Osteogenesis

Imperfecta
10cm
 OBJECTIVES
AT THE END OF THE LESSON THE
LEARNERS WILL BE ABLE TO:
•Identify the definition of Osteogenesis Imperfecta.
•What causes this disease.
•Understand the definitions of each type.
•Capable of differentiating or distinguishing each
type of the disease.
•Knowing signs and symptoms of this disease
•Familiarizing the treatments for this disease.
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 01
What is
Osteogenesis
Imperfecta?

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 Osteogenesis Imperfecta (OI)
—It is a genetic disorder that prevents
the body from building strong bones.
That’s why it’s also called as the
"Brittle Bone Disease". The term
"osteogenesis imperfecta" means
imperfect bone formation. People with
this condition have bones that break or
fracture easily, often from mild trauma
or with no apparent cause. Multiple
fractures are common.
But in severe cases, it can occur even
before birth. Milder cases may involve
only a few fractures over a person's
lifetime.The condition affects both male
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 WHAT IS THE MAIN CAUSE OF
THIS DISEASE?
Mutations in several genes can lead to OI.
About 80%–90% of OI cases are caused by
autosomal dominant mutations in the type 1
collagen genes, COL1A1 and COL1A2.
Mutations in one or the other of these genes
cause the body to make either abnormally
formed collagen or too little collagen.
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 HOW IS THIS DISEASE
INHERITED?
1. OI is passed on through the genes. The
different types are passed on in different
ways. The gene may be inherited from
one or both parents. Or the gene can be
passed on from an unexplained change
(spontaneous mutation) of a gene.
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 1.Most babies with OI have a defect of one of two
genes. These genes help in forming collagen.
Collagen is a main part of connective tissue that
connects and supports the whole body, including
the bones. Because of the defect, there is not
enough collagen or the collagen is abnormal.

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 There are at least 8 different types of the
disease. The types vary greatly, both
within and between types. They are
based on the type of inheritance and
signs and symptoms. These include
findings on X-rays and other imaging
tests. The OI types are as follows:

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 TYPES OF OI
Type I: This is the mildest and most
common type of brittle bone disease. About
50% of all affected children have this type.
The collagen is normal, but there isn’t
enough of it. People with type I have bones
that break more easily, but their bones are
usually shaped normally. The first bone
break usually happens when the child starts
walking. Fractures usually happen less often
after puberty.
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 FEATURES INCLUDE:
-Blue discoloration of the sclera (blue sclera)
-Abnormalities in the middle or inner ears resulting in hearing
impairment
-Loose joints
-Low muscle tone
-Bone fracture easily
-Abnormal outward curvature of the upper spine (Scoliosis)
-an abnormal lateral curvature of the upper spin (Kyphosis)
-Slight protrusion of the eye
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-Opalescent teeth Ref X-Ray Exp / 10
 TYPES OF OI
Type II: This is the most severe type.
The collagen is not formed normally.
Babies with type II are usually born
with many fractures, A baby has very
short arms and legs, a small chest,
and soft skull. He or she may be born
with fractured bones. He or she may
also have a low birth weight and
lungs that are not well developed. As
a result, a baby with type II OI usually
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 This type is
subclassified into
groups A,B,C which are
distinguished by bone
formation seen only on
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x-ray. Ref X-Ray Exp / 12
 TYPE IIA
-have broad and short long bones with broad
and beaded ribs
TYPE IIB
-demonstrates broad and short long bones with
thin ribs with little or no beading
TYPE IIC
- shows thin and longer long bones with thin
and beaded ribs.
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 TYPES OF OI
Type III: In this type, collagen
doesn’t form normally, and
babies often have broken bones
at birth. As kids get older, their
bones can break easily, and
they’re usually shorter than other
kids their age.
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 FEATURES INCLUDE:
• -Severe bone deformities
• -Loose joints
• -Triangular face
• -Poor muscle tone in arms
• -Early loss of hearing is possible
• -Discoloration of the sclera
• -Short stature
• -Respiratory problem is possible
• 10cm -Brittle, discolored teeth may also be present Ref X-Ray Exp / 15
 TYPES OF OI
Type IV: Collagen also doesn’t form
normally in type IV. Kids usually have
frequent bone breaks (which may
happen less often after puberty) and
abnormally shaped bones (similar to
type III). They’re shorter than other
kids their age and may have hearing
loss as an adult.
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 FEATURES INCLUDE:
• -Bones fracture easily, especially before puberty
• -Short Stature
• -Mild to moderate bone malformation
• -Hearing impairment
• -Spinal curvature
• -Bowed legs that may lessen with age
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 HOW CAN I PREVENT BRITTLE
BONE DISEASE?
• Because brittle bone disease is a genetic
condition, you cannot prevent it. If you or your
partner has OI or have a relative with the
condition, speak with a genetic counselor. They
can advise you about the risks of passing on the
condition and ways on how to improve this
condition
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 The main goal of treatment is to prevent
deformities and fractures. And, once
your child gets older, to allow him or
her to function as independently as
possible. Treatments for preventing or
correcting symptoms may include:

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 WHAT ARE THE TREATMENTS FOR
OSTEOGENESIS IMPERFECTA (OI)?
1. Bisphosphonate Medicines
-These are medicines that help to strengthen
bones and prevent fractures. They may be used
in most types of OI.

2. Care Of Fractures
-The lightest possible materials are used to cast
fractured bones. To prevent further problems, it
is recommended that a child begin moving or
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1. 3. Orthopedic Treatment
2. -is the branch of surgery concerned with conditions involving the
musculoskeletal system.
3.
4. 4. Rodding
5. -Metal rods are inserted to help hold in place and prevent deformities of long
bones.

6. 5. Dental procedures
7. -Treatments, including capping teeth, braces, and surgery may be needed.

8. 6. Assistive devices
9. -Wheelchairs and other custom-made equipment may be needed as babies get
older.
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 Thanks!
Do you have any questions?
Feel free to contact us!
[email protected]
[email protected]
CREDITS: This presentation template was created by
Slidesgo, including icons by Flaticon, and infographics &
images by Freepik

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 Our team

Caitlin Anne Tristan Jay De

Cayabyab Guzman
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 References

●
https://www.hopkinsmedicine.org/health/conditions-and-diseases/osteogenesis-imperfecta#:~:text=Osteog
enesis%20imperfecta%20(OI)%20is%20an,range%20from%20mild%20to%20severe.

●
https://my.clevelandclinic.org/health/diseases/15807-osteogenesis-imperfecta-oi#:~:text=Because%20britt
le%20bone%20disease%20is,of%20passing%20on%20the%20condition.

● https://www.nichd.nih.gov/health/topics/osteogenesisimp/conditioninfo/treatments

● https://kidshealth.org/en/parents/osteogenesis-imperfecta.html

● https://medlineplus.gov/genetics/condition/osteogenesis-imperfecta/

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 SIGNS AND SYMPTOMS OF
OSTEOGENESIS IMPERFECTA
• (OI) INCLUDES:
Easily broken bones
• Bone deformities, such as • A triangle-shaped face
bowing of the legs • Loose joints
• Discoloration of the white of • Muscle weakness
the eye (sclera), may be blue • Skin that easily bruises
or gray in color • Hearing loss in early
• A barrel-shaped chest adulthood
• A curved spine • Soft, discolored teeth

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 There is no specific test for OI. Your
doctor uses your medical and family
history, physical exam, and imaging
and lab tests to diagnose it. Your
doctor may also test your collagen
(from skin) or genes (from blood).

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