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Osteogenesis imperfecta (OI), also known as "brittle bone disease", is a genetic disorder that affects the production of collagen, a principal element in connective tissue and bone. These individuals easily sustain fractures, even without trauma. There are various types of OI, so symptoms can vary. In most cases, the disease is caused by a mutation in the gene coding for type I collagen.
OI can cause fragile bones, short stature, delays in growth, deformities of the spinal column and other bones, blue sclera, hearing loss, and problems with the formation of the teeth (dentinogenesis imperfecta). In its most severe form, babies die shortly after birth. There are mild forms that can manifest with premature osteoporosis.
It is a very infrequent disease and is considered rare. The estimated incidence of OI is
approximately 1 out of every 10,000-20,000 births, but we must keep in mind that the milder forms may not be diagnosed.
If a patient presents symptoms like those mentioned above, leading to the suspicion that they may have this disease, a genetic study must be carried out.
It requires a multidisciplinary approach. Treatment aims to improve the impact on quality of life and prevent complications. Physical therapy, occupational therapy, detecting and treating dental and respiratory problems, dealing with hearing loss, and surgery to correct deformities are very important. Pharmacological treatment is carried out using widely employed osteoporosis drugs.
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