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International multidisciplinary collaboration toward an annotated definition of arthrogryposis multiplex congenita

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...

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Autores principales: Dahan‐Oliel, Noémi, Cachecho, Sarah, Barnes, Douglas, Bedard, Tanya, Davison, Ann M., Dieterich, Klaus, Donohoe, Maureen, Fąfara, Alicja, Hamdy, Reggie, Hjartarson, Helgi T., S. Hoffman, Naimisha, Kimber, Eva, Komolkin, Igor, Lester, Ruth, Pontén, Eva, van Bosse, Harold J. P., Hall, Judith G.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6771513/
https://www.ncbi.nlm.nih.gov/pubmed/31282072
http://dx.doi.org/10.1002/ajmg.c.31721
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author Dahan‐Oliel, Noémi
Cachecho, Sarah
Barnes, Douglas
Bedard, Tanya
Davison, Ann M.
Dieterich, Klaus
Donohoe, Maureen
Fąfara, Alicja
Hamdy, Reggie
Hjartarson, Helgi T.
S. Hoffman, Naimisha
Kimber, Eva
Komolkin, Igor
Lester, Ruth
Pontén, Eva
van Bosse, Harold J. P.
Hall, Judith G.
author_facet Dahan‐Oliel, Noémi
Cachecho, Sarah
Barnes, Douglas
Bedard, Tanya
Davison, Ann M.
Dieterich, Klaus
Donohoe, Maureen
Fąfara, Alicja
Hamdy, Reggie
Hjartarson, Helgi T.
S. Hoffman, Naimisha
Kimber, Eva
Komolkin, Igor
Lester, Ruth
Pontén, Eva
van Bosse, Harold J. P.
Hall, Judith G.
author_sort Dahan‐Oliel, Noémi
collection PubMed
description 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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spelling pubmed-67715132019-10-03 International multidisciplinary collaboration toward an annotated definition of arthrogryposis multiplex congenita Dahan‐Oliel, Noémi Cachecho, Sarah Barnes, Douglas Bedard, Tanya Davison, Ann M. Dieterich, Klaus Donohoe, Maureen Fąfara, Alicja Hamdy, Reggie Hjartarson, Helgi T. S. Hoffman, Naimisha Kimber, Eva Komolkin, Igor Lester, Ruth Pontén, Eva van Bosse, Harold J. P. Hall, Judith G. Am J Med Genet C Semin Med Genet Research Articles 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. John Wiley & Sons, Inc. 2019-07-07 2019-09 /pmc/articles/PMC6771513/ /pubmed/31282072 http://dx.doi.org/10.1002/ajmg.c.31721 Text en © 2019 The Authors American Journal of Medical Genetics Part C: Seminars in Medical Genetics published by Wiley Periodicals, Inc. This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc/4.0/ License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited and is not used for commercial purposes.
spellingShingle Research Articles
Dahan‐Oliel, Noémi
Cachecho, Sarah
Barnes, Douglas
Bedard, Tanya
Davison, Ann M.
Dieterich, Klaus
Donohoe, Maureen
Fąfara, Alicja
Hamdy, Reggie
Hjartarson, Helgi T.
S. Hoffman, Naimisha
Kimber, Eva
Komolkin, Igor
Lester, Ruth
Pontén, Eva
van Bosse, Harold J. P.
Hall, Judith G.
International multidisciplinary collaboration toward an annotated definition of arthrogryposis multiplex congenita
title International multidisciplinary collaboration toward an annotated definition of arthrogryposis multiplex congenita
title_full International multidisciplinary collaboration toward an annotated definition of arthrogryposis multiplex congenita
title_fullStr International multidisciplinary collaboration toward an annotated definition of arthrogryposis multiplex congenita
title_full_unstemmed International multidisciplinary collaboration toward an annotated definition of arthrogryposis multiplex congenita
title_short International multidisciplinary collaboration toward an annotated definition of arthrogryposis multiplex congenita
title_sort international multidisciplinary collaboration toward an annotated definition of arthrogryposis multiplex congenita
topic Research Articles
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6771513/
https://www.ncbi.nlm.nih.gov/pubmed/31282072
http://dx.doi.org/10.1002/ajmg.c.31721
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