hrp0094p1-55 | Bone B | ESPE2021

Premature epiphyseal fusion induced by a retinoic acid agonist in a young girl with fibrodysplasia ossificans progressiva

Hallgrimsdottir Sigrun , Nilsson Ola ,

Retinoic acid receptor agonists can have dramatic negative effects on growth and even induce premature growth cessation and epiphyseal fusion (1, 2). An 11 5/12-year-old, prepubertal girl with fibrodysplasia ossificans progressiva presented in our pediatric skeletal disorders clinic with the concern of early growth cessation. She had participated in a clinical trial of Palovarotene (“MOVE”, NCT03312634), a retinoic acid receptor-gamma agonist, since the age of 9 10/1...

hrp0094p2-71 | Bone, growth plate and mineral metabolism | ESPE2021

Premature epiphyseal fusion induced by Palovarotene in a young girl with fibrodysplasia ossificans progressiva

Hallgrimsdottir Sigrun , Nilsson Ola ,

Retinoic acid receptor agonists can have dramatic negative effects on growth and even induce premature growth cessation and epiphyseal fusion (1, 2). An 11 5/12-year-old, prepubertal girl with fibrodysplasia ossificans progressiva presented in our pediatric skeletal disorders clinic with the concern of early growth cessation. She had participated in a clinical trial of Palovarotene (“MOVE”, NCT03312634), a retinoic acid receptor-gamma agonist, since the age of 9 10/1...

hrp0089p1-p173 | Growth & Syndromes P1 | ESPE2018

Clinical and Radiological Manifestations in a Large Swedish Family with a Pathogenic Heterozygous ACAN Variant

Gkourogianni Alexandra , 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...