All::Rheumatology::Diseases::Osteogenesis imperfecta
Intro
What is the more common and milder form of osteogenesis imperfecta?
Type 1.
How is osteogenesis imperfecta inherited?
Autosomal dominant.
What is the underlying abnormality in type 1 collagen in osteogenesis imperfecta?
Decreased synthesis of pro-alpha 1 or pro-alpha 2 collagen polypeptides.
When does osteogenesis imperfecta typically present?
In childhood.
What is a characteristic feature of osteogenesis imperfecta related to fractures?
Fractures following minor trauma.
Name some clinical features associated with osteogenesis imperfecta.
Blue sclera, deafness secondary to otosclerosis, and common dental imperfections.
Are the results of adjusted calcium, phosphate, parathyroid hormone, and ALP usually normal in osteogenesis imperfecta?
Yes, they are usually normal.