OSTEOGENESIS

IMPERFECTA

BSN 217- Group 66A

OSTEOGENESIS IMPERFECTA
 Also known as “Brittle Bone Disease”

 Osteogenesis imperfecta (OI) is a genetic disorder

characterized by bones that break easily because of
the less production of collagen

 COLLAGEN- is the major protein of the body's

connective tissue and can be likened to the
framework around which a building is constructed
OSTEOGENESIS IMPERFECTA
 CAUSES:
 dominant genetic defect (known as
autosomal dominant) in the genes
responsible for making collagen.

 less
collagen than normal, or a poorer
quality of collagen than normal, can lead
to weak bones that fracture easily.
TYPES OF OSTEOGENESIS IMPERFECTA
 TYPE 1
 Sclera (whites of
the eyes) usually
have a blue,
purple, or gray
tint.
TYPES OF OSTEOGENESIS IMPERFECTA
 TYPE 1
 Tendency toward
spinal curvature.
 Brittle teeth
possible.
TYPES OF OSTEOGENESIS IMPERFECTA
 TYPE 1
 Triangular face.
 Bones fracture
easily. Most fractures
occur before puberty.
 Loose joints and
muscle weakness.
TYPES OF OSTEOGENESIS IMPERFECTA
 TYPE 1
 Bone deformity absent or
minimal.
 Hearing loss possible, often
beginning in early 20s or
30s.
 Collagen structure is normal,
but the amount is less than
normal.
TYPES OF OSTEOGENESIS IMPERFECTA
 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.

OSTEOGENESIS IMPERFECTA TYPE 2
TYPES OF OSTEOGENESIS IMPERFECTA
 Type III
 Bones fracture easily. Fractures often present at birth,
and x-rays may reveal healed fractures that occurred
before birth.
 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. 
TYPES OF OSTEOGENESIS IMPERFECTA
 Spinal curvature.
 Respiratory problems possible.

 Bone deformity, often severe.

 Brittle teeth possible.

 Hearing loss possible.

 Collagen improperly formed.

TYPES OF OSTEOGENESIS IMPERFECTA
 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 (i.e. normal in color).

 Mild to moderate bone deformity.

 Tendency toward spinal curvature.

 Barrel-shaped rib cage.

OSTEOGENESIS IMPERFECTA TYPE IV
TYPES OF OSTEOGENESIS IMPERFECTA
 Type V
 Clinically similar to Type IV in
appearance and symptoms of OI.

 Unusually large calluses

(hypertrophic calluses) at the sites
of fractures or surgical procedures.
(A callus is an area of new bone
that is laid down at the fracture site
as part of the healing process.)
TYPES OF OSTEOGENESIS IMPERFECTA
 Calcification of the membrane between the
radius and ulna (the bones of the forearm). This
leads to restriction of forearm rotation. 
 White sclera.

 Normal teeth. 

 Bone has a “mesh-like” appearance when

viewed under the microscope. 
TYPES OF OSTEOGENESIS IMPERFECTA
 TYPE VI

 “Fish-scale” appearance of bone under the microscope.

 Extremely rare, moderate in severity, and only identified
through bone biopsy.
TYPES OF OSTEOGENESIS IMPERFECTA
 TYPE VII
 Severe or lethal bone
dysplasia similar to type II &
III.
 Small head circumference,

 exophthalmos,

 white or light blue sclera .

TYPES OF OSTEOGENESIS IMPERFECTA
 TYPE VIII

 Severe or lethal bone

dysplasia similar to type II &
III. West African origin
DIAGNOSTIC PROCEDURE
 SKIN BIOPSY- to evaluate the amount and structure of
collagen

 x-ray - a diagnostic test which uses invisible electromagnetic

energy beams to produce images of internal tissues, bones,
and organs onto film

 an examination of the ear, nose, and throat (to detect

hearing loss)
DIAGNOSTIC PROCEDURE
 Ultrasound – Ultrasound examination of the fetus can
detect Type II OI at about 14 to16 weeks gestation and
Type III OI at about 18 to 20 weeks. Other forms of OI
may be detectable if there are intrauterine fractures.

 physical exam
 medical history, including pregnancy and childbirth
information
 family history
SKIN BIOPSY
TREATMENT
 Nonsurgical Treatment

Medical bisphosphonates
given to the child either by mouth or intravenously,
slow down bone resorption.

• decreases the number of fractures and bone pain.

• must be administered by properly trained doctors and
require close monitoring.
TREATMENT
 Casting, bracing, or
splinting of fractures is
necessary to immobilize the
bone so that healing can
occur. Movement and
weight bearing are
encouraged as soon as
possible after fractures to
increase mobility and
decrease the risk of future
fractures.
TREATMENT
 Surgical Treatment
 Metal rods may be inserted in
the long bones of the arms
and legs.
( For severe cases. )
NURSING MANAGEMENT