RT Journal Article
T1 International Consensus Statement on the diagnosis, multidisciplinary management and lifelong care of individuals with achondroplasia
A1 Savarirayan, Ravi
A1 Ireland, Penny
A1 Irving, Melita
A1 Thompson, Dominic
A1 Alves, Ines
A1 Baratela, Wagner A. R.
A1 Betts, James
A1 Bober, Michael B.
A1 Boero, Silvio
A1 Briddell, Jenna
A1 Campbell, Jeffrey
A1 Campeau, Philippe M.
A1 Carl-Innig, Patricia
A1 Cheung, Moira S.
A1 Cobourne, Martyn
A1 Cormier-Daire, Valerie
A1 Deladure-Molla, Muriel
A1 del Pino, Mariana
A1 Elphick, Heather
A1 Fano, Virginia
A1 Fauroux, Brigitte
A1 Gibbins, Jonathan
A1 Groves, Mari L.
A1 Hagenas, Lars
A1 Hannon, Therese
A1 Hoover-Fong, Julie
A1 Kaisermann, Morrys
A1 Leiva-Gea, Antonio
A1 Llerena, Juan
A1 Mackenzie, William
A1 Martin, Kenneth
A1 Mazzoleni, Fabio
A1 McDonnell, Sharon
A1 Meazzini, Maria Costanza
A1 Milerad, Josef
A1 Mohnike, Klaus
A1 Mortier, Geert R.
A1 Offiah, Amaka
A1 Ozono, Keiichi
A1 Phillips, John A., III
A1 Powell, Steven
A1 Prasad, Yosha
A1 Raggio, Cathleen
A1 Rosselli, Pablo
A1 Rossiter, Judith
A1 Selicorni, Angelo
A1 Sessa, Marco
A1 Theroux, Mary
A1 Thomas, Matthew
A1 Trespedi, Laura
A1 Tunkel, David
A1 Wallis, Colin
A1 Wright, Michael
A1 Yasui, Natsuo
A1 Fredwall, Svein Otto
K1 Obstructive sleep-apnea
K1 Quality-of-life
K1 Intensity intramedullary lesions
K1 Growth-hormone treatment
K1 Body-mass index
K1 Skeletal dysplasia
K1 Foramen magnum
K1 Otolaryngologic manifestations
K1 Thoracolumbar kyphosis
K1 Radiologic-diagnosis
AB 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.Achondroplasia is the most common skeletal dysplasia and is characterized by various lifelong clinical, functional and psychosocial challenges for affected individuals. This first International Consensus Statement on the care of children and adults with achondroplasia aims to facilitate the global standardization and improvement of achondroplasia clinical care.
PB Nature portfolio
SN 1759-5029
YR 2021
FD 2021-11-26
LK https://hdl.handle.net/10668/26884
UL https://hdl.handle.net/10668/26884
LA en
DS RISalud
RD Apr 12, 2025