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International Consensus Statement on the diagnosis, multidisciplinary management and lifelong care of individuals with achondroplasia.
Savarirayan, Ravi; Ireland, Penny; Irving, Melita; Thompson, Dominic; Alves, Inês; Baratela, Wagner A R; Betts, James; Bober, Michael B; Boero, Silvio; Briddell, Jenna; Campbell, Jeffrey; Campeau, Philippe M; Carl-Innig, Patricia; Cheung, Moira S; Cobourne, Martyn; Cormier-Daire, Valérie; Deladure-Molla, Muriel; Del Pino, Mariana; Elphick, Heather; Fano, Virginia; Fauroux, Brigitte; Gibbins, Jonathan; Groves, Mari L; Hagenäs, Lars; Hannon, Therese; Hoover-Fong, Julie; Kaisermann, Morrys; Leiva-Gea, Antonio; Llerena, Juan; Mackenzie, William; Martin, Kenneth; Mazzoleni, Fabio; McDonnell, Sharon; Meazzini, Maria Costanza; Milerad, Josef; Mohnike, Klaus; Mortier, Geert R; Offiah, Amaka; Ozono, Keiichi; Phillips, John A; Powell, Steven; Prasad, Yosha; Raggio, Cathleen; Rosselli, Pablo; Rossiter, Judith; Selicorni, Angelo; Sessa, Marco; Theroux, Mary; Thomas, Matthew; Trespedi, Laura.
Afiliación
  • Savarirayan R; Murdoch Children's Research Institute, Royal Children's Hospital, University of Melbourne, Parkville, Victoria, Australia. ravi.savarirayan@vcgs.org.au.
  • Ireland P; School of Health and Rehabilitation Sciences, University of Queensland, Brisbane, Queensland, Australia.
  • Irving M; Evelina London Children's Hospital, Guys & St Thomas' NHS Foundation Trust, London, UK.
  • Thompson D; Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
  • Alves I; ANDO Portugal / ERN BOND, Évora, Portugal.
  • Baratela WAR; Hospital Sirio-Libanes, Sao Paulo, Brazil.
  • Betts J; Centre for Nutrition, Exercise & Metabolism, Department for Health, University of Bath, Bath, UK.
  • Bober MB; Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE, USA.
  • Boero S; IRCCS Giannina Gaslini Genova, Genova, Italy.
  • Briddell J; Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE, USA.
  • Campbell J; Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE, USA.
  • Campeau PM; CHU Sainte-Justine Research Center, Montreal, Canada.
  • Carl-Innig P; BKMF, Bremen, Germany.
  • Cheung MS; Evelina London Children's Hospital, Guys & St Thomas' NHS Foundation Trust, London, UK.
  • Cobourne M; Centre for Craniofacial and Regenerative Biology, King's College London, London, UK.
  • Cormier-Daire V; Hôpital Necker-Enfants Malades, Paris, France.
  • Deladure-Molla M; Hôpital Necker-Enfants Malades, Paris, France.
  • Del Pino M; Paediatric Hospital Garrahan, Buenos Aires, Argentina.
  • Elphick H; Sheffield Children's Hospital, Sheffield, UK.
  • Fano V; Paediatric Hospital Garrahan, Buenos Aires, Argentina.
  • Fauroux B; Hôpital Necker-Enfants Malades, Paris, France.
  • Gibbins J; Evelina London Children's Hospital, Guys & St Thomas' NHS Foundation Trust, London, UK.
  • Groves ML; Johns Hopkins University School of Medicine, Baltimore, MD, USA.
  • Hagenäs L; Karolinska Hospital, Stockholm, Sweden.
  • Hannon T; Newcastle upon Tyne NHS Foundation Trust, Newcastle upon Tyne, UK.
  • Hoover-Fong J; Johns Hopkins University School of Medicine, Baltimore, MD, USA.
  • Kaisermann M; Greenberg Center for Skeletal Dysplasias, Johns Hopkins University, Baltimore, MD, USA.
  • Leiva-Gea A; Growing Stronger, Saratoga, CA, USA.
  • Llerena J; University Hospital Virgen de la Victoria, Málaga, Spain.
  • Mackenzie W; National Institute Fernandes Figueira, Rio de Janeiro, Brazil.
  • Martin K; Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE, USA.
  • Mazzoleni F; UCSF Benioff Children's Hospital, Oakland, CA, USA.
  • McDonnell S; ASST Monza, Monza, Italy.
  • Meazzini MC; Newcastle upon Tyne NHS Foundation Trust, Newcastle upon Tyne, UK.
  • Milerad J; San Paolo Hospital, Milan, Italy.
  • Mohnike K; Karolinska Hospital, Stockholm, Sweden.
  • Mortier GR; Universitätskinderklinik, Otto-von-Guericke Universität, Magdeburg, Germany.
  • Offiah A; Antwerp University Hospital and University of Antwerp, Antwerp, Belgium.
  • Ozono K; Sheffield Children's Hospital, Sheffield, UK.
  • Phillips JA; Department of Oncology and Metabolism, University of Sheffield, Sheffield, UK.
  • Powell S; Graduate School of Medicine, Osaka University, Osaka, Japan.
  • Prasad Y; Vanderbilt University Medical Center, Nashville, TN, USA.
  • Raggio C; Newcastle upon Tyne NHS Foundation Trust, Newcastle upon Tyne, UK.
  • Rosselli P; Evelina London Children's Hospital, Guys & St Thomas' NHS Foundation Trust, London, UK.
  • Rossiter J; Hospital for Special Surgery, New York, NY, USA.
  • Selicorni A; Fundación Cardio infantil Facultad de Medicina, Bogota, Colombia.
  • Sessa M; University of Maryland St. Joseph Medical Center, Towson, MD, USA.
  • Theroux M; ASST Lariana, Como, Italy.
  • Thomas M; AISAC, Milan, Italy.
  • Trespedi L; Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE, USA.
Nat Rev Endocrinol ; 18(3): 173-189, 2022 03.
Article en En | MEDLINE | ID: mdl-34837063
Achondroplasia, the most common skeletal dysplasia, is characterized by a variety of medical, functional and psychosocial challenges across the lifespan. The condition is caused by a common, recurring, gain-of-function mutation in FGFR3, the gene that encodes fibroblast growth factor receptor 3. This mutation leads to impaired endochondral ossification of the human skeleton. The clinical and radiographic hallmarks of achondroplasia make accurate diagnosis possible in most patients. However, marked variability exists in the clinical care pathways and protocols practised by clinicians who manage children and adults with this condition. A group of 55 international experts from 16 countries and 5 continents have developed consensus statements and recommendations that aim to capture the key challenges and optimal management of achondroplasia across each major life stage and sub-specialty area, using a modified Delphi process. The primary purpose of this first International Consensus Statement is to facilitate the improvement and standardization of care for children and adults with achondroplasia worldwide in order to optimize their clinical outcomes and quality of life.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Calidad de Vida / Acondroplasia Tipo de estudio: Diagnostic_studies / Guideline Aspecto: Patient_preference Límite: Humans Idioma: En Revista: Nat Rev Endocrinol Asunto de la revista: ENDOCRINOLOGIA Año: 2022 Tipo del documento: Article País de afiliación: Australia Pais de publicación: Reino Unido
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Calidad de Vida / Acondroplasia Tipo de estudio: Diagnostic_studies / Guideline Aspecto: Patient_preference Límite: Humans Idioma: En Revista: Nat Rev Endocrinol Asunto de la revista: ENDOCRINOLOGIA Año: 2022 Tipo del documento: Article País de afiliación: Australia Pais de publicación: Reino Unido