Table 2: Silence classification of osteogenesis imperfecta.

TypeInheritanceGene(s)Phenotype

OI Type IADCOL1A1Fractures, osteopenia, blue sclerae, severe hearing loss, dentinogenesis imperfecta in some
OI Type IIADCOl1A1,
COL1A2
Multiple fractures, severe osteopenia and bone deformation, short stature, blue sclerae
OI Type IIIAD/ARCOl1A1,
COL1A2
Triangular face, severe scoliosis, fractures, osteopenia and bone deformities, short stature, bleu sclerae, hearing loss, dentinogenesis imperfecta in some
OI Type IVADCOl1A1,
COL1A2
Fractures, osteopenia and bone deformities, hearing impairment, dentinogenesis imperfecta, short stature in some
OI Type VADUnknownFractures, osteopenia and bone deformities, hearing impairment, dentinogenesis imperfecta, short stature in some, often luxation of head of radial bone
OI Type VI?FKBP10Multiple fractures, osteopenia and bone deformities, hearing impairment, short stature in some, accumulation of osteoid in bone
OI Type VIIARCRTAPMultiple fractures, osteopenia and bone deformation, blue sclerae, rhizomelia, coxa vara
OI Type VIIIARLEPRE1Multiple fractures, severe osteopenia and bone deformation, short stature, blue sclerae in some

AD: autosomal dominant; AR: autosomal recessive. Characteristics which may be of value in discriminating the subtypes are marked in italics.