GROUP ONE [ 1 ] PRESENTING ON

OSTEOGENESIS IMPERFECTA
GROUP MEMBERS

 BOAKYEWAA SARAH
 AKONOBEA PORTIA
 ANN ASARE

 OBIRI YEBOAH LYDIA

 ASIEDU FELIX
 DUODUWAA PRISCILLA

 BOAKYEWAA SABI LINDA

 AGUMEY KENNETH MAWUTOR

 ZOTTOR GODFRED

 ATTA SAMUEL

 ADOMAKO SAMUEL
OSTEOGENESIS IMPERFECTA
[ BRITTLE BONE DISEASE ]
A group of inherited disorders characterised by fragile bones that
breaks easily.
Osteogenesis imperfecta is caused by defective gene. These genes
affects how the body makes collagen , thus a protein that helps
strengthen bones.
It’s typically present at birth, but it only develops in children who
have a family history of the disease.
It is often refer to as Osteogenesis Imperfecta , which means
‘’Imperfectly formed bones’’
BBD can range from mild to severe. Most cases are mild, resulting in
few bone fractures. However, the severe forms of the disease can
cause ;
 CONT……..

 Hearing Loss
 Heart Failure
 Spinal cord problems
 Permanent deformities

CAUSES OF OSTEOGENESIS IMPERFECTA

BBD is caused by a defect , or flaw in the gene that produces type 1
collagen , a protein used to create bone. The defective gene is usually
inherited. In some cases , a genetic mutation or change can cause it.
 CONT…..

TYPES OF OSTEOGENESIS IMPERFECTA

Four different genes are responsible for collagen production.
Some or all of these genes can be affected in people with
osteogenesis imperfecta. Defective genes can produce eight
types of BBD ; labelled as type 1 through type 8 osteogenesis
imperfecta
The first four types are the most common. And the last four are
extremely rare , and most are subtypes of type 4 osteogenesis
imperfecta
There are four main types of osteogenesis imperfecta
CONT….
TYPE 1 OSTEOGENESIS IMPERFECTA

It is the mildest and the most common form of brittle bone disease. In
this type of BBD , your body produces quality collagen but not enough
of it. This results in mildly fragile bones. Children with this type
typically have bone fractures due to mild traumas. Such bone
fractures are much less common in adults. The teeth may also be
affected , resulting in dental cracks and cavities
 CONT….
TYPE 2 OSTEOGENESIS IMPERFECTA
This is the most severe form of brittle bone diseases ( BBD ), and it can be life
threatening. In this type, the body either doesn’t produce enough collagen or
produces collagen but is of poor quality. This can cause bone deformity. If
your child is born with type 2 osteogenesis imperfecta, they may have a
narrowed chest, broken or misshapen ribs, or underdeveloped lungs. Babies
with type 2 osteogenesis imperfecta can die in the womb or shortly after birth.
CONT….
TYPE 3 OSTEOGENESIS IMPERFECTA
This is a severe form of brittle bone disease (BBD). It causes
bones to break easily. In this type, your child’s body produces
enough collagen but it’s poor quality. Your child’s bone can even
begin to break before birth. Bone deformities are common and
may get worse as your child gets older.
CONT….
TYPE 4 OSTEOGENESIS IMPERFECTA
It is the most variable form of brittle bone disease (BBD)
because its symptoms ranges from mild to severe. As with type
3 osteogenesis imperfecta, your body produces enough collagen
but the quality is poor. Children with type 4 osteogenesis
imperfecta are typically born with bowed legs although the
bowing tends to lessen with age.
CONT…..
SYMPTOMS
Symptoms differ according to the type of the diseases. Everyone
with brittle bone disease has fragile bone, but severity varies from
person to person.
 Bone deformity
 Multiple broken bones
 Loose joint
 Weak teeth
 Blue sclera, or bluish colour in the white of the eye
 Bowed legs/arms
 Kyphosis , or abnormal outward curve of the upper spine
 Scoliosis , or an abnormal lateral curve of the spine.
 Heart defects
CONT….

DIAGNOSIS
 Physical examination which includes; measuring the length
of the limb and the circumference of the head
 Personal and family medical history, which include
questions about broken bone
 X- ray
 Bone density test
 Bone biopsy
 Collagen test
CONT….
MEDICAL TREATMENT
To date, there is no medical treatment, medicine or surgery that will
cure osteogenesis imperfecta. The goal of treatment is to prevent
deformities and fractures and allow the child to function as
independently as possible
 Care of fractures
 Surgery
 Rodding : a procedure to insert a metal bar the length of a long
bone to stabilize it and prevent deformity
 Assistive devices, such as wheel chairs, braces, and other custom
made equipment.
 Administration of IV pamidronate which reduces the incidence of
fracture and increases bone mineral while reducing pain and
increasing energy levels. Doses vary from 4.5 – 9mg/kg a day
depending on the protocol used.
CONT….
SURGICAL TREATMENT
This aim to correct and prevent the deformity resulting from
multiple fractures. Surgical interventions include; intramedullary
rod placement and correction of scoliosis. Metal rods can be
surgically inserted along the long bones to improve strength.
However, this can have side effect of reduced joint mobility,
although not always. In patients with bowed long bones,
intramedullary rod placement may improve weight bearing and
thus enable the child to walk at an earlier stage than he/she might
otherwise
CONT….
PREVENTION
 Child may be restricted from playing contact sports
 Avoid activities that twist the spine
 Wearing a helmet and knee/elbow pads for sports like bike riding and
roller blading is recommended
 Good fitting shoes helps to support the ankles and prevent
tripping/slipping