hrp0097p1-522 | Growth and Syndromes | ESPE2023
, Deyanova Yana
, Stoyanova Milena
, Hachmeriyan Mari
Introduction: Aggrecan, encoded by the ACAN gene, is an important component in the cartilage extracellular matrix. Mutations in the ACAN gene have been associated with idiopathic and familial short stature in the recent years. Bone age (BA) is often advanced, although it can be delayed or normal. Patients can have dysmorphic features like broad forehead, midfacial hypoplasia, prognathism, posteriorly rotated ears, broad and short thumbs. Bone and joint problem...