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OSTEOGENESIS IMPERFECTA

Bone disease :

Osteogenesis Imperfecta(OI) is a group of rare disorder affecting the connective tissue and characterized by extremely fragile bones that break or fracture easily (brittle bones) , often without apparent cause.

OI can vary from case to case , this may be a mild disorder or may result in severe complications.

This disease causes bones to be very weak and break with little or no trauma.


OI is also known as brittle bone disease.
 
There are eight different types of OI , each types have different signs and symptoms.

The most common are the 4 types which will be discussed here:

Type I
  • Least severe and most common 
  • More fractures will occur during childhood than adulthood
  • Some children may also experience hearing loss
Type II
  • More severe 
  • Underdeveloped bones at birth
  • Infants are born with soft skull bones
Type III
  • Very severe
  • Many infants are born with broken bones
  • Poor muscular development
  • Curved spine
  • Treatment need throughout the life
Type IV
  • Can range from mild to severe
  • Most children experience fractures before puberty
  • Bowed legs and curved spine
The four lesser lnown types only affect a total of 10 percent of people with OI.


The cause of this mutation is unknown.

WHAT ARE THE SYMPTOMS OF OI ? 

The symptoms can range from the severity of the disease. The most common symptoms are :

  • Weak muscles
  • Loose joints
  • Brittle teeth
  • Triangular face
  • Bowed legs
  • Curved spine
  • Malformed bones
  • Blue or purple sclera
  • Problem in breathing
DIAGNOSIS :
  • Collagen test
  • Physical examination
  • Family history
  • X-rays
MANAGEMENT AND TREATMENT :

There is no cure of this disease but the symptoms can be managed . Surgery to treat OI can involve the placement of rods into the bones to strengthen them and prevent them from breaking and deforming.

Physical therapy can also be used to strengthen muscles and to teach patients how to prevent breaks.

It is important to practice a  healthy lifestyle when one has OI , by eating a healthy diet rich in calcium , one can help improve bone strength .
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