Signs Of Osteogensis Imperfecta

Bone Deformities

Bone deformity is common enough that the name of the disease, osteogenesis imperfecta, literally means 'an imperfectly formed bone.' The type and severity of bone deformity vary depending on the individual and the type of OI they have.

Type I is the mildest and most common type of OI. Most Type I patients don't present with bone deformity because their collagen is structured correctly. Type II is the most severe and life-threatening form, where collagen cannot form at all. A fetus' bones might break before they are even born. Many infants have bone deformity so severe they don't survive long after birth.

Type III has collagen that doesn't form properly, which often causes severe bone deformities. Infants are usually born with fractures. Type III osteogenesis imperfecta typically presents with spinal deformities and growth issues. Type IV is a moderately severe form and involves improperly formed collagen. Bone deformities are not as common as in Type III, instead ranging from moderate to mild.

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