Osteogenesis Imperfecta

Children born with the genetic disorder osteogenesis imperfecta (OI), also known as brittle bone disease, have bones that break easily, often from little or no apparent cause. These fractures are due to a collagen defect that causes the bones to be excessively fragile. A classification system of different types of OI is commonly used to help describe how severely a child with OI is affected.

Although there is no cure for OI yet, the experts of Nemours’ Osteogenesis Imperfecta Program are dedicated to helping children with the disease develop increased bone mass and muscle strength, prevent or control some of its associated symptoms, and become as independently mobile as possible.

The Nemours Difference

Because osteogenesis imperfecta can affect your child in many ways, you’ll have access to an entire team of Nemours specialists, including:

• orthopedic surgeons
• nurses
• physical and occupational therapists
• adaptive technology experts
• orthotists (specialists who fabricate and fit braces and other supports)
• dentists
• psychologists and social workers
• geneticists
• Some children with OI are of shorter stature than other children their age, and they may need special seating devices to encourage healthy postures and prevent bowing of the long bones. Our Therapeutic Services Department offers formal seating consultation for your child. 

Our therapeutic services team can provide therapy on an outpatient basis, including developmental stimulation, splinting, gait training, adaptive aquatic exercise, and assistance with activities of daily living.

We believe in a strong doctor-parent partnership, so we’ll work together in determining your child's specific needs regarding seating, adaptive equipment, counseling, and orthopedic intervention.

Conditions We Treat

• frequent fractures
• dental problems (tooth enamel appears brown and wears down easily)
• ligamentous laxity (very flexible ligaments)
• spinal deformities

Services We Offer

• medical history and physical examination
• bone density testing
• bone biopsy
• skin biopsy
• surgical management
  
• pamidronate therapy
• magnetic resonance imaging (MRI)
• social work consultation
• pool therapy
• splinting
• developmental evaluation
• discussion of lift/transport/activities of daily living
• positioning training
• assistive or adaptive services
• physical and occupational therapy consultation