Endocrine Abstracts

Introduction: Osteogenesis imperfecta (OI) is a genetic, heterogeneous, connective tissue disorder most commonly caused by mutations in type I collagen genes. A hallmark of disease is frequent fractures that are precipitated by minimal trauma. There are limited data on the impact of OI on non-skeletal outcomes across the lifecourse. We present cross-sectional data of one of the largest single centre patient cohorts of OI in adulthood (n=186).The aim of this study was ...