Osteogenesis imperfecta management surgery.ppt

fracture

1. Osteogenesis
Imperfecta

2. OSTEOGENESIS
IMPERFECTA
Ciri ciri :
-Autosomal herediter
-Dominan atau resesif
-Tulang osteoporotik dan mudah patah
-Tulang bengkok ( bowing )
-Ligament hyperlaxity
-Blue Sclera
-Dentinogenesis

3. OSTEOGENESIS
IMPERFECTA
Klasifikasi :
-Congenita : fraktur saat lahir
-Tarda : fraktur setelah lahir ( perinatal )
Tarda gravis : fraktur pada 1 tahun
pertama
Tarda levis : fraktur setelah 1 tahun
Patologi : Kegagalan maturasi serat
kolagen pada stadium pembentukan
serabut reticulin

4. OSTEOGENESIS
IMPERFECTA
Diagnosis :
Klinis :
-Kepala : faciocranial disproportion, blue sclera, discoloration
teeth ( kuning – coklat ), kadang2 tuli
-Extremitas : deformitas & bowing
-Tulang belakang : kyphosis, scoliosis
Radiologis :
-Pada tulang kepala : helmet head
-Pada tulang belakang : kyphosis, scoliosis
-Pada extremitas : tulang panjang memendek dan lebar dengan
cortex tipis

5. OSTEOGENESIS
IMPERFECTA
Terapi :
Medical :
-Sex hormone untuk deposisi calcium
-Calcitonin untuk mencegah resorbsi tulang
-Multivitamin
Surgery :
-Koreksi deformitas dengan Wilkam’s modification of so field Millar technique
Orthosis :
-Proteksi fraktur
-Suportif saat berjalan
Prognosis :
Tipe congenita meninggal saat lahir

6. 6

7. 7

8. Mode of
Inheritance
There are three ways to get the genetic disease:
Autosomal Dominant
Mutation
Mosaicism
Autosomal Dominant
Go Back to Table of Content

9. Autosomal Dominant
The defect may be inherited in an
autosomal dominant pattern from
an affected parent. This means that
an affected parent, who carries a
single gene for the disorder, has a
50% chance of having children with
the disorder. Any child who inherits
this gene will be affected.
Check out the Pedigree
and Chromosomes
Go Back to Table of Content

10. Pedigree and Chromosomes
Check out the
Punnett Square
Go Back to Table of Content
KEY
Affected Male
Normal Male
Affected Female
Normal Female
KEY
Chromosome with disease
gene
Chromosome with healthy gene

11. Punnett Square
Go Back to Table of Content
Mutation
Dd Dd
dd dd
D
d
dd KEY
D dominant
d recessive

12. Mutation
The defect may be
acquired by a
spontaneous mutation
occurring in the
individual egg or
sperm that formed the
child. In this case,
neither parent carries
a gene for the disorder
or is affected by it.
The parents, in this
case, are no more at
risk than the general
population for having
another child with the
disorder.
Mosaicism
Mutation
Go Back to Table of Content

13. Mosaicism
The defect may be acquired
through a pattern of
inheritance called
mosaicism. This occurs
when neither parent is
affected, but one carries a
percentage of sperm or
eggs which contain the
genetic defect.
 Therefore, though the
parents are unaffected,
some of their children may
have the disorder and
others will not. It is
estimated that about 2% to
7% of unaffected parents
who have had a child with
OI will have another child
with OI due to the
phenomenon of mosaicism.
Go Back to Table of Content

14. Clinical Description of
the Disorder
The disease is
characterized by easy
fracturing of bones,
growth deficiency,
abnormal teeth, thin
skin, blue sclera, overly
extensible joints.
All forms of
osteogenesis
Imperfecta include
fragile bones and
frequent bone fracture.
Go Back to Table of Content
Symptoms

15. Symptoms
Type I
Bone fractures more
common during
infancy and decrease
after puberty
Collagen is less than
normal
Bone deformity is
little or absent
Sclera is blue
Easy bruising
Hearing loss
Life expectancy is
normal
Type IIGo Back to Table of Content

16. Symptoms
Type II
Bone fractures are
present at birth
Collagen is improperly
formed
Death is due primarily to
lung underdevelopment
caused by rib factures
lungs
The sclera is blue
Small nose
Lower jaw
Hearing not affected
Small Stature
Life until young
adulthood
Go Back to Table of Content Type III

17. Symptoms
Type III
50% of individuals have
bone fractures before
birth
The rest have bone
fractures shortly after
birth
Collagen is improperly
formed
The Sclera is white
Shortening limbs
Progressive deformities
Facial deformities
Hearing not affected
Small Stature
Slightly decrease in life
expectancy
Go Back to Table of Content Type IV

18. Symptoms
Type IV
Bone fracture begin in
infancy
Collagen is improperly
formed
Hearing not affected
Shorter than average
stature
Slightly decrease in life
expectancy
Type IV is the most
heterogeneous group
because it compromises
those patients who do not
meet the criteria for the
other three types
Go Back to Table of Content Complications

19. Complications
Recurrent
Pneumonia
Heart Failure
Brain Damage
Permanent
deformity
Breathing
Problems
Hearing lost
Go Back to Table of Content

20. Treatment
There is no cure for osteogenesis
imperfecta, so treatment focuses
on reducing the number and
frequency of fractures.
Go Back to Table of Content Medication

21. Medication
Bisphosphonates
Pamidronate
Pain relief
Therapy Increase of
vertebras
Decrease of incidence
of fractures
No effects on growth
were reported
Hormone Replacement
Therapy
Strongly recommended
in postmenopausal
women with OI
Go Back to Table of Content
Vitamin D
and Calcium

22. Medication
 To protect
patients with OI
from trauma and
repeated
immobilization by
the fractures is
required Vitamin D
and calcium in
children and
adults.
Orthopedic
TreatmentGo Back to Table of Content
Calcium

23. Orthopedic
Treatment
The treatment of spinal
deformities varies with
the angle of the
scoliosis.
After a fracture of
surgery, prolonged
immobilization should
be avoided.
Rehabilitation therapy
should started early.
The goal of fracture
management should be
to restore the patient to
self-sufficiency as
completely and rapidly
as possible.
Go Back to Table of Content
Roding
Therapy

24. Rodding Surgery
A surgical procedure
called "rodding" is
frequently
considered for
individuals with OI.
This treatment
involves inserting
metal rods through
the length of the
long bones to
strengthen them and
prevent and/or
correct deformities.
Genetic
CounselingGo Back to Table of Content

25. Genetic Counseling
Parents of a child
with osteogenesis
imperfecta should
receive genetic
counseling of they
wish to have more
children.
Each future child
has a 50% chance of
being born with the
disorder.
Go Back to Table of Content Parent Education

26. Parent Education
Learn how to protect the
child during diapering,
dressing, and other
activities of daily living.
Teach the child to
assume some
responsibility for
precautions during
physical activity to help
development his/her
independence
Encourage the
importance of good
nutrition to heal bones.
Go Back to Table of Content Continue

27. Parent Education
Administer analgesics,
as ordered, to relieve
pain from frequent
fractures
Monitor dental and
hearing needs.
Encourage the need
for regular dental care
and immunizations
Provide a medical
identification bracelet
for the child
Go Back to Table of Content

28. Detection
The way to determine if a person has
osteogenesis imperfecta is by checking
the person’s symptoms such as:
Sclera color
Teeth may be yellow or even grayish
blue
Parent genes
Number of Fractures through infancy
Go Back to Table of Content Tests

29. Tests
Physical
Examination
It may confirm the
presence of
fractures,
deformities, and
other symptoms
Bone X-rays
It may show multiple
healed fractures
Go Back to Table of Content Diagnosis

30. Diagnosis
Diagnosis of
osteogenesis imperfecta
is based on the
discovery of number of
fractures in the infant’s
arms, ribs, legs.
X-rays can uncover
fractures that might not
be obvious. Child abuse
can also produce broken
bones, but the ways the
bones break and which
bones are typically
broken are different
than ostoegenesis
imperfecta.
Go Back to Table of Content Table of Statistics

31. Table of Statistics
KEY
1
st
. Fraction noted
at birth
In the first year
In pre-school
Early school years
15%
50%
25%
10%
Go Back to Table of Content
Frequency

32. Michel
French Jazz Musician
He was only 3 ft. tall and
weighted barely 50
pounds.
He play the piano
He make three albums
with Charles Lloyd
Some Ballads Some Blue
is one of his best album.
Go Back to Table of Content Unbreakable

33. Unbreakable
Samuel Jackson acts as he
was with osteogenesis
imperfecta.
In the movie OI is the
plot.
The plot is about a men
who survives in a train
crash, and a strange man
whose life is resolve
around comic books tells
him that he survive
because his purpose of
life is incomplete.
Go Back to Table of Content

34. Glossary of Terms
•X-rays An X-ray used to detect fractures, tumors, or
degenerative conditions of the bone.
•Fractures A break, rupture, or crack, especially in
bone or cartilage
•Autosomal Dominant is an abnormal gene on one of
the autosomal (non-sex determining) chromosomes. it
need only exist in the inherited chromosomes of one
parent for it to cause disease
•Mutation A change of the DNA sequence within a
gene or chromosome of an organism resulting in the
creation of a new character or trait not found in the
parental type.
•Mosaicism condition in which tissues of genetically
different types occur in the same organism
•Chromosomes circular strand of DNA that contains
the hereditary information necessary for cell life.
•Sclera the white of the eye
Collagen The main supportive protein of
cartilage, connective tissue, tendon, skin, and
bone
•Bisphosphonates class of drugs that inhibits
the restoration of bone
•Pamidronate an class of bisphosphonates that
contains nitrogen
•Vitamin D A fat-soluble vitamin occurring in
several forms, especially vitamin D2 or vitamin
D3, required for normal growth of teeth and
bones
•Calcium A soft metallic element that is a basic
component of animals and plants and
constitutes [approx] 3 percent of Earth's crust
•Scoliosis Abnormal lateral curvature of the
spine
•Rods A thin straight piece or bar of material,
such as metal or wood
•Nutrition A source of nourishment; food.
Go Back to Table of Content

35. References
National Institutes of Health
 Osteoporosis and Related Bone Diseases
 National Resource Center
1232 22nd St., NW Washington, DC 20037-1292
Tel: 800/624-BONE or 202/223-0344 Fax: [phone], TYY: 202/466-
4315
http://www.osteo.org E-mail: [email protected]
Osteogenesis Imperfecta Foundation
804 W. Diamond Avenue, Suite 210 Gaithersburg, MD 20878
Tel [phone] or 800-981-BONE Fax [phone]
Email: [email protected] Internet: www.oif.org
Children Brittle Bone Foundation
Telephone [phone] FAX [phone]
Postal address 7701 95th Street, Pleasant Prairie, WI 53158
Go Back to Table of Content

36. THANK YOU