Three-dimensional craniofacial imaging in children with achondroplasia treated with vosoritide.

ABSTRACT:

Purpose

Achondroplasia is the most common form of disproportionate short-stature skeletal dysplasia. Constitutively activated FGFR3 signaling disrupts endochondral ossification, affecting long bone growth, as well as the craniofacial skeleton and skull base. This results in the distinctive craniofacial features of achondroplasia, such as midface hypoplasia and nasal bridge depression. Vosoritide is a precision medicine that acts through the C-type natriuretic peptide pathway to counteract overactive FGFR3 signaling, including its inhibitory effects on chondrocyte differentiation and proliferation. The aim of this study was to investigate the potential effects of vosoritide treatment on the craniofacial skeleton in achondroplasia.

Methods

We used longitudinal 3D facial surfac

SUBMITTER: Hoskens H 

PROVIDER: S-EPMC12670446 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature