Bone reports
Fracture characteristics and outcomes in osteogenesis imperfecta: A systematic review
By Seefried L, Bou R, Bubbear J and 7 others.
Abstract
Objectives
Osteogenesis imperfecta (OI) is a rare genetic disorder marked by bone fragility and increased fracture risk, adversely affecting quality of life (QoL). The overall fracture burden remains incompletely defined. This systematic review synthesised evidence on fracture characteristics (onset, frequency, anatomical location, risk factors) and outcomes (healing time and downstream signs, symptoms, and events [SSEs]).
Methods
We sought English-language cohort studies, patient surveys, and trials enrolling ≥10 individuals with OI, reporting fracture characteristics and fracture outcomes, published in or after 2000. We searched MEDLINE, Embase, Cochrane CENTRAL, PsycINFO, ClinicalTrials.gov, ICTRP, and CPCIS-S through March 15, 2024 and relevant congresses through December 31, 2024. Outcomes were qualitatively synthesised.