Osteogenesis Imperfecta ( Oi ) Is An Inherited Disorder Characterized By Extreme Fragility Of The Bones

Osteogenesis Imperfecta is a rare genetic disorder caused by a gene mutation in which bones break easily, often with no particular cause. OI can cause extreme pain and discomfort. There are several types of this disorder ranging in severity. The population affected by this disease ranges by type from one in every sixty thousand to one in every thirty-thousand.

Osteoporosis is a progressive bone disease that is characterized by structural deterioration of bone tissue and reduced bone mineral density(BMD). Consequences include increased pain, increased risk of fracture, loss of mobility, and death (Osteoporosis Canada 2014).

There are different laboratory tests that can be ran by doctors that helps in diagnosing osteoporosis. These tests are run with samples of blood and urine from the patient. Some of the tests are blood calcium levels, 24-hour urine calcium measurement, thyroid function tests, parathyroid hormone levels, testosterone levels in men, 25-hydroxyvitamin D test to determine whether the body had enough vitamin D, and biochemical marker tests, such as NTX and CTX (NOF, 2010).

Osteogenesis Imperfecta, also known as Brittle Bone Disease, is a disease that effects bones and joints. Osteogenesis Imperfecta is a disease that effects child, and most often children are born with this disease. In some cases the disease may take a couple years to show symptoms, but more often than not the disease is recognized when the child is born. “Osteogenesis Imperfecta is caused by a defect in the gene which produces collagen 1, an important building block of bone” (Osteogenesis). The bones are very fragile, and often times break when touched or moved. The severity of the disease depends on which portion of the gene is affected. If a child is lucky, the disease may only affect a small portion of the gene, which would make the

Osteogenesis imperfecta is a group of genetic disorders that mainly affect the bones. The term "osteogenesis imperfecta" means imperfect bone formation. People that suffer from this condition have bones that break or fracture easily; also giving it its more well-known name “brittle bone disease”. These bone fractures often occur from mild trauma or even with no apparent cause. There are eight recognized forms of osteogenesis imperfecta, they range from type I to type VIII. The types can be differentiated by their signs and symptoms, although the main characteristic features overlap between each other. Type I is the mildest form while type II is the most severe form of Osteogenesis imperfecta; the other types of this

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,

What is osteoporosis exactly? Literally, osteoporosis means “porous bone”. Derived from oste/o, meaning bone, and –porosis, meaning the condition of being porous. It is an imbalance between bone resorption and bone formation. Clinically defined as a disorder characterized by compromised bone strength leading to an increased risk of fracture (Lane, 2006). Normal bone structure includes an extracellular matrix with mineralized and non-mineralized components, which gives the bones their mechanical properties, as well as collagen and mineralized osteoid cells. Calcium concentration is extremely important is determining the compressive strength of the bone (Bethel, 2015). The structure of bone in an individual with osteoporosis has lost mineralization and collagen due to a decrease in the production of these components as a result, the bones become porous and brittle. Bone is living tissue, constantly being broken down and reformed through out life. Derived from

Some of the signs of FOP are the malformation of the big toe at birth, which can be short, bent or curved inward and help clarify the diagnosis ("IFOP a website," 30 M). However, sometimes the doctors overlook this malformation in that cases there are other signs you can look for. As infants most children crawl on there hands and knees though, infants with FOP rather than crawling they usually scoot on their gluteus maximus; then proceed straight to walking. The reason for this is ether the facet joints in the neck did not form properly or they have fused together ("IFOP a website," 30 M). Although, with FOP being congenital it starts before birth, though the extra bone growth does not. Symptoms often or usually begin in the first two decades of life and most people who are affected find out they have FOP before the age of ten ("IFOP a website," 30 M). Inflammation of the soft tissues in the body such as muscles, tendons and ligaments throughout become swollen and sometimes painful and often appear to be tumors ("IFOP a website," 30 M). However, once the swelling subsides it leaves behind a new piece of mature bone ("IFOP a website," 30 M). Typically, the inflammation and bone growth occurs in the shoulders, neck and upper back regions in early child hood followed by the areas of the spine, chest, elbows, wrists, hips, knees, ankles and jaw ("IFOP a website," 30 M). However, the growth rates of new bone

Osteoclasts break down bone tissue during the remodeling of bones. The malignant infantile form happens when an infant inherits a copy of the defective gene from both of the parents. For the adult form to occur, however, only one defective gene is necessary. Most of the time, however, the inherited gene is not what causes osteopetrosis. Normally the adult form is caused by a newly formed defective gene that came about at the time of

Imagine that he lets out a cry when being bathed, and you later learn that he has multiple fractures in his femur. Imagine learning that during birth he has fractures many ribs and X-rays show that he has several more healed fractures. This disorder is known as osteogenesis imperfecta, a genetic disorder that causes bones to be very fragile and to break easily. In most OI cases, there is a deformity that affects all structures that are made up of Type 1 collagen, like bones, cartilage, and ligaments. This deformity is based on a mutation that causes the genes encoding for type 1 collagen to be effected, and in turn reduces the amount of collagen in the bones. This mutation, most commonly known to be autosomal dominant, can lead to many different types of OI, ranging from a few fractures a year to prenatal death. We need more innovative approaches and better solutions to find a cure for this disease instead of just using braces and surgery that only improves living condition, but does not give patients a normal

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

     Osteoporosis is a health ailment which causes bones to become so porous that they can break easily. Osteoporosis literally means 'porous bones'. The bones in our skeleton are made of a thick outer shell and a strong inner mesh filled with collagen [protein], calcium salts and other minerals. The inside looks like honeycomb, with blood vessels and bone marrow in the spaces between bone. Osteoporosis occurs when the holes between bone become bigger, making it fragile and liable to break easily. Osteoporosis usually affects the whole skeleton but it most commonly causes breaks or fractures to bone in the wrist, spine and hip.

Osteoporosis is a common bone disorder that has many symptoms. The most common symptoms are fractures. There are many different types of fractures such as hip, wrist, and spine fractures. Fractures indicate that the person has osteoporosis. Osteoporosis with fractures is unrecognized in the clinical setting. Therefore, a diagnosis of osteoporosis can be conducted by the Fracture Risk Assessment Tool (FRAX) which is an efficient tool for evaluate the probability of bone fracture risk. FRAX mainly depends on the bone mineral density. Because bone mineral density is considered to be the standard measure for the diagnosis of osteoporosis and the assessment of fracture risk. Although osteoporosis has no obvious symptoms, FRAX provides significant information to diagnose osteoporosis.1

The major defect in Osteomalacia is a deficiency of activated vitamin D , which promotes calcium absorption from the gastrointestinal tract and facilitates mineralization of bone.

Osteoporosis is a condition when the bones become weak and brittle because the body loses