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osteogenesis imperfecta type II
osteogenesis imperfecta type II A type of osteogenesis imperfecta that features very severe bone fragility. Osteogenesis imperfecta type II is the lethal form of brittle bone disease. The disease is characterized by short-limb dwarfism, thin skin, a soft skull, unusually large fontanels (soft spots), blue sclerae (bluish whites of the eyes), small nose, low nasal bridge, inguinal hernia, and numerous bone fractures at birth. The limbs are bowed due to multiple fractures. Children with osteogenesis imperfecta type II are usually stillborn or die in early infancy. Also known as osteogenesis imperfecta congenita and Vrolik disease.