics of these disorders can help in the appropriate diagnosis, treatment, counselling, and specialist referral. This review covers common disorders affecting the hip, the knee and the foot. The aim is to assist general practitioners in recognising developmental norms and differentiating physiological from pathological conditions and to identify when a specialist referral is necessary.

FATCO Syndrome (Fibular Aplasia, Tibial Campomelia, Oligosyndactyly with Talar Aplasia). A Case Study.

FATCO syndrome consists of fibular hemimelia, tibial campomelia and oligosyndactyly. FATCO syndrome can also be associated with other congenital anomalies; therefore, every case needs thorough evaluation so as to make the management of the patient easier. A few cases of this syndrome have been described in literature but only two cases have been reported in India so far. We present a 3-year-old male child born of a non-con-sanguinous marriage with FATCO syndrome and ipilateral talar aplasia without any other congenital anomalies.

The 2017 ABJS Nicolas Andry Award: Advancing Personalized Medicine for Clubfoot Through Translational Research.

BACKGROUND: Clubfoot is one of the most common pediatric orthopaedic disorders. While the Ponseti method has revolutionized clubfoot treatment, it is not effective for all patients. When the Ponseti method does not correct the foot, patients are at risk for lifelong disability and may require more-extensive surgery. QUESTIONS/PURPOSES: (1) What genetic and morphologic abnormalities contribute to the development of clubfoot? (2) How can this information be used to devise personalized treatment paradigms for patients with clubfoot? METHODS: Human gene sequencing, molecular genetic engineering of mouse models of clubfoot, MRI of clubfoot, and development of new treatment methods all have been used by our group to understand the biological basis and improve therapy for this group of disorders. RESULTS: We gained new insight into clubfoot pathogenesis from our discovery that mutations in the PITX1-TBX4-HOXC transcriptional pathway cause familial clubfoot and vertical talus in a small number of families, with the unique lower limb expression of these genes providing an explanation for the lack of upper extremity involvement in these disorders. MRI studies revealed corresponding morphologic abnormalities, including hypomorphic muscle, bone, and vasculature, that are not only associated with these gene mutations, but also are biomarkers for treatment-resistant clubfoot. CONCLUSIONS: Based on an understanding of the underlying biology, we improved treatment methods for neglected and syndromic clubfoot, developed new treatment for congenital vertical talus based on the principles of the Ponseti method, and designed a new dynamic clubfoot brace to improve strength and compliance.

The fate of hips that are conservatively treated in multiple epiphyseal dysplasia.

We reviewed the radiologic and clinical outcomes of hip joints affected by multiple epiphyseal dysplasia in 40 patients. The average patient age was 9.6 years. All patients were followed up for an average of 7.2 years. No patient underwent surgical treatment. The variances of the center-edge angle and femoral head coverage had the greatest tendency to increase with conservative treatment and follow-up (P=0.011 and 0.015, respectively). The acetabular angle and the acetabular depth index at the first visit and the latest follow-up were statistically significantly different (P=0.046 and 0.027, respectively). According to the Stulberg classification, the severity of hip deformity became less severe with age, but this was not statistically significant (P=0.090). Larger improvements in Harris hip scores were identified after conservative treatment (P=0.003). Favorable midterm outcomes were obtained for the treatment of hip deformity in multiple epiphyseal dysplasia patients by conservative treatment.

A Simple Alternative Treatment for Syndactyly of the Toe.

Toe syndactyly is a common congenital malformation affecting approximately 1 in 2000 people and can cause significant emotional and psychological distress for the patient. We report a case of a 41-year-old female who was concerned about the aesthetic appearance of her bilateral second and third toe with incomplete, simple syndactyly and had requested surgical correction. A number of operative techniques have been described in the orthopedic and plastic surgery data, with no one technique proving superior. We used medical tattooing to create the appearance of a complete interdigital cleft. This low-risk, and low-cost procedure resulted in a satisfactory outcome for the patient. To the best of our knowledge, this is the first reported case using this technique, which we propose as a simple alternative to surgical correction of toe syndactyly.