Case Report: Pediatric osteogenesis imperfecta type 1: a pedigree report and literature review
Osteogenesis imperfecta (OI), also known as “brittle bone disease,” is a congenital disorder typically inherited in an autosomal dominant manner. It is a rare genetic disease caused by abnormal mesodermal development leading to defective collagen formation due to variants in various genes. OI is a hereditary connective...