MRCP revision battle 49.7: Osteogenesis Imperfecta

Osteogenesis Imperfecta is an autosomal dominant inherited condition in which there is abnormal and or insufficient type 1 collagen synthesis.


This results in:

• bone fractures
• blue sclerea
• deafness secondary to otosclerosis
• muscle weakness

The photo below demonstrates the classical blue sclera  (from wiki commons, posted by Dr Fred)

There is no cure, so treatment is trying to prevent bone fractures.