摘要
Osteogenesis imperfecta (01), also known as brittle bone disease or Lobstein syndrome, is characterized by blue or gray sclerae, variable short stature, dentinogenesis imperfecta, hearing loss, and recurrent fractures. Based on clinical, genetic, and radiological features, Sillence et al. classified the OI into four subtypes including type I: Mild, common, with blue sclera; type Ⅱ: Perinatal lethal form; type Ⅲ: Severe and age-related progressive detbrmity, with normal sclera; and type Ⅳ: Moderate severity with normal sclera.
Osteogenesis imperfecta (01), also known as brittle bone disease or Lobstein syndrome, is characterized by blue or gray sclerae, variable short stature, dentinogenesis imperfecta, hearing loss, and recurrent fractures. Based on clinical, genetic, and radiological features, Sillence et al. classified the OI into four subtypes including type I: Mild, common, with blue sclera; type Ⅱ: Perinatal lethal form; type Ⅲ: Severe and age-related progressive detbrmity, with normal sclera; and type Ⅳ: Moderate severity with normal sclera.