Osteogenesis imperfecta: The Brittle Bone Disease
Kathleen Franco
Nebraska Methodist College

Introducing OI Osteogenesis imperfecta is a genetic disorder affecting bone tissue within the human body. The disorder causes a reduced strength in the bone tissue, resulting in multiple and frequent fracturing and possible limb deformities. Osteogenesis imperfecta, also referred to as “brittle bone disease,” and abbreviated as “OI,” can come in a variety of eight types. The types range in severity from very severe to quite mild. The disorder can be fatal in some cases, and very manageable in others. (OIF) (The New York Times)
A Quick Look at OI Osteogenesis imperfecta is genetic, meaning the person affected is born …show more content…
Classic symptoms include a blue tinge in the whites of the eye (blue sclera), multiple bone fractures, and an early impacted hearing ability. More severe symptoms can include kyphosis (humpback), scoliosis (S-curvature of the back), and bowed or deformed extremities. (OIF)
Patients with this condition suffer repeated fractures, caused by the severe osteoporosis and the thin, defective cortices. The fractures often heal with exuberant callus formation… sometimes causing bizarre deformities. (Eisenberg, 2012) At the time of this writing, there is no gold-star, definitive test for OI. To aid in diagnosis, doctors look at family and medical history. The diagnosis is usually derived from a series of observed signs and number of non-traumatic fracture occurrences. DNA tests can confirm OI, but it cannot exclude it because not all types of gene mutations causing OI are known. The use of diagnostic imaging is extremely useful in aiding with diagnosis of OI, expect when OI is suspected in unborn children. It is of note that sonography can help prenatal diagnosis of one form of OI, Type II, which occurs in utero. X-rays can show a wide variety of fractures in different stages of healing and can help confirm an OI diagnosis. (OIF)(NIAMS)(NHGRI, …show more content…
With good lifestyle changes, quality care can be given to those suffering from OI. Parents with a child diagnosed with OI are taught safe-handling and positioning skills to reduce risk of hurt and harm to the child. As the child grows, maintaining a healthy weight and avoiding activities such as smoking and excessive drinking are considered beneficial practices. It is essential for an OI patient to learn how to be active while still staying safe.
Conclusion
Osteogenesis imperfecta is an inherited disorder affecting the bones of the human skeletal system. Is it a rare and currently incurable disorder, with eight types all with different degrees of severity. Because this disorder can been seen in bone, radiography is extremely helpful in aiding the diagnosis and evaluating the severity of the disorder. Though there is no cure, an OI patient can have a good prognosis, particularly if diagnosed with a milder form of the disorder. Throughout life, management of the disorder is key and can be successfully achieved through careful lifestyle changes, safe mobility practice,s and physical activities. As time goes on, more successful treatment options may become available. Many OI patients are able to have long, happy, and fulfilling lives. There is always the hope that one day Osteogenesis imperfect will become a disorder with a