Sheeza Basharatalmost 2 years ago

Osteogenesis Imperfecta

Osteogenesis imperfecta is a hereditary disorder that disrupts the proper formation of bones and makes bones abnormally fragile. Osteogenesis imperfecta is the best known disorder of a group of disorders that disturb bone growth. These disorders are called osteodysplasias. In osteogenesis imperfecta, synthesis of collagen, one of the normal components of bone, is impaired. The bones become weak and break (fracture) easily. There are 4 main types of osteogenesis imperfecta. Type I osteogenesis imperfecta is the mildest type. Some children may have only symptoms of blue sclerae and muscle and joint pain caused by loose joints. Children with this type may have increased risk of fractures during childhood. Type II osteogenesis imperfecta is the most severe type and causes death. Infants are usually born with many broken bones. The skull may be so soft that the brain is not protected from pressure applied to the head during childbirth. These infants have shortened arms and legs and blue sclerae. Infants with this type can die before childbirth or within the first few days or weeks of life. Type III osteogenesis imperfecta is the most severe type that does not cause death. Children with this type are very short and have curving of the spine and frequent fractures. This type causes bones to often break after very minor injuries, usually when children begin to walk. These children also have a large skull and a triangular face shape caused by overdevelopment of the head and underdevelopment of the face bones. Chest deformities are common. The color of the sclerae varies. Type IV osteogenesis imperfecta is a moderate type. Children with this type have bones that fracture easily during childhood before puberty. The sclerae are typically white. Children are short. Children with this type may benefit from treatment.