J. Horn

Section Children’s Orthopaedics and Reconstructive Surgery, Oslo University Hospital, Oslo, Norvège

2025

Résumé
Achondroplasia is the most common genetic condition causing disproportionate short stature with an incidence of 1:20 000 – 30 000 live births [1, 2]. The genetic defect in achondroplasia results in ligand-independent activation of FGFR3 with subsequent inhibition of chondrocyte proliferation and differentiation. Cartilage cells, especially in the long tubular bones in the arms and legs, the vertebrae and the skull are affected, with reduced standing height being the most striking clinical feature of the disease. The average height in adults is around 123–125 centimeters for women and 130–134 centimeters for men.

Mots clefs : orthopaedic, achondroplasia, medical
DOI : 10.34814/sofop-2025-04