expandable telescopic IM rods

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