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Up-to date Review and Case Report
Table I
OI Sillences classification, completed by Glorieux [9].
| Type | Clinical severity | Typical features | Typically associated mutations* |
|---|---|---|---|
| I | Mild non-deforming osteogenesis imperfecta | Normal height or mild short stature; blue sclera; no dentinogenesis imperfecta | Premature stop codon in COL1A1 |
| II | Perinatal lethal | Multiple rib and long-born fractures at birth; pronounced deformities; broad long bones; low density of skull bones on radiographs; dark sclera | Glycine substitutions in COL1A1 or COL1A2 |
| III | Severely deforming | Very short; triangular face; severe scoliosis; greyish sclera; dentinogenesis imperfecta | Glycine substitutions in COL1A1 or COL1A2 |
| IV | Moderately deforming | Moderately short; mild to moderate scoliosis; grey or white sclera; dentinogenesis imperfecta. | Glycine substitutions in COL1A1 or COL1A2 |
| V | Moderately deforming | Mild to moderate short stature; dislocation of radial head; mineralized interosseous membrane; hyperplastic callus; white sclera; no dentinogenesis imperfecta | Unknown |
| VI | Moderately to severely deforming | Moderately short; scoliosis; accumulation of osteoid in bone tissue, fish-scale pattern of bone lamellation; white sclera; no dentinogenesis imperfecta | Unknown |
| VII | Moderately deforming | Mild short stature; short humeri and femora; coxa vara; white sclera; no dentinogenesis imperfecta | Unknown |
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