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Title: Osteogenesis imperfecta: wide range of presentation
Authors: Arjun, Batish
Avilova, Olga
Keywords: osteogenesis
Osteogenesis Imperfecta
Brittle Bone Disease
Issue Date: 20-Jan-2020
Publisher: KNMU
Citation: Arjun Batish. Osteogenesis imperfecta: wide range of presentation / Arjun Batish, O. Avilova // Медицина третього тисячоліття : збірник тез міжвузівської конференції молодих вчених та студентів, Харків, 20–22 січня 2020 р. / Харківський національний медичний університет. – Харків, 2020. – С. 4–5.
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.
Appears in Collections:Наукові роботи молодих вчених. Кафедра анатомії людини

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