Osteogenesis Imperfecta

1
Osteogenesis Imperfecta
Meaning imperfect bone formation

• Also Known As
• Brittle Bone Disease
• Brittle Bone Syndrome

2
How Common is it?
A range of 25,000 to 50,000 Americans are
affected by OI. This wide range is due to the
fact that very mild cases of OI often go
unnoticed and are not diagnosed.
Worldwide, about 1 in every 20,000 people have
OI. Generally, it is a rare disease.
3
Q WHAT IS OSTEOGENESIS IMPERFECTA?
A OI is a genetic disorder the affects the gene
that produces collagen in your body. Collagen is
a protein that connects tissues in your body. It
also helps with the formation of teeth,
ligaments, and sclera (white outer tissue of the
eyeball).

• SYMPTOMS
• multiple, frequent fractures
• muscle weakness
• joint laxity
• curved bones
• Scoliosis
• brittle teeth
• short stature
• blue sclera
• fragile skin
• triangular head and face shape
• respiratory complications

By looking at a person, you MAY be able to tell
if they had OI by their abnormally small stature,
the whites of their eyes being a blue color, they
would have a triangular head shape, and could
potentially be using a walker, wheelchair, or
have casts on at the time. However, some people
with OI have relatively mild symptoms and you MAY
NOT notice that they look different in any way.
4
WHO?
and is probable to show up in any racial group or
ethnicity.
Osteogenesis Imperfecta is seen in both males and
females.
5
How does OI affect a persons life?
Based on the type of OI, a persons lifespan
could be affected very little, while it can also
be drastically affected. There are 8 different
types of OI. Similar symptoms may occur in all
types of OI with varying severity. Different
symptoms may also show up within the same type.
6
How does OI affect a persons life?
CONTINUED
TYPE I mildest and most common form of disorder
does not usually affect lifespan unless a
severely traumatic event occurs most fractures
occur during youth and adolescence TYPES II and
III most severe types infants with TYPE II
commonly die during pregnancy or shortly after
birth , however some with TYPE III may survive
longer but with many disabilities and traumatic
events TYPES IV-VII moderate forms of disease
lifespan not dramatically affected more rare
than type I and deal with different genes TYPE
VIII more severe type similar to types II or III
but some symptoms vary There is no certain
reduced life expectancy, but with more severe
cases of OI the probability of death from
accidental trauma or respiratory complications is
highly increased. -Respiratory problems and
accidental trauma are the most common deaths of
people who have OI.
7
Can a person be tested for OI?
How is OI treated?
YES. Testing can take place to make a diagnosis
if a person is showing symptoms of OI. Tests can
also be planned for children whose families have
been affected by OI. Testing and diagnosis is
usually done during childhood, and a diagnosis
can sometimes be made during pregnancy.

There is no cure for OI as of right now. However,
there are some ways of dealing with the disorder.
Biophosphonates and other medicines are used to
make bones stronger and more dense, and
surgically placing rods in the bones of the legs
often help prevent major fractures. There are
minor symptoms of the biophosphonates, including
stomach upset and heartburn. On a regular basis,
doctors and families focus on mobility and safe
exercise such as swimming and physical therapy,
as well as keeping fracture numbers to a minimum.
Braces, wheelchairs, and casts are useful aids
as well.

• Methods of testing include
• X-Rays
• DNA sequencing using a collagen sample from
  blood
• Biochemical tests using a collagen sample from
  the skin
• tests during pregnancy can be done through
  ultrasound and amniocentesis

8
Support Groups
The Osteogenesis Imperfecta Foundation is a major
organization that helps educate people about OI.
It also gives reference to several people whom
you can contact about local support groups near
you.
9
Inheritance Patterns and Gene Location
10
Inheritance Patterns and Gene Location
Continued
Chromosome 17                                   
                                                  
                                 
                                                  
                                                  
                                                  
                                                  
                                                  
                                                  
                                                  
                                      
11
(No Transcript)
12
INTERESTING FACTS
OI was recognized in an Egyptian mummy that is
dated back to 1000 BC.
Parents of children with OI are often accused of
child abuse, which is why they are advised always
to carry a document stating their childs
condition so that their kids arent taken from
them at any point.
OI does not affect fertility.
The 2 forms of OI that are inherited recessively
were discovered only 4 year ago.
13
(No Transcript)
14
oif.org genome.gov orthoinfo.aaos.org Dnarss.com G
hr.nlm.nih.gov
SOURCES