osteogenesis imperfecta - Humanterm UEM

GC: n

N: 1. First Known Use of osteogenesis imperfecta: 1899.
History and Etymology for osteogenesis imperfecta: New Latin, imperfect osteogenesis.

A hereditary disease caused by defective or deficient collagen production and marked by extreme brittleness of the long bones and a bluish color of the whites of the eyes — called also brittle bone disease, brittle bones.
Abbreviation: OI.

2. Bones and Joints: osteogenesis imperfecta, OI, brittle bones, fragilitas ossium.

A condition of abnormal fragility and plasticity of bone, with recurring fractures on minimal trauma, deformity of long bones, usually bluish color of sclerae, and in many cases, the development of otosclerosis; there is extreme variation in severity and clinical findings; inheritance is autosomal dominant in most families, but a rare autosomal recessive type also exist.

3. Points To Remember About Osteogenesis Imperfecta (OI):

Osteogenesis imperfecta (OI) is a disease that causes your bones to break easily. OI is also called brittle bone disease.
Symptoms may be mild or severe, depending on the type of OI you have.
OI is caused by a gene that doesn’t work correctly. There is no cure for OI.
Treatment can include physical or occupational therapy, medications, surgery, and aids to help you move around safely.
You can do things to help you stay healthy and prevent broken bones.

SYN: OI, brittle bones, fragilitas ossium. (depending on context)