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