hrp0098fc2.6 | Bone, Growth Plate and Mineral Metabolism | ESPE2024
Mohnike Klaus
, Eibenstein Ursula
, Pimenta Jeanne
, Reichert Anja
, Mukherjee Swati
, Gausche Ruth
, Beger Christoph
, Pfäffle Roland
Background: CrescNet is a European pseudonymous paediatric registry of longitudinal measurements used to screen for growth disorders including achondroplasia (ACH). ACH is a rare genetic condition caused by a gain-of-function variant in the fibroblast growth factor receptor 3 (FGFR3) gene, resulting in severe disproportionate short stature and medical complications related to impaired endochondral bone growth. Vosoritide (C-type natriuretic peptide analogue) i...