Osteogenesis Imperfecta Bone Essay
Osteogenesis Imperfecta or more commonly known as Brittle Bone Disease, is a
condition causing extremely fragile bones and is known to be a congenital disease. This means
you are born with it. It is caused by a defect in the gene that produces type I collagen which is an
important building block of bone. Most causes of Osteogenesis Imperfecta are inherited from a
parent caring the gene . Some cases are the result of new genetic mutations. People with
Osteogenesis Imperfecta are usually below average hight. Osteogenesis Imperfecta does not
seem to occur in any certain race, it effects all races male and or female. A person with
Osteogenesis Imperfecta has a 50 per cent chance of passing on the gene and the disease to there offspring. Osteogenesis Imperfecta Bone Essay
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The symptoms of Osteogenesis Imperfecta are as follows:
Type I which accounts for 60 per cent of all cases
Most common and mildest type of Osteogenesis Imperfecta
Bones predisposed to fractures. Most occurring before puberty
Normal to near-normal stature
loose joints with low muscle tone
Bone deformity absent or minimal
Spinal curvature
Collagen structure is normal, but the amount is less than normal
Triangular shaped face
Sclera (whites of the eyes) usually have a blue, grey or purple tint to them
Brittle teeth
Hearing loss
The increase liability to bruising (thought to be due to the defective collagen)
Hernias are more common in people with Osteogenesis Imperfecta
Excessive sweating or intolerance of heat are common complaints, the cause is unknown
Type II
Most sever form
Death occurring shortly after birth, often due to respiratory problems
Small stature with underdeveloped lungs
Collagen is improperly formed
Numerous fractures
Severe bone deformities
Type III
Bones fracture easily
Fractures often present at birth
Short stature
Sclera (whites of eyes) to be a blue, grey, or purple tint
Loose joints
Poor muscle development in arms and legs
Triangular shaped face
Barrel-shaped rib cage
Spinal curvature
Bone deformity, often severe
Brittle teeth
Hearing loss
Respiratory problems
Collagen is improperly formed
The increase liability to bruising (thought to be due to the defective collagen)
Hernias are more common in people with Osteogenesis Imperfecta
Excessive sweating or intolerance of heat are common complaints, the cause is unknown Osteogenesis Imperfecta Bone Essay
Type IV
Between Type I and Type III in severity
Bones fracture easily, usually before puberty
Shorter than average stature
Sclera are white or near white, normal in color
Mild to moderate bone deformity
Barrel-shaped rib cage
Triangular shaped face
Spinal curvature
Brittle teeth
Hearing loss
Collagen is improperly formed
The increase liability to bruising (thought to be due to the defective collagen)
Hernias are more common in people with Osteogenesis Imperfecta
Excessive sweating or intolerance of heat are common complaints, the cause is unknown
The diagnoses of Osteogenesis Imperfecta.
Osteogenesis Imperfecta is diagnosed a few different ways. In most cases the diagnosis is
made from the pattern of fractures. In severely affected people X-rays may show characteristics
abnormalities. In the USA two specialized tests are sometimes used for the diagnosis of
Osteogenesis Imperfecta. One involves taking a small piece of the skin, culturing the cells and
chemically examining the collagen produced. The other uses a blood sample and searches for
mutations of the genes coding for the collagen of bone. Neither tests are more than 85 per cent
accurate in identifying cases of Osteogenesis Imperfecta. Chronic Villus Sampling maybe done
during pregnancy to determine if the fetus has the condition. However, because so many different
mutations can cause Osteogenesis Imperfecta, some forms can not be diagnosed with a genetic
test. Often the severe form Type II can be detected on an ultra sound when the fetus is as young as sixteen weeks old.Osteogenesis Imperfecta Bone Essay
The treatment of Osteogenesis Imperfecta.
There is no cure yet for this disease however curtain therapies can reduce pain and complications
due to this disease. Bisphosphonates are drugs that have been used to treat Osteoporosis. They
can increase the strength and the hardness of bone in people with Osteogenesis Imperfecta . They
have also been shown to highly reduce fracture rate. Swimming and low impact exercises help
maintain the strength of the bones. In more severe causes surgery may be used to place metal
rods into long bone in the leg to help reduce the risk of any further fractures. Osteogenesis Imperfecta Bone Essay.