What is type II osteogenesis imperfecta (OI)?

Type II osteogenesis imperfecta (OI), the most severe form, can be deadly. Most type II OI patients are stillborn or die shortly after birth due to respiratory problems. Type II OI usually happens due to spontaneous gene mutation. Newborns generally have a low birth weight, fractures and bone deformities and underdeveloped lungs.

Type II OI patients tend to be short, have poor dental development and have barrel-shaped ribcages. Additionally, they experience many symptoms associated with type I, including loose joints, colored sclera, triangular faces, poor muscle development and hearing loss. These people also live with bone deformities that worsen progressively with age. Respiratory problems also are possible, as are deformities.