Osteogenesis Imperfecta

In 1835, LOBSTEIN coined the term

osteogenesis imperfecta and was one of

the first to correctly understand the
etiology of the condition.
The earliest known case of osteogenesis
imperfecta is in a partially mummified
infants skeleton from ancient Egypt now
housed in the British Museum in London.

Other names:
OI

Lobstein

disease
Blue-sclera syndrome
Brittle Bone Disease
Fragile-bone disease

What is Osteogenesis
Imperfecta?

imperfectly formed bone.

is a condition causing extremely fragile bones.
is a congenital disease.
meaning it is present at birth.
is frequently caused by defect in the gene

that produces type 1 collagen.

important building block of bone
Autosomal dominantdisease.

if you have

ONE COPY of the gene, you

will have the disease.

most cases of OI are inherited from parent.
has a 50% chance of passing on the gene and the

disease to their children.

Types of
Osteogenesis
Imperfecta

 Type I Osteogenesis Imperfecta

only 50% of the collagen being produced, the
patient's bones are predisposed to fracture.
most common and mildest type of this disease.
While the structure of the collagen is normal, there is
less collagen than there should be.
There is little or no bone deformity, although the
bones are fragile and easily broken.
Type II Osteogenesis Imperfecta
only 20% of the normal amount of collagen being

produced due to malformation.

the most severe form of the disease.
The collagen does not form properly.
Bones may break even while the fetus is in the womb.
Many infants do not survive.

 Type III Osteogenesis Imperfecta

also has improperly formed collagen and often
severe bone deformities, plus additional
complications.
The infant is often born with fractures.
Type IV Osteogenesis Imperfecta
is moderately severe, with improperly formed

collagen.
Bones fracture easily, but the whites of the
eyes are normal.
Some people may be shorter than average
and may have brittle teeth.
Bone deformities are mild to moderate.

Clinical
Manifestations

Bone fractures
Bone deformity
Short height
Loose joints

muscle

weakness
Sclera (whites
of the eyes)
may have a
blue, purple,
or gray tint)
Triangular
face
Tendency
toward spinal
curvature

Brittle teeth
Hearing loss
Breathing

problems

Type I:
Stature should not be affected much
Very mild to no bony deformities
Teeth may be brittle and easily broken
Tinted sclerae that may appear to be

slightly blue, grey, or purple

Type II:
Soft, large cranium
Micromelia: long bones that are crumpled

and bowed; ribs beaded.

Respiratory problems that can lead to
death

Type III:
The

whites of the eyes may be white, blue, purple,

or gray.
Very short stature
Large skull
Triangular face
Easily fractured bones
Severe osteoporosis
Scoliosis
Barrel-shaped chest
Teeth may be brittle and easily broken
Possible hearing loss
May have spinal deformities, respiratory
complications, and brittle teeth.

Type IV:
Sclera are normal
Triangular shaped face
Teeth may be brittle and fracture easily
Skin may be thin and smooth
Possible hearing loss
Bruises easily
May perspire excessively
"Mild to moderate skeletal fragility and
osteoporosis
Associated bowing of long bones
Joint Hyperextensibility

Cause:
due to a genetic defect that causes

imperfectly-formed and inability to make

strong bones
an inadequate amount of bone collagen

a protein found in the connective

tissue.

Risk Factor:
A family with a history of OI.

Pathophysiology

Autosomal dominant or
recessive inheritance

Mutation change
occurs in the DNA

Reticulum fails to
differentiate into
mature collagen

abnormal collagen development

immature,coarse bone
formation and cortical
bone thinning
fragile bones

break
easily

Treatment
(Nonsurgical Treatment)

Medication.
Medical bisphosphonates
by mouth or intravenously, slow down bone resorption,

reduces the number of fractures and bone pain

must be administered by properly trained doctors and require
close monitoring.
Immobilization.
Casting, bracing, or splinting fractures is necessary to keep

the bones still and in line so that healing can occur.

Exercise.
movement and weight bearing are encouraged as soon as

the bone has healed

will increase mobility and decrease the risk of future
fractures.
Psychological counseling

Surgical Treatment
Rodding.Metal rods

may be inserted in
the long bones of the
arms and legs to help
reinforce the bone,
and subsequently
lessen the number of
fractures. Some rods
are a fixed length and
must be replaced as
a child grows. Other
rods are designed like
telescopes, and they
expand as a child's
bones grow.

Spinal fusion for

scoliosis.Although
bracing is the usual
treatment for scoliosis, it
is not often effective in
children with
osteogenesis imperfecta
because the ribs will
become deformed from
the brace, without
preventing the scoliosis
from worsening. Spinal
fusion, a surgery in which
the bones of the spine
are realigned and fused
together, may be
recommended when the
scoliosis becomes severe.

Nursing Diagnoses
Pain
Impaired physical mobility
Risk for injury
Risk for infection
Self-care deficit
Knowledge deficit
Impaired gas exchange
Anxiety
Ineffective individual coping

Nursing Interventions
Support limbs, do not pull on arms or legs or lift the legs to prevent

more fractures or deformities.

Position the patient with care.
Check the patients circulatory, motor, and sensory abilities.
Provide emergency care of fractures.
Observe for signs of compartment syndrome.
Encourage diet high in protein and vitamins to promote healing.
Encourage fluids to prevent constipation, renal calculi, and urinary
tract infection.
Provide care for client with traction, with cast, or with open
reduction.
Encourage mobility when possible.
Administer analgesics as prescribed.
Teach the patient preventive measures.
Monitor hearing needs.
Aggressively teach all upper respiratory infections including colds.

The condition is most often

diagnosed by:
x-rays
history of frequent fractures with
minimal trauma
genetic testing of a blood sample (DNA
blood test)
bone density scan (DXA)

Physiotherapy
used to strengthen muscles and improve

motility in a gentle manner, while minimizing

the risk of fracture. This often involves
hydrotherapy and the use of support cushions
to improve posture.
Individuals are encouraged to change
positions regularly throughout the day in order
to balance the muscles which are being used
and the bones which are under pressure.

With adaptive equipment such as crutches, wheelchairs,

splints, grabbing arms, and/or modifications to the home

many individuals with OI can obtain a significant degree of
autonomy.

Physical aids

SURGERY
Metal rods can be surgically inserted in the long bones to
improve strength
the placement of stainless steel rods into the intramedullary
canals of the long bones to stabilize and strengthen them
extremely useful in the rehabilitation and prevention of
fractures
Spinal fusion can be performed to correct scoliosis, although
the inherent bone fragility makes this operation more
complex in OI patients. Surgery for basilar impressions can be
carried out if pressure being exerted on the spinal cord and
brain stem is causing neurological problems

How to Prevent Osteogenesis

Imperfecta
OI is caused by a genetic defect has a
50% chance of passing the disease to
his or her children. Through.
genetic counseling, OI can be prevented
from being passed from one generation to
another.
healthy lifestyle with exercise and good
nutrition.
Avoid smoking and excessive alcohol
consumption, which may weaken bone and
increase fracture risk.