Table 1

The clinical features and mode of inheritance for all types of osteogenesis imperfecta are presented according to the classification of Sillence et al1

OI type Clinical features Inheritance
OI type I (mild)Normal or near normal stature with little or no deformityAD
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 uteroAD (new mutations)
Severe dwarfism with marked bowing and deformities of the extremitiesAR (rare)
Extreme bone fragility
OI type III (severely deforming)Progressively deforming bonesAD
Very short statureAR (uncommon)
Dentinogenesis imperfecta common
OI type IV (moderately severe)Variable short statureAD
Mild to moderate bone deformity Variable fracture rate Scoliosis/lordosis in some patients
Dentinogenesis imperfecta common
  • AD: autosomal dominant; AR: autosomal recessive.