Osteogenesis Imperfecta (OI) is a group of inherited conditions characterised by fragile bones and fractures that arise spontaneously or after minimal trauma. It is also associated with weak teeth due to poor dentine, blue sclerae (a bluish tint to the whites of the eyes), kyphosis (forward curvature) and scoliosis (sideways curvature) of the spine, easy bruising and bleeding, hypermobility, weak muscles, and progressive hearing loss. Bone deformities may lead to chronic pain.
A person is born with this disorder and is affected throughout their life. Males, females and all racial groups are affected equally. Over all OI is rare, being found in about 6 per 100,000 people; which means there are likely 3,000-4,000 people in the UK with the condition. The term ‘brittle bone disease’ is often used to describe OI. The reader should be aware that the same term is used when writing about the condition osteoporosis. Both conditions are associated with fractures but osteoporosis is a very different disorder that is very common, and is not an HDCT. Readers who enjoy film may recall ‘Unbreakable’ starring Samuel L. Jackson as Elijah Price (nicknamed Mr Glass), or the character Raymond Dufayel in the French film Amelie; both characters had OI. For a very real insight in to living with and coping with the condition, many hundreds of thousands of people have watched the inspirational YouTube presentations by Robbie (a.k.a ‘Kid President’).
Individuals with OI are born with the condition. The clinical features range from mild to severe to, sadly, lethal, but for the majority of cases the milder features are the most common and the greatest concern is the increased risk of fractures. Much can be done to support OI. Despite the challenges for some individuals and families, most children and adults lead productive and as normal a life as possible: school, friendships, careers, relationships, families, and participate in non / low contact sports and other recreational activities.
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A summary of the classification of OI, clinical findings, and genetics.
The management and treatment of osteogenesis imperfecta