ArticleAmerican journal of medical genetics. Part C, Seminars in medical genetics2019
International multidisciplinary collaboration toward an annotated definition of arthrogryposis multiplex congenita.
Article in American journal of medical genetics. Part C, Seminars in medical genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT07360574 (Piezo2-related Arthrogryposis & physiopathOLOgy 3), which is not on this map. Cited by 30 papers.
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.
Piezo2-related Arthrogryposis & physiopathOLOgy 3
Who cites it
30 citing papers in PubMed, 86 citations in OpenAlex.
- Using Telerehabilitation to Deliver a Home Exercise Program to Youth With Arthrogryposis: Single Cohort Pilot Study.Journal of medical Internet research · 2021Trial
- Article
- Arthrogryposis Multiplex Congenita: Comprehensive Review from a Neuromuscular Standpoint.Genes · 2026Review
- Gross motor functional classification for arthrogryposis multiplex congenita: protocol for co-development involving public with lived and professional experience.Research involvement and engagement · 2025Review
- The evolving genetic landscape of neuromuscular fetal akinesias.Journal of neuromuscular diseases · 2025Review
- Fetal Akinesia/Hypokinesia and Arthrogryposis of Neuromuscular Origin: Etiologic Groups, Genetics, and Phenotypic Spectrum.Annals of clinical and translational neurology · 2025Article
- Human Phenotype Ontology Annotations for Rare Congenital Conditions: Application to Arthrogryposis Multiplex Congenita.American journal of medical genetics. Part A · 2025Article
- Consensus-based recommendations for the rehabilitation of children with arthrogryposis multiplex congenita: an integrated knowledge translation approach.Orphanet journal of rare diseases · 2025Article
- Transcriptional Changes Associated with Amyoplasia.International journal of molecular sciences · 2024Article
- Midterm clinical and radiological outcomes of arthrogryposis-associated clubfoot treated with the Ponseti method: a retrospective observational study and comprehensive literature review.Journal of orthopaedic surgery and research · 2024Observational
- The experience of caregiving for children with rare musculoskeletal conditions: a qualitative study in arthrogryposis multiplex congenita.Orphanet journal of rare diseases · 2024Article
- Bone mineral density in adults with arthrogryposis multiplex congenita: a retrospective cohort analysis.Scientific reports · 2024Article
- Article
- The Human Phenotype Ontology in 2024: phenotypes around the world.Nucleic acids research · 2024Article
- Measurement Repeatability and Reproducibility of Virtual Goniometry of a Set of Acquired Images in Youths with Arthrogryposis Multiplex Congenita.Journal of musculoskeletal & neuronal interactions · 2023Article
- Rehabilitation in Patients Diagnosed with Arthrogryposis Multiplex Congenita: A Systematic Review.Children (Basel, Switzerland) · 2023Review
- Similar Cognitive Skill Impairment in Children with Upper Limb Motor Disorders Due to Arthrogryposis Multiplex Congenita and Obstetrical Brachial Plexus Palsy.International journal of environmental research and public health · 2023Article
- Altered Cerebral Processing of Videos in Children with Motor Dysfunction Suggests Broad Embodiment of Perceptual Cognitive Functions.Journal of personalized medicine · 2022Article
- Do Children With Congenital Zika Syndrome Have Cerebral Palsy?Global health, science and practice · 2022Article
- Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
17 authors at 15 institutions in 8 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Arthrogryposis multiplex congenita (AMC) has been described and defined in thousands of articles, but the terminology used has been inconsistent in clinical and research communities. A definition of AMC was recently developed using a modified Delphi consensus method involving 25 experts in the field of AMC from 8 countries. Participants included health care professionals, researchers, and individuals with AMC. An annotation of the definition provides more in-depth explanations of the different sentences of the AMC definition and is useful to complement the proposed definition. The aim of this study was to provide an annotation of the proposed consensus-based AMC definition. For the annotation process, 17 experts in AMC representing 10 disciplines across 7 countries participated. A paragraph was developed for each sentence of the definition using an iterative process involving multiple authors with varied and complementary expertise, ensuring all points of view were taken into consideration. The annotated definition provides an overview of the different topics related to AMC and is intended for all stakeholders, including youth and adults with AMC, their families, and clinicians and researchers, with the hopes of unifying the understanding of AMC in the international community.
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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.