Open Access
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 |
Current usage metrics show cumulative count of Article Views (full-text article views including HTML views, PDF and ePub downloads, according to the available data) and Abstracts Views on Vision4Press platform.
Data correspond to usage on the plateform after 2015. The current usage metrics is available 48-96 hours after online publication and is updated daily on week days.
Initial download of the metrics may take a while.