Osteogenesis Imperfecta

What is Osteogenesis Imperfecta?

Osteogenesis Imperfecta (OI), or Brittle Bone Disease, is a condition where the person has fragile bones that break easily with no evident reason. Though anyone can get this condition, the chances of OI are higher if you have a family history of the disease.

Osteogenesis Imperfecta is classified into four main types:

• Type 1: It is the mildest but most common form. The child may have a few fractures and deformities
• Type 2: It is the most severe type in which the child may be born with fractured bones and may have a low birth weight with lungs that are not well-developed 
• Type 3: This is also one of the more severe types, where the baby may have arms and legs that are shorter than normal and arm, leg, and rib fractures. Such babies may have breathing and swallowing problems and deformed chests and spines.
• Type 4: A child with Type 4 may have symptoms that may be between mild and severe. The child may start getting fractures while crawling or walking. Bones and legs may not be straight, and the child may not grow normally. 

Apart from the above 4, various other types of osteogenesis imperfecta (up to 19) have been described in literature.

Symptoms of Osteogenesis Imperfecta

People born with the condition have many broken bones during their lifetime and may also have consequent deformities of bones. In severe cases, there may be numerous broken bones, even before birth. The symptoms may vary depending on the type.

Here are some other symptoms related to this disorder:

• Frequent fractures with minimal injury or fall
• Easy bruising
• Curved spine
• Brittle or weak teeth
• Chest is barrel-shaped
• Discoloration of the white of the eye (blue or grey)
• Muscle weakness
• Discoloured teeth
• Hearing loss at an early age
• Triangular face shape
• Breathing difficulty

Treatment Process Under Dr. Somesh

People with Osteogenesis Imperfecta need continuous care throughout their lives. When you bring your child to our clinic, we will make a proper assessment using X-rays and sometimes test the blood, saliva, and skin, or less commonly, may conduct a bone biopsy.

Our focus will be on managing the symptoms, increasing bone mass, preventing deformities, improving strength, and helping the child live independently.

The treatment we provide to prevent or correct symptoms includes:

• Medications: We will prescribe medicines to strengthen the bones and prevent fractures. There are medicines available now which can help in decreasing the frequency of fractures.
• Fracture care: The best possible materials and techniques are used to cast the fractured bones and sometimes may need surgical intervention to prevent or correct the deformities of bones.
• Orthotic treatment: It includes bracing and splinting to prevent deformities and also to protect weak bones. The splinting may also aid the ambulation of the child 
• Physical therapy: Skilled therapists conduct exercises to increase strength, range of motion, and flexibility.
• Assistive devices: We prescribe aids like crutches or walkers for better mobility

With proper care at our clinic, babies born with a mild form of Osteogenesis Imperfecta can live healthy lives up to adulthood. Our primary goal is always to increase bone strength in such children and improve their quality of life.