Osteogenesis imperfecta (OI) is a rare inherited disorder known as brittle bone disease, characterized by frequent fractures, skeletal deformities, blue sclera, hearing loss, low bone density, dentinogenesis imperfecta, joint hypermobility, short stature, and pulmonary complications[1][2][3]. Approximately 90% of patients have pathogenic variants in type I collagen genes (COL1A1 or COL1A2), where loss of function leads to reduced collagen production and missense variants to a dominant-negative effect with abnormal structure[1][3]. The variants cause a wide range of phenotypes from mild to lethal, with intrafamilial variability where severity can change gradually over generations[1]. Twenty variants have been identified in mild to moderate forms of OI (14 loss of function, 6 DN glycine substitutions), and 9 variants in moderate to severe forms (7 DN, 2 loss of function)[1]. In children with untreated OI, an average of 5.8 fractures per year occur, fewer after puberty but again more after menopause in females and after age 60 in males[3]. There is no cure, only symptomatic support with drugs, surgery and new biotechnologies such as gene editing or stem cells[2].