hrp0098p1-264 | Growth and Syndromes 4 | ESPE2024
Leonardi Roberta
, Rapisarda Gianvito
, Costanza Giuseppe
, Leone Guido
, Caruso Nicoletti Manuela
Background: Achondroplasia is the most common form of osteochondrodysplasia, characterized by abnormal bone and cartilage growth leading to dwarfism and short limbs. It is caused by autosomal dominant mutations in the FGFR3 gene, leading to constitutive activation of the FGFR3 receptor, inhibiting chondrocyte proliferation and disrupting normal bone growth. Vosoritide is a 39-amino acid CNP peptide analogue, indicated for treating achondroplasia in patients ov...