OI type | Clinical features | Inheritance | ||
OI type I (mild) | Normal or near normal stature with little or no deformity | AD | ||
Variable number of fractures | ||||
Distinctly blue sclerae throughout life | ||||
Hearing loss in about 50% of cases | ||||
OI type II (lethal) | Lethal in perinatal period or in utero | AD (new mutations) | ||
Severe dwarfism with marked bowing and deformities of the extremities | AR (rare) | |||
Extreme bone fragility | ||||
OI type III (severely deforming) | Progressively deforming bones | AD | ||
Very short stature | AR (uncommon) | |||
Dentinogenesis imperfecta common | ||||
OI type IV (moderately severe) | Variable short stature | AD | ||
Mild to moderate bone deformity Variable fracture rate Scoliosis/lordosis in some patients | ||||
Dentinogenesis imperfecta common |
AD: autosomal dominant; AR: autosomal recessive.