Osteogenesis Imperfecta
Osteogenesis imperfecta (OI), also known as brittle bone disease, is a disorder that affects the body’s ability to make bones properly. Kids with OI don’t have enough collagen in their bones or have collagen that does not work as it should.
If a child has severe OI, they have weak, brittle bones that break easily. However, many children with OI have a milder form and are able to go through life with only a few fractures.
Causes
OI is a genetic disorder. A child either inherits the gene from a parent or has a spontaneous change in the gene at the time of conception which affects collagen production.
Symptoms
Common symptoms related to OI include:
Short stature
Triangular-shaped face
Breathing problems
Hearing loss
Brittle teeth
Bone deformities, such as bowed legs or scoliosis
Diagnosis
To determine if your child has OI, your specialized doctor will likely ask about your family medical history and check for other frequent signs of the condition including unexplained fractures and a bluish tint in the white of your child’s eyes called blue sclera. They may also order tests such as X-rays, DNA tests, and blood or urine tests. Babies with the most severe type of OI can sometimes be diagnosed with a prenatal ultrasound that detects fractures and bone deformities.
Types of Osteogenesis Imperfecta
Type I
The most common and mildest form of OI is Type I. With Type I, the body produces normal collagen, but not enough for strong bones. Children with this type will have little or no bone deformity, but will be more prone to fractures. Also, their teeth can be weak or brittle, and the whites of the eyes can have a blue, purple or grey tint.
Type II
The most severe form of OI is Type II. It causes problems with collagen formation, and bones can break as easily even when a child is still in the womb. Many babies with this form of OI will not survive past infancy.
Type III
A severe form of OI also caused by improperly formed collagen is Type III. It can cause severe deformities and other complications. Children with Type III often are born with fractures, have a blue, purple or grey tint to the whites of their eyes, as well as spinal deformities, respiratory complications and brittle teeth.
Type IV
A moderately severe form of OI also caused by improperly formed collagen is Type IV. Bone deformities will be mild to moderate, and children will be more prone to bone fractures and brittle teeth. The whites of the eyes will be normal, and some children grow up to be shorter than average.
Treatment
While there is no cure for OI, the goal of osteogenesis imperfecta treatment is to control symptoms and prevent complications in order to improve your child’s quality of life.
Treatment options will vary based on the type and severity of your child’s OI and might include:
Non-Surgical
Bisphosphonates: A type of medication aimed at slowing the breakdown of bone tissue, which can decrease the risk of fractures and reduce bone pain in children with OI. This medication is given as an infusion in childhood.
Immobilization: Following a fracture, a doctor may use casting or bracing to allow the bones to heal properly.
Physical therapy: Low-impact exercises can promote bone and muscle strength. They are also an important part of recovering from OI-related fractures.
Surgical
Surgery can be recommended for children with:
Repeated fractures of the same bone
Fractures that do not heal properly
Bone deformities
Rodding
Metal rods can be inserted into the long bones of the arms and legs to provide additional strength, which can reduce the risk of fractures. Rods can either be a fixed length that are replaced as a child grows or they can expand and be lengthened over time.
Spinal fusion
Some children with OI also develop scoliosis. If the curve is severe, surgically readjusting and then fusing the bones in the spine can prevent the scoliosis from becoming worse.