Searchable abstracts of presentations at key conferences on calcified tissues

ba0007p195 | (1) | ICCBH2019

Growth velocity measured by biomarker, COLX, in Achondroplasia

Hove Hanne

Objectives: Achondroplasia (ACH), caused by a mutation in the fibroblast growth factor receptor 3 gene (FGFR3), leads to inhibition of endochondral bone growth. Three potential treatments all targeting the FGFR3 on different levels of the pathway are under development. To compare the different approaches there is a need for precise measurements of efficacy. COLX and other biomarkers of bone growth are biological by-products of endochondral bone growth. A nationwide study of AC...

ba0007p194 | (1) | ICCBH2019

Skeletal dysplasia in Saul Wilson syndrome

Ljungberg Merete , Buciek Hove Hanne

Background: Since Microcephalic osteoplasic dysplasia; Saul Wilson Syndrome (SWS) was first reported by Saul and Wilson in 1990 only 14 cases have been reported worldwide. In 2018 Ferreira et al identified the pathophysiological mechanism for SWS as a recurrent De Novo Heterozygous COG4 Substitution.Objective: To describe the diagnostic process in a case of SWS.Presenting problem: The patient is the first-born child of healthy, non...