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.].

OBJECTIVE: The primary aim is to assess the efficacy of the surgical callus distraction technique of the metatarsus in paediatric patients. Secondary objectives are to assess complications and treatment duration. We have also described the details of our surgical technique.
METHODS: A case series review of paediatric patients who had metatarsal lengthening at our unit between 2014 and 2022. Patient demographics, duration of time in frame, complications and metatarsal length achieved were recorded. The AOFAS Midfoot and the MOXFQ were taken pre-operatively and at final follow-up.
RESULTS: Sixteen metatarsals in 8 patients (14 feet) underwent lengthening between 2014 and 2022 using the MiniRail OrthoFix 100 (Orthofix Medical Inc, Lewisville, TX, USA). The mean age was 13.3 (12-17) years. The average duration between surgery and implant removal was 5.2 months. According to Paley\'s classification, there was one obstacle encountered in a patient who required a revision of their osteotomy and one problem in another patient who had an infected metatarsophalangeal joint stabilising k-wire treated with oral antibiotics. The Mean AOFAS Midfoot score improved from 53.10 to 86.40 (p < 0.0001) and the Mean MOXFQ improved from 32.5000 to 12.1250 (p < 0.05); these were statistically significant.
CONCLUSIONS: Gradual metatarsal lengthening using the MiniRail external fixator is a safe and effective method to treat brachymetatarsia in paediatric patients. This preliminary report describes and supports metatarsal lengthening in appropriate patients. Holistic care in terms of a pre-operative assessment, psychological support and preparation for the extended rehabilitation period are vital.

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CAPOS syndrome is an autosomal dominant neurological disorder caused by mutations in the ATP1A3 gene. Initial symptoms, often fever-induced, include recurrent acute ataxic encephalopathy in childhood, featuring cerebellar ataxia, optic atrophy, areflflexia, sensorineural hearing loss, and in some cases, pes cavus. This report details a case of CAPOS syndrome resulting from a maternal ATP1A3 gene mutation. Both the child and her mother exhibited symptoms post-febrile induction,including severe sensorineural hearing loss in both ears, ataxia, areflexia, and decreased vision. Additionally, the patient\'s mother presented with pes cavus. Genetic testing revealed a c. 2452G>A（Glu818Lys） heterozygous mutation in theATP1A3 gene in the patient . This article aims to enhance clinicians\' understanding of CAPOS syndrome, emphasizing the case\'s clinical characteristics, diagnostic process, treatment, and its correlation with genotypeic findings.
摘要: CAPOS综合征是由ATP1A3基因引起的常染色体显性遗传的神经系统疾病，现报告1例母源性ATP1A3基因变异所致CAPOS综合征的病例，本例患儿及其母亲均表现为发热后诱发，双耳重度以上的神经性耳聋、共济失调、腱反射消失、视力下降，母亲高足弓。经全外显子测序及线粒体基因检测证实为ATP1A3c.2452G>A（Glu818Lys）杂合变异致病。本文通过阐述病例的临床特点、诊疗经过及其与基因型的相关性，提高临床医师对CAPOS综合征的认识。.

TP63-related disdorders broadly involve varying combinations of ectodermal dysplasia (sparse hair, hypohydrosis, tooth abnormalities, nail dysplasia), cleft lip/palate, acromelic malformation, split-hand/foot malformation/syndactyly, ankyloblepharon filiforme adnatum, lacrimal duct obstruction, hypopigmentation, and hypoplastic breasts and/or nipples. TP63-related disorders are associated with heterozygous pathogenic variants in TP63 and include seven overlapping phenotypes; Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome (AEC), Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome 3 (EEC3), Limb-mammary syndrome (LMS), Acro-dermo-ungual-lacrimal-tooth syndrome (ADULT), Rapp-Hodgkin syndrome (RHS), Split-hand/foot malformation 4 (SHFM4), and Orofacial cleft 8. We report on five unrelated families with 8 affected individuals in which the probands presented with varying combinations of ectodermal dysplasia, cleft lip/palate, split-hand/foot malformation, lacrimal duct obstruction, and ankyloblepharon filiforme adnatum. The clinical diagnosis involved AEC syndrome (2 patients), EEC3 syndrome (2 patients), and a yet hitherto unclassified TP63-related disorder. Sanger sequence analysis of the TP63 gene was performed revealing five different variants among which four were novel and three were de novo. The identificated TP63 variants co-segregated with the other affected individuals in the families. The abnormalities of ectoderm derived structures including hair, nails, sweat glands, and teeth should alert the physician to the possibility of TP63-related disorders particularly in the presence of orofacial clefting.

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.

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.
METHODS: 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.
CONCLUSIONS: Neonatal providers equipped with knowledge of common foot problems can provide support and anticipatory guidance to families.

Brachymetatarsia consists of a shortened metatarsal resulting in a shorter toe. Pain with shoe wear and cosmetic concerns are the main reasons for surgical intervention. Surgical techniques to increase metatarsal length include acute lengthening with interpositional bone grafting or gradual lengthening with callus distraction. We performed a retrospective cohort study for 1 surgeon\'s patients at 1 institution over 10 years. Twenty-nine feet in 22 patients met inclusion criteria for acute correction; 16 feet in 11 patients were included for gradual correction. Mean ages were 26.3 ± 12.1 and 27 ± 10.8 in the acute and gradual groups, respectively (p = .79). Most patients were female: 95.4% of acute cases and 90.1% of gradual cases. Most involved lengthening the fourth metatarsal: 86.7% and 100% of acute and gradual groups, respectively (p = .54). Correction obtained amounted to 14.4 ± 2.97 mm (range, 10-22 mm) in acute cases and 14.8 ± 2.39 mm (range, 10-20 mm) in gradual cases (p = .81). The mean percent increase in metatarsal length was 21.1 ± 14% for acute and 22.6 ± 12.4% for gradual (p = .72). Mean consolidation was 8.9 ± 2.51 weeks for acute and 21.4 ± 10.8 weeks for gradual (p = <.001). Nonunions were most common in the gradual group (37.5%) with need for more revisional surgery (43.5%) compared with the acute group; both were statistically significant. We conclude that acute brachymetatarsia correction can obtain correction similar to the gradual technique with fewer postoperative complications and less osseous consolidation time.

BACKGROUND: Congenital talipes equinovarus (clubfoot) is a common musculoskeletal anomaly, with a suspected multifactorial etiopathogenesis. Herein, we used publicly available data to ascertain liveborn infants with clubfoot delivered in Denmark during 1994-2021, and to classify co-occurring congenital anomalies, estimate annual prevalence, and compare clubfoot occurrence with maternal smoking rates, a commonly reported risk factor. Characterizing this nationwide, liveborn cohort provides a population-based resource for etiopathogenic investigations and life course surveillance.
METHODS: This case-cohort study used data from the Danish National Patient Register and Danish Civil Registration System, accessed through the publicly available Danish Biobank Register, to identify 1,315,282 liveborn infants delivered during 1994-2021 in Denmark to Danish parents. Among these, 2,358 infants (65.1% male) were ascertained with clubfoot and classified as syndromic (co-occurring chromosomal, genetic, or teratogenic syndromes) and nonsyndromic (isolated or co-occurring multiple congenital anomalies [MCA]). Annual prevalence estimates and corresponding 95% confidence intervals (CIs) for children with nonsyndromic clubfoot were estimated using Poisson regression and compared with population-based, maternal annual smoking rates obtained from publicly available resources.
RESULTS: Infants most often presented with nonsyndromic clubfoot (isolated = 88.6%; MCA = 11.4%); limb and heart anomalies were the most frequently identified MCAs. Prevalence (per 1,000 liveborn infants) was 1.52 (CI 1.45-1.58) for isolated and 0.19 (CI 0.17-0.22) for MCA clubfoot. Prevalence estimates for both isolated and MCA clubfoot remained relatively stable during the study period, despite marked decreases in population-based maternal smoking rates.
CONCLUSIONS: From 1994 to 2021, prevalence of nonsyndromic clubfoot in Denmark was relatively stable. Reduction in population-level maternal smoking rates did not seem to impact prevalence estimates, providing some support for the suspected multifactorial etiopathogenesis of this anomaly. This nationwide, liveborn cohort, ascertained and clinically characterized using publicly available data from the Danish Biobank Register, provides a population-based clinical and biological resource for future etiopathogenic investigations and life course surveillance.

Congenital talonavicular coalition is less frequent than the talocalcaneal or the calcaneonavicular and accounts for around 1% of all tarsal coalitions. Commonly, patients are asymptomatic and rarely need surgical treatment. Herein, we present a case of bilateral symptomatic talonavicular coalition in a seven-year-old boy who underwent surgery with full relief of symptoms. We also review the literature and discuss this pathological condition in detail.