Transcript Osteogenesis Imperfecta - local.brookings.k12.sd.us

Osteogenesis
Imperfecta
Brittle bone disease
By Zachary G
What it is
• Osteogenesis Imperfecta is a genetic disorder in which the
bones can be easily Broken or harmed.
• There are at least eight types of this disease. I is the least
dangerous, and II thru VIII are more severe.
• The worst is II. It causes the body to have major deformities
and the person is extremely fragile
How It Happens
• It happens because a person has to little
collagen within there bones.
• Collagen is the framework which bones form
around.
• Without this collagen the bones framework is
fragile.
Symptoms
The classic symptoms include:
• Blue tint to the whites of their eyes (blue sclera)
• Multiple bone fractures
• Early hearing lose
Symptoms of more severe forms of OI may include:
• Bowed legs and arms
• Kyphosis (S-curve spine)
• Scoliosis
• Sclera have a blue, purple, or gray tint
• Soft bones that not only break easily but also bend
• Loose joints
• Poor muscle development
• Barrel-shaped ribcage
• Triangular face
• Poor tooth development, often causing teeth to be brittle and discolored
How many people have it and how
they got it
• Estimate suggests a minimum of 20,000 and
possibly as many as 50,000.
Inheritance Factors
Most cases of OI (85-90%) are caused by a dominant genetic
defect. This means that only one copy of the mutation carrying
gene is necessary for the child to have OI. Children who have the
dominant form of OI have either inherited it from a parent or,
when the parent does not have OI, as a spontaneous mutation.
Treatment
• There isn’t a treatment yet found to save
people with this disease.
• People who have this disorder are advised to
exercise to prevent bone fractures.
Differences Between Most Severe and
Least Severe
• Type I
• Most common and mildest type of
OI.
• Bones fracture easily. Most
fractures occur before puberty.
• Normal or near-normal stature.
• Loose joints and muscle weakness.
• Sclera (whites of the eyes) usually
have a blue, purple, or gray tint.
• Triangular face.
• Tendency toward spinal curvature.
• Bone deformity absent or minimal.
• Brittle teeth possible.
• Hearing loss possible, often
beginning in early 20s or 30s.
• Collagen structure is normal, but
the amount is less than normal.
Type II
•Most severe form.
•Frequently lethal at or shortly after birth,
often due to respiratory problems.
•Numerous fractures and severe bone
deformity.
•Small stature with underdeveloped lungs.
Tinted sclera.
•Collagen improperly formed.
Autosomal Or Sex linked
OI is a genetic disease. The inheritance pattern is usually
autosomal dominant. This means an affected person will have
OI even though only one faulty gene has been passed along.
This faulty gene can come from either parent, and it can affect
either sex. Each child of an affected parent will have a 50
percent chance of developing OI.
Dominate or Recessive
• This is usually a Dominant Trait