Osteogenesis Imperfecta
Osteogenesis Imperfecta (OI) is such a rare disorder that many parents have not heard of it. The doctors at the Hospital for Joint Disease (HJD) Center for Children have a vast amount of experience with this condition and with traditional treatments being perfected, and new treatments for strengthening OI bone being investigated, most babies born today with OI have a good chance of leading independent, successful and satisfying lives.
Definition
Osteogenesis Imperfecta, also known as Brittle Bone Disease, is a genetic condition that causes bones to break easily, often for little or no obvious reason. People with Osteogenesis Imperfecta have a faulty gene that instructs their body to make either too little of type 1 collagen, the major protein of bones and other connective tissue or, poor quality type 1 collagen. The result is bones that break easily but the sooner OI is detected and treated, the more favorable the outcome.
Causes
Osteogenesis Imperfecta is thought to be caused by a genetic defect that causes an inadequate amount of bone collagen, a protein found in connective tissue.
Risk Factors
A child has a 50% chance of having the Osteogenesis Imperfecta if one parent has the condition. However, the disease can occur in children without any family history of OI.
Symptoms
Depending on the severity of the condition the symptoms can vary but in general bones are predisposed to fracture and the sclera (whites of the eyes) usually have a gray, blue or purple tint and there can be spine curvature.
Diagnosis
In addition to a physical examination a skin biopsy can be done to evaluate the amount and structure of collagen. X-rays may also be done.
Treatment
Surgical Care
To control fractures and improve abnormalities that interfere with function, the Hospital for Joint Disease Center for Children uses a procedure called Rodding, in which metal rods are inserted into the bones is used. There are two types of rods used in this process: Expandable rods that grow with the bone and, non-expandable rods which must be replaced as a child grows.
Non-surgical Care
To reduce the number of fractures and increase bone mineral density, pamidronate which reduces breakdown in bones, can be administered via IV. Osteogenesis imperfecta (OI), patients must also be evaluated to make sure the appropriate amount of calcium and vitamin D are taken.
Prevention
There is no known prevention for Osteogenesis Imperfecta.
Also see: Osteogenesis Imperfecta
The Wallace B. Lehman, M.D. Center for Pediatric Orthopedic Surgery
http://www.nyuhjd.org/hjd/centerforchildren/patient/wallace.html
The New York Institute for Limb Lengthening and Reconstruction http://www.nyuhjd.org/hjd/centerforchildren/patient/limb.html
The Center for Pediatric Rehabilitation and Pediatric Medicine
http://www.nyuhjd.org/hjd/centerforchildren/patient/ped_rehab.html
The NYU Hospital for Joint Diseases Pediatric Physical and Occupational Therapy Department
http://www.nyuhjd.org/hjd/centerforchildren/patient/rehabilitation.html
Child Life Program at Center for Children
http://www.nyuhjd.org/hjd/centerforchildren/patient/child_life.html
Music Therapy at Center for Children
http://www.nyuhjd.org/hjd/centerforchildren/patient/music_therapy.html
To make an appointment at the NYU Hospital for Joint Diseases Center for Children, please call 212-598-6205