osteogenesis imperfecta
348 Views

GC: n

S: MEDLP – https://medlineplus.gov/osteogenesisimperfecta.html (last access: 26 October 2019); NIH – https://www.niams.nih.gov/health-topics/osteogenesis-imperfecta (last access: 26 October 2019).

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. 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 exists.
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.

S: 1. MW – https://www.merriam-webster.com/dictionary/osteogenesis%20imperfecta (last access: 26 October 2019). 2. TERMIUM PLUS – https://bit.ly/2MPPsmM (last access: 26 October 2019). 3. NIH – https://www.niams.nih.gov/health-topics/osteogenesis-imperfecta (last access: 26 October 2019).

SYN: OI, brittle bones, fragilitas ossium.

S: TERMIUM PLUS – https://bit.ly/2MPPsmM (last access: 26 October 2019)

CR: bone disease, osteogenesis, osteology, osteoporosis, person with bone disease, scoliosis.