Osteogenesis imperfecta (OI) causes bones to be fragile and easily broken and is also responsible for other health problems.
Type I OI is the mildest form of the condition. People who have type I OI have bone fractures during childhood and adolescence often due to minor trauma When these individuals reach adulthood they have fewer fractures.
Type II OI is the most severe form of OI. Infants with type II have bones that appear bent or crumpled and fractured before birth. Their chest is narrow and they have fractured and misshapen ribs and underdeveloped lungs. These infants have short, bowed arms and legs; hips that turn outward; and unusually soft skull bones. Most infants with type II OI are stillborn or die shortly after birth, usually from breathing failure.
Type III OI also has relatively severe signs and symptoms. Infants with OI type III have very soft and fragile bones that may begin to fracture before birth or in early infancy. Some infants have rib fractures that can cause life-threatening problems with breathing. Bone abnormalities tend to get worse over time and often interfere with the ability to walk.
Type IV OI is the most variable form OI. Symptoms of OI type IV can range from mild to severe. About 25 percent of infants with OI type IV are born with bone fractures. Others may not have broken bones until later in childhood or adulthood. Infants with OI type IV have leg bones that are bowed at birth, but bowing usually lessens as they get older.
Some types of OI are also associated with progressive hearing loss, a blue or grey tint to the part of the eye that is usually white (the sclera), teeth problems (dentinogenesis imperfecta), abnormal curvature of the spine (scoliosis) and loose joints. People with this condition may have other bone abnormalities and are often shorter in stature than average.
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