Osteogenesis

Imperfecta
Hello!
I am Holly Colburn
I am here to show you what I have learned about
Osteogenesis Imperfecta and hopefully you learn
something new.
What Is Osteogenesis Imperfecta?
Osteogenesis imperfecta is a disease that causes weak bones that break easily. It is
also known as brittle bone disease. Sometimes the bones break for no known reason.
Osteogenesis Imperfecta can also cause many other problems such as weak muscles,
brittle teeth, and hearing loss. About 20,000 to 50,000 people in the United States
have Osteogenesis Imperfecta..
What Causes Osteogenesis Imperfecta?
Osteogenesis Imperfecta is caused by one of several genes that arent working properly.
Genes carry our hereditary information. Each of the genes that cause Osteogenesis
Imperfecta plays a role in how the body makes collagen. Collagen is a material in bones that
helps make them strong. When these genes arent working properly, there isnt enough
collagen, or the collagen doesnt work properly. This leads to weak bones that break easily.
Most children inherit the gene that doesnt work properly from one parent. Some inherit it
from both parents. In some cases, neither parent passes on this gene. Instead, the gene
stops working properly soon after the child is conceived.
What Are the Symptoms Of Osteogenesis
Imperfecta?
All people with osteogenesis imperfecta have brittle bones. Osteogenesis Imperfecta can range from mild to severe and
symptoms vary from person to person. Some of the symptoms that people with Osteogenesis Imperfecta may have are:
~Malformed bones ~Short small body ~Loose joints ~Muscle weakness
~Sclera (whites of the eyes) that look blue, purple, or gray ~Triangular face
~Barrel-shaped rib cage ~Curved spine ~Brittle teeth
~Hearing loss (often starting in 20s or 30s) ~Breathing problems
~Type 1 collagen that does not work well ~Not enough collagen.
What Are SOme Types Of OSteogenesis
Imperfecta? Part 1
Type I
~Most common and mildest type of Osteogenesis Imperfecta ~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.
Type III
~Bones fracture easily ~Short stature ~Sclera have a blue, purple, or gray tint ~Loose joints and poor muscle development in arms and legs
~Barrel-shaped rib cage ~Triangular face ~Spinal curvature. ~Respiratory problems possible
~Bone deformity, often severe ~Brittle teeth possible ~Hearing loss possible ~Collagen improperly formed.
Type IV
~Between Type I and Type III in severity ~Bones fracture easily. Most fractures occur before puberty
~Shorter than average stature ~Sclera are white or near-white ~Mild to moderate bone deformity ~Tendency toward spinal curvature.
~Barrel-shaped rib cage ~Triangular face ~Brittle teeth possible ~Hearing loss possible ~Collagen improperly formed.
What Are SOme Types Of OSteogenesis
Imperfecta? Part 2
Type V
~Clinically similar to Type IV in appearance and symptoms of Osteogenesis Imperfecta ~A dense band seen on x-rays adjacent to the
growth plate of the long bones ~Unusually large calluses (hypertrophic calluses) at the sites of fractures or surgical procedures
~Calcification of the membrane between the radius and ulna ~White sclera ~Normal teeth. ~Bone has a mesh-like appearance when
viewed under the microscope.
Type VI
~Clinically similar to Type IV in appearance and symptoms of Osteogenesis Imperfecta ~Bone has a distinctive fish-scale appearance when
viewed under the microscope ~Eight people with this type of Osteogenesis Imperfecta have been identified.
Type VII
~The first described cases resemble Type IV Osteogenesis Imperfecta in many aspects of appearance and symptoms.
~In other instances the appearance and symptoms are similar to Type II lethal Osteogenesis Imperfecta, except infants had white sclera, a
small head and a round face ~Short stature ~Short humerus and short femur ~Coxa vara is common (the acutely angled femur
head affects the hip socket).
Type VIII
~Resembles lethal Type II or Type III OI in appearance and symptoms except that infants have white sclera. ~Severe growth deficiency.
How Is Osteogenesis Imperfecta
Diagnosed?
No single test can identify osteogenesis imperfecta.. To diagnose Osteogenesis Imperfecta,
doctors look at:
~Family history ~Medical history
`~Results from a physical exam ~X rays.
Your doctor may also test your collagen (from skin) or genes (from blood).
How Is Osteogenesis Imperfecta Treated?
Part 1
Although there is no cure for Osteogenesis Imperfecta, symptoms can be managed.
Treatments for Osteogenesis Imperfecta may include:
~Care for broken bones ~Care for brittle teeth
~Pain medication ~Physical therapy
~Use of wheelchairs, braces, and other aids ~Surgery.
How Is Osteogenesis Imperfecta Treated?
Part 2
One type of surgery is called rodding. Metal rods are put inside the long bones to:
~Strengthen them ~Fix bone malformations
~Prevent bone malformations.
How Is Osteogenesis Imperfecta Treated?
Part 3
A healthy lifestyle also helps people with Osteogenesis Imperfecta. You can help prevent
broken bones and maintain your health if you:
~Exercise (swimming, water therapy, walking) ~Keep a healthy weight
~Eat a balanced diet ~Do not smoke
~Do not drink a lot of alcohol and caffeine ~Do not take steroid medicines.
How Is Osteogenesis Imperfecta Treated?
Part 4
Proper care helps children and adults who have Osteogenesis Imperfecta to:
~Stay active ~Make bones more dense
~Keep muscles strong
What Research Is Being Done On
Osteogenesis Imperfecta?
No medications are approved to treat Osteogenesis Imperfecta But, experts are trying to
learn more about:
~Genes that cause Osteogenesis ~Medications to help people with Osteogenesis Imperfecta
grow.
~Drugs to make bones stronger. ~Better devices to use in surgery.
What it is like to live with Osteogenesis
Imperfecta?
Here is a 6 year old girl named Zoe who shows you how she lives with Osteogenesis
Imperfecta..
https://www.youtube.com/watch?v=f-oor-pz1xo
Thanks!
!
Any Questions?
 Credits Part 1
https://www.niams.nih.gov/health_info/Bone/Osteogenesis_Imperfecta/osteogenesis_imperfecta_ff.asp
http://www.oif.org/site/PageServer?pagename=fastfacts
https://ghr.nlm.nih.gov/condition/osteogenesis-imperfecta
http://dnadiseases.weebly.com/osteogenesis-imperfecta.html
http://www.usmle-forums.com/usmle-step-2-ck-forum/16016-osteogenesis-imperfecta.html
http://www.physio-pedia.com/Osteogenesis_Imperfecta
http://www.oif.org/site/PageServer?pagename=Youth
https://www.hss.edu/conditions_osteogenesis-imperfecta-approach-to-treatment.asp
https://www.fairview.org/HealthLibrary/Article/89058
https://www.pinterest.com/explore/osteogenesis-imperfecta/
https://prezi.com/bpf57h8x57iv/osteogenesis-imperfecta/
http://ehealthwall.com/osteogenesis-imperfecta-type-iv-2-i-ii-pictures-symptom/
http://dnadiseases.weebly.com/osteogenesis-imperfecta.html
https://www.emaze.com/@AFRCZIWT/Osteogenesis-Imperfecta
http://www.sciencephoto.com/media/447639/view
http://www.painmanagementalbuquerque.com/pain-medication-management.html
https://www.childrens-specialized.org/programs-and-services/outpatient-programs/physical-therapy
http://www.medandlife.ro/archive/79-vol-vi-iss-2-april-june-2013/special-articles-vol-vi-iss2/218-surgical-treatment-in-ost
eogenesis-imperfecta-10-years-experience
Credits Part 2
http://www.bcfforoi.org/
https://uk.pinterest.com/pin/123286108519584052/
https://www.pinterest.com/meldorr/pediatric-physical-therapy/
https://www.emaze.com/@AIFLILTI/Physical-Therapy-(Emily-and-Daniel)
http://oibelieveinisaiah.blogspot.com/
http://www.f-covers.com/facebook-cover/osteogenesis-imperfecta-awareness
http://www.audacitymagazine.com/wishbone-awareness-day-sharing-on-facebook/