Taking a Look at Brittle Bones Disease

Introduction Osteogenesis insufficiency, also known as "brittle bone disease", is a rare inherited disorder affecting body type I collagen, which is the main protein of human connective tissue. Normally, people with OI or type I collagen are too little or poor quality. Collagen deficiency accounts for about 85% 1. However, proteins in bone may be affected by some less common form of OI. Due to this defect, people with OI are very fragile and may easily burst without obvious cause.

Type 1 OI is the mildest and most common fragile bone disease. With this type of fragile bone disease, your body creates high quality collagen, but not enough. This leads to somewhat fragile bone. Children with type 1 OI usually develop fractures due to minor trauma. This type of fracture is less common in adults. There is also an effect on the tooth, cracks and caries may occur in the tooth. Type 2 OI is the most severe and fragile bone disease and can be life-threatening. In Type 2 OI, your body produces insufficient collagen or produces poor quality collagen. Type 2 OI can cause skeletal anomalies. If your child was born in type 2 OI, their breasts may become narrower, their ribs may fracture or deform, or their lungs are underdeveloped. Infants of type 2 OI may die within the womb or shortly after birth.

Type 3 OI is also a severe and brittle bone disease. The bone breaks easily. In Type 3 OI, your child's body produces enough collagen, but the quality is bad. Your child's bones may even burst before birth. Skeletal malformations are common and may get worse as your child gets older. Your doctor can diagnose brittle bone disease by X - ray. X - ray photos allow your doctor to see current and past fractures. They also make bone defects more visible. Laboratory tests can be used to analyze the structure of collagen in children. In some cases, your doctor may want to take a skin biopsy. During this biopsy, the doctor uses a sharp hollow tube to remove a small sample of your tissue.

Osteogenesis imperfecta (OI) is a disease that causes bones to break easily. It is called fragile bone disease. Sometimes bones break down because they do not know. OI may cause many other problems such as weakness of the muscles, weakness of the teeth, hearing loss and so on. In the United States, about 20,000 to 50,000 people suffer from OI