ArticleJournal of children's orthopaedics2019
The genetics of isolated and syndromic clubfoot.
Article in Journal of children's orthopaedics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT05293743 (Development and Evaluation of Novel Dynamic Bar for Foot Abduction Brace for Clubfoot Treatment), which is not on this map. Cited by 21 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Development and Evaluation of Novel Dynamic Bar for Foot Abduction Brace for Clubfoot Treatment
Who cites it
21 citing papers in PubMed, 1 synthesis or guideline pooled it, 46 citations in OpenAlex.
- A thorough analysis of data on the correlation between COL9A1 polymorphisms and the susceptibility to congenital talipes equinovarus: a meta-analysis.Journal of orthopaedic surgery and research · 2024Pooled it
- Congenital Clubfoot as an Early Manifestation of Duchenne Muscular Dystrophy?Muscles (Basel, Switzerland) · 2026Article
- Unraveling the Clinical and Genetic Landscape of Talipes Equinovarus (Clubfoot).Molecular syndromology · 2026Review
- MiRNA Expression Profile as a Potential Biomarker for Idiopathic Congenital Talipes Equinovarus: An Exploratory Study.Orthopedic reviews · 2026Article
- 3D steady-state free precession in fetal body MR imaging: A useful adjunctive sequence.Acta radiologica open · 2026Article
- Genetics, epidemiology and management of clubfoot and related disorders.Genes & diseases · 2025Review
- The Genetics of 241 Fetuses With Talipes Equinovarus: A 8-Year Monocentric Retrospective Study.Molecular genetics & genomic medicine · 2025Article
- The perspectives of caregivers and health service providers on barriers to clubfoot management in Puri-Urban health facility in Ghana.Journal of children's orthopaedics · 2024Article
- Exome sequencing of 1190 non-syndromic clubfoot cases revealsJournal of medical genetics · 2024Article
- Clinical Characteristics and Whole Exome Sequencing Analysis in Serbian Cases of Clubfoot Deformity-Single Center Study.Children (Basel, Switzerland) · 2024Article
- Human DNA Mutations and their Impact on Genetic Disorders.Recent patents on biotechnology · 2024Review
- Prenatal diagnosis and genetic etiology analysis of talipes equinovarus by chromosomal microarray analysis.BMC medical genomics · 2023Article
- Incidence and prevalence of congenital clubfoot in Apulia: a regional model for future prospective national studies.Italian journal of pediatrics · 2023Review
- Whole exome sequencing improves genetic diagnosis of fetal clubfoot.Human genetics · 2023Article
- Association of Socioeconomic Status With Relapse After Ponseti Method Treatment of Idiopathic Clubfeet.Foot & ankle orthopaedics · 2022Article
- Clubfoot pathology in fetus and pathogenesis. A new pathogenetic theory based on pathology, imaging findings and biomechanics-a narrative review.Annals of translational medicine · 2021Review
- Co-occurrence of orofacial clefts and clubfoot phenotypes in a sub-Saharan African cohort: Whole-exome sequencing implicates multiple syndromes and genes.Molecular genetics & genomic medicine · 2021Article
- Article
- Improving musculoskeletal health for children and young people - A 'call to action'.Best practice & research. Clinical rheumatology · 2020Review
- Retinoic Acid Promotes Retinoic Acid Signaling by Suppression of Pitx1 In Tendon Cells: A Possible Mechanism of a Clubfoot-Like Phenotype Induced by Retinoic Acid.Medical science monitor : international medical journal of experimental and clinical research · 2019Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeCongenital clubfoot is a serious birth defect that affects nearly 0.1% of all births. Though there is strong evidence for a genetic basis of isolated clubfoot, aside from a handful of associations, much of the heritability remains unexplained.
methodsBy systematically examining the genes involved in syndromic clubfoot, we may find new candidate genes and pathways to investigate in isolated clubfoot.
resultsIn addition to the expected enrichment of extracellular matrix and transforming growth factor beta (TGF-β) signalling genes, we find many genes involved in syndromic clubfoot encode peroxisomal matrix proteins, as well as enzymes necessary for sulfation of proteoglycans, an important part of connective tissue. Further, the association of Filamin B with isolated clubfoot as well as syndromic clubfoot is an encouraging finding.
conclusionWe should examine these categories for enrichment in isolated clubfoot patients to increase our understanding of the underlying biology and pathophysiology of this deformity. Understanding the spectrum of syndromes that have clubfoot as a feature enables a better understanding of the underlying pathophysiology of the disorder and directs future genetic screening efforts toward certain genes and genetic pathways. LEVEL OF EVIDENCE: V.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.