osteogenesis imperfecta

Osteogenesis Imperfecta

Incidence

 

Spinal deformities are found in 20% to 80% of patients with OI

 

Risk factors

 

Severe disease with nonambulatory status

 

Progression

 

Scoliosis in OI may progress after skeletal maturity 

- may be related to weakened osteoporotic bone 

 

Management

 

Non operative

 

Bracing

 

Poor results

Osteogenesis Imperfecta

Defect

 

Abnormality of type 1 collagen

- amino acid substitution of glycine with another amino acid

- prevents triple helix formation

 

Many many deformities described

- some 286 mutations of Type 1 collagen described

 

Sillence Classification

 

There are actually now 7 

 

Type I

- mild

- AD

- blue sclera