Health Dictionary
Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.
Osteogenesis imperfecta overview
Introduction
Overview
Overview
Osteogenesis imperfecta is a genetic bone disorder. People with OI are born without the proper protein (collagen), or the ability to make it, usually because of a deficiency of Type-I collagen.[1] People with OI either have less collagen than normal or the quality is poorer than normal. As collagen is an important protein in bone structure, this impairment causes those with the condition to have weak or fragile bones.[2]
References
References
- ↑ Rauch F, Glorieux FH (2004). “Osteogenesis imperfecta”. Lancet. 363 (9418): 1377–85. PMID 15110498.
- ↑ “Osteogenesis Imperfecta Foundation: Fast Facts”. Retrieved 2007-07-05.
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]