hrp0089p1-p173 | Growth & Syndromes P1 | ESPE2018
, Segerlund Emma
, Hallgrimsdottir Sigrun
, Nilsson Ola
, Stattin Eva-Lena
Objectives: Heterozygous mutations in the aggrecan gene (ACAN) are associated with idiopathic short stature, with or without advanced bone age (BA), osteochondritis dissecans (OCD) and early onset of severe osteoarthritis (OA). Variable features also include midface hypoplasia, brachydactyly, short thumbs and intervertebral disc degenerative disease.Methods: We reviewed 173 radiographs in 22 individuals (8F:14M), (three shoulders, 10 hands, 10 w...