Bone Abstracts

Osteogenesis Imperfecta (OI) is a brittle bone disease, characterized with reduced bone mass and bone fragility of different severity due to collagen type I defects. Patients suffer from recurrent spontaneous fractures starting in the early childhood or before birth.The main aim of the study was to relate time of the first fracture with COL1A1/2 mutations causing OI.Total number of 167 unrelated OI patients from the Osteog...

Osteogenesis Imperfecta (OI) is a rare congenital disorder of bone fragility. Majority of OI cases are caused by loss of function or missense pathogenic variants in the COL1A1/2 genes. In addition to fractures, patients suffer from different, mainly long bone, skeletal deformities. OI patients might develop chest deformities (pectus carinatum (PC) or excavatum (PE)) of different severity, which can tend to formation of cardiopulmonary complications. The main aim of current stu...