Lifetime impact of achondroplasia: Current evidence and perspectives on the natural history
Julie Hoover-Fong, Moira S Cheung, Virginia Fano, Lars Hagenas, Jacqueline T Hecht, Penny Ireland, Melita Irving, Klaus Mohnike, Amaka C Offiah, Ericka Okenfuss, Keiichi Ozono, Cathleen Raggio, Louise Tofts, Dominique Kelly, Renee Shediac, Wayne Pan, Ravi Savarirayan
Bone | ELSEVIER SCIENCE INC | Published : 2021
Achondroplasia, the most common form of disproportionate short stature, is caused by a variant in the fibroblast growth factor receptor 3 (FGFR3) gene. Advances in drug treatment for achondroplasia have underscored the need to better understand the natural history of this condition. This article provides a critical review and discussion of the natural history of achondroplasia based on current literature evidence and the perspectives of clinicians with extensive knowledge and practical experience in managing individuals with this diagnosis. This review draws evidence from recent and ongoing longitudinal natural history studies, supplemented with relevant cross-sectional studies where longitu..View full abstract
Funding for this work was provided by BioMarin Pharmaceutical, Inc.