| Osteogenesis Imperfecta (OI) is a genetic disorder | | | | in order for OI to be passed to their children. Often |
| that affects the production of a protein called | | | | OI is the result of a new genetic mutation; in other |
| collagen. Collagen is one of the main proteins in bone | | | | words, it just "happens". This is true in about 35% of |
| and is what gives bone its strength. | | | | cases. |
| Symptoms of OI | | | | How OI is diagnosed |
| Children born with OI may suffer fractures while still | | | | Mild OI often goes undetected and undiagnosed. |
| in the womb, during delivery, or they may suffer | | | | When OI is suspected, usually because of a history |
| their first fracture soon after birth. Fractures of | | | | of frequent fractures, physicians look for other |
| bones may occur with normal handling. Fractures may | | | | associated symptoms such as those mentioned |
| not be identified right away, and are sometimes | | | | previously. The child may be seen by a geneticist or |
| discovered later in the child's life when x-rays are | | | | a doctor knowledgeable in diagnosing OI. Blood tests |
| done for a different reason. | | | | and skin biopsies can now be done to assure the |
| Fractures in OI are unpredictable. For example, | | | | diagnosis. Some patients with OI have extra small |
| fractures that might be expected to occur from an | | | | bones in their skull along suture lines, where the |
| injury often don't, and fractures that do occur can | | | | different sections of the skull come together. These |
| happen under the mildest of circumstances. The good | | | | bones are called wormian bones, and can help make |
| news is that rates of fractures often decrease with | | | | the diagnosis of OI. |
| age. | | | | How OI is treated |
| There are other signs and symptoms that doctors | | | | At present, there is no cure for OI. Treatment of OI |
| may look for that also may occur as a result of the | | | | is symptomatic and supportive. Fractures, if they |
| collagen defect in OI: | | | | occur, should be monitored carefully to ensure proper |
| - Lax (loose) joints and muscle weakness | | | | healing. Surgery is sometimes done to stabilize bones. |
| - Blue or grey discoloration of the white part of the | | | | Occupational therapy can be used to teach parents |
| eye (sclera) | | | | how to handle their child so as not to injure them |
| - Teeth that break easily and may be discoloured | | | | inadvertently. Children with OI may be prescribed |
| - A tendency towards bruising | | | | braces to support their limbs as needed. Hearing |
| - Hernias | | | | should be monitored frequently in children diagnosed |
| - Heat intolerance and excessive sweating | | | | with OI, as deafness and hearing loss can occur if |
| - Scoliosis (curvature of the spine) and other curved | | | | small bones in the middle ear break. Medications to |
| bones | | | | strengthen bones may be prescribed. |
| - Breathing issues (in severe cases) | | | | Advances in knowledge of OI allow children with OI |
| - Deafness or hearing loss | | | | to lead fuller lives. Prompt diagnosis is important, as |
| How OI happens | | | | the earlier children are diagnosed, the sooner |
| OI can be passed down in families from one | | | | measures to protect them from fractures can begin. |
| generation to the next in a recessive fashion. This | | | | If you suspect your child may have OI, see your |
| means that only one parent needs to carry the gene | | | | physician. |