Table 1

Sillence classification for clinical types of OI

OI Type Clinical feature Inheritance
I “Mild”Normal stature, little or no deformity, blue sclera, hearing loss in 50%, dentinogenesis imperfecta is rareAD
II “Lethal”Lethal in the perinatal period, minimal calverial mineralisation, beaded ribs, multiple fractures at birth, marked long bone deformities, platyspondylyAD (new) AR (rare)
III “Severe” Short stature, progressive deforming bones, wheel chair bound by adult life, scleral color varied — bluish gray or white — often lightens with age, dentinogenesis imperfecta and hearing loss commonAD AR (rare)
IV “Moderate” Normal sclera, mild to moderate bony deformity, variable short stature, dentinogenesis imperfecta and hearing loss commonAD
  • AD = autosomal dominant, AR = autosomal recessive.