What is osteogenesis imperfecta (OI)? OI, formally known as Brittle Bone Syndrome, is a genetic bone disorder that affects the body’s ability to make bones strong which causes the bones to fracture easily, often without any apparent cause. OI affects the collagen in your body which not only makes your bones strong, but also helps the rest of your body stay strong as well. There are 8 different types of OI and all of them differ in range of severity. Type 1 OI is the most common and the mildest form of the 8. OI Type 2 is the most severe. OI can even vary greatly between individuals of the same family (“Osteogenesis Imperfecta,”n.d.). Most cases of OI are caused by a dominant genetic defect. This means that only one copy of the mutation is necessary …show more content…
Type 3 OI is often present at birth with fractures being prominent and healed fractures may be revealed by x-ray that occurred before birth. This type of OI is progressive with age and may require the individual to have a wheelchair. This is a result of malformation in the area between the occipital bone and where the top of the spine meet. With type 3 OI the individual still has the characteristics of having a short stature, blue, purple or gray tint sclera, loose joints and poor muscle development in the longer extremities, triangular face, curvature spine and respiratory problems. The one difference in this type of OI is that the individual has a barrel-shaped rib cage. Hearing loss and brittle teeth is still possible with this type of OI. As stated before, Type 4 OI is between the severity of type 1 and 2. One of the differences with this type is the sclera is of normal color and the individual will have mild to moderate bone deformity. With this type you will have a shorter than average stature along with the same symptoms in type 3 (“Fast Facts,”n.d.). There are some unclassified types of OI that researchers are still studying. “By studying the appearance of OI bone under the microscope, investigators noticed that some people who are clinically within the Type IV group had a distinct pattern to their bone. When they reviewed the full medical history of these people, …show more content…
Treatments for OI are individualized and dependent upon the severity of the disease and age of the patient being treated. There is a team of healthcare providers that provide this treatment for OI including several types of doctors, physical therapist, a nurse clinician and a social worker. There are 3 types of nonsurgical treatments, medication being one of them. Medical bisphosphonates are given to the child either by mouth of IV. This helps slow down resorption of the bone and in more severe cases, it helps reduce the number of fractures and helps with pain. Another type of nonsurgical treatment is immobilization, this includes casts, braces and splints to keep the bones still and in line in order to heal correctly. The last nonsurgical treatment is exercise. After a child receives a fracture, it is encouraged to get them up and weight bearing as soon as the bone is healed. Certain exercises will increase mobility and reduce risk of fractures
This condition is diagnosed based on a physical exam and your medical history. You may have X-rays to check for breaks (fractures) in your bones.
The symptoms of OI include malformed bones, short, small body, loose joints, muscle weakness, sclera (whites of the eyes) look purple, grey or blue, triangular face, barrel-shaped rib cage, curved spine, brittle teeth, breathing problems and a collagen deficiency.
More information is required, such as dates for all occurrences and personal medical history, allowing better insight, to possible secondary causes of osteoporosis (OP).
2). In addition, this disease causes death, short stature, blindness, and hearing loss. “Seventy percent of children with malignant infantile osteoporosis die by the age of six years, and almost 100 percent do not live to the age of 10 years” (Stocks et al., p. 2). The main cause of death is bone marrow failure, due to non-functioning osteoclasts. Some children will also have delays in muscle coordination, nerve compression, low levels of iron, crossed eyes, tooth decay, abnormal hardening of the bones, and fractures. (“Osteopetrosis,” 2008).
It is similar to Type IV in terms of frequency of fractures and the degree of skeletal deformity
These types of treatments can be very successful for one with a not so severe case of Osteogenesis Imperfecta, however someone with a more severe case may find it difficult to treat the disease. According to Medline Plus, Type I Osteogenesis Imperfecta is the mildest type and it is easiest to live with (Osteogenesis). Treatments such as physical therapy and bisphosphonates will help treat this type, and one with this type will have a normal life expectancy. Type II is the most severe case. “With Type II Osteogenesis Imperfecta a child will most likely die within the first year of being born” (Osteogenesis). Type III is more severe than Type I, many fractures
This patient is most likely presented with osteogenesis imperfecta. This disease is characterized by a group of genetic disorders that mainly affect the bones, in which the patients have their bones break easily resulting either from mild trauma or no apparent cause. Multiple fractures are commonly seen, and in severe cases, can occur even before birth. In milder cases only a few fractures may be seen. There are several types of OI, at least eight recognized forms of osteogenesis imperfecta, from type I through type VIII. They can be distinguished by their signs and symptoms, although their characteristic features may overlap (Greeley, et al., 2013). This patient apparently has the severe forms of osteogenesis imperfecta, including type I, which are characterized by bone fractures during childhood that often result frequent bone fractures from little or minor trauma. This child presented with a blue or grey tint to the part of the eye that is usually white,
Breaking a bone is an injury that some people experience maybe once or a few times throughout their life, but for the people who are diagnosed with osteogenesis imperfecta, their lives are very different. Osteogenesis imperfecta (OI), otherwise known as brittle bone disease, is a genetic disorder that causes bones to break very easily with little to no apparent trauma. Dealing with broken bones often becomes the norm for people who are diagnosed with this condition. The severity between different types of OI can range from mild to very severe, causing death before or shortly after birth. Although OI is rare, the people diagnosed often have other associated health problems with their joints, skeletal structure, and dental health.1 OI affects
Osteoporosis is not just an adult’s disease; there is such a thing as juvenile osteoporosis. It’s most common in children ages 8-14, but can hit younger children going through growth spurts, as well. There are two types of juvenile osteoporosis: secondary and idiopathic. Secondary osteoporosis can be caused by a variety of other medical conditions, such as diabetes, celiac disease, kidney disease, leukemia, and cystic fibrosis. Idiopathic osteoporosis is far rarer and there is no known cause.
1…2…breathe. 1…2…breathe. As I stare at neon ropes, I become completely disconnected from everything around me. Osteogenesis Imperfecta. These two foreign words were the essence of why I was currently treating a jump rope test as seriously as the first landing on the moon.
Bisphosphonates are drugs that have been used to treat osteoporosis. They have proven to be very valuable in the treatment of OI symptoms, particularly in children. These drugs can increase the strength and density of bone in persons with OI. They have been shown to greatly reduce bone pain and fracture rate (especially in the bones of the spine).
Osteoarthritis of the spine generally happens in people as they get older. Our bones are always growing and changing throughout our lives. When we are in 20’s bone density is when it is most significant, and as life goes on we lose bone mass in different aspects. This disease is common in men under 45 years of age and in women over 45 years of age. I believe that all types of osteoporosis are caused by lack of calcium and vitamin D in our bodies.
Osteopenia is a disease in which the bone density in a person is lower than normal but not so low to where they would be considered to have osteoporosis. To tell the difference between these similar disease you would have to speak with your doctor and schedule a bone density test. By measuring your bone density you will see how dense and how strong your bones are with having osteopenia over time the bones in the body will grow weak and be more prone to breaking as well with the lowering of bone density with having osteopenia it will develop into osteoporosis over time due to the low bone density. The causes of osteopenia are natural in everyone. As we get older are bones start to lose density around are middle aged years they start to become
The most common type of scoliosis is idiopathic scoliosis, which can often be found in adolescents to start. When a subject is
Type-1 (Fig. 7a) constituted 10% of the total number 24% of the left side and 15% of the right, type-2 (Fig. 7b) was found in 39%, type-3 (Fig. 7c) was present in 43%,Type-4 (Fig. 7d) was seen in 5% and Type-5 (Fig. 7e) was encountered in 3% of the studied bones .