Osteogenesis imperfecta: wide range of presentation

Abstract

Introduction. Osteogenesis Imperfecta (OI) also known as Brittle Bone Disease is a group of genetic disorders that mainly affects bone. The inheritance commonly follows autosomal dominant pattern or via a new mutation. In 17th century it was called congenital osteomalacia. Prevalence is one in every 15000 live births. There may be in utero death, perinatal death or adult patient can present with complications like cervical artery dissection and aortic dissection. Lack of Type 1 collagen is main underlying pathology. This occurs in more than 90% of cases due to mutations in the COL1A1 or COL1A2 genes. It is classified into eight types based on differences in clinical presentation, bone architecture and diagnosis is based on clinical picture and DNA testing. The newer forms of OI are not associated with type 1 collagen gene defect. Aim of the research. To study history, etiology, pathogenesis, manifestation of OI in relation with collagen: Rare Genetic Disoder.