Symptoms
What is osteogenesis imperfecta in children? Osteogenesis imperfecta (OI) is a rare inherited (genetic) bone disorder that is present at birth. It's also known as brittle bone disease. A child born with OI may have soft bones that break (fracture) easily, bones that are not formed normally, and other problems.
Causes
To date, there is no known treatment, medicine, or surgery that will cure osteogenesis imperfecta (OI). The goal of treatment is to prevent deformities and fractures and allow the child to function as independently as possible. Treatments for preventing or correcting symptoms may include:
Prevention
A child born with OI may have soft bones that break (fracture) easily, bones that are not formed normally, and other problems. Symptoms may range from mild to severe. There are at least 8 different types of the disease. The types vary greatly, both within and between types. They are based on the type of inheritance (see below), and symptoms.
Complications
Glorieux FH, Rauch F, Plotkin H. Type V Osteogenesis imperfecta : a new form of brittle bone disease. J Bone Miner Res. 2002;15:1650–8.
What is osteogenesis imperfecta in children?
Can osteogenesis imperfecta (OI) be cured?
What are the symptoms of osteogenesis imperfecta (OI)?
What is Type V osteogenesis imperfecta (osteogenesis imperfecta)?
What is the best treatment for osteogenesis imperfecta?
To date, there is no known treatment, medicine, or surgery that will cure osteogenesis imperfecta (OI). The goal of treatment is to prevent deformities and fractures and allow the child to function as independently as possible. Treatments for preventing or correcting symptoms may include: Care of fractures.
Does osteogenesis imperfecta get worse with age?
It causes bones to break easily. In type 3 OI, your child's body produces enough collagen but it's poor quality. Your child's bones can even begin to break before birth. Bone deformities are common and may get worse as your child gets older.
What treatment options are available to individuals with osteogenesis imperfecta?
What are the treatments for osteogenesis imperfecta (OI)?Fracture care.Physical therapy.Bracing.Surgical procedures.Medication.Treatments for Related Conditions.
What is the life expectancy of a child with osteogenesis imperfecta?
Life expectancy varies greatly depending on OI type. Babies with Type II often die soon after birth. Children with Type III may live longer, but often only until around age 10. They may also have severe physical deformities.
Can people with osteogenesis imperfecta ever walk?
Conclusion: The type of OI is the single most important clinical indicator of the ultimate ability to walk. Information about motor development adds little. The early achievement of motor milestones contributes to the ability of independent walking when the type of OI is uncertain.
Does osteogenesis imperfecta affect the teeth?
About half of the people who have OI have teeth that appear normal, and their major concerns are routine care. However, the other half has a defect in the teeth called Dentinogenesis Imperfecta (DI), sometimes referred to as opalescent teeth or brittle teeth.
What medications do people with OI take?
Class Summary. Bisphosphonates are drugs that have been used off label for the treatment of osteogenesis imperfecta (OI). Drugs in this class may slow the loss of existing bones and may reduce long bone fractures and vertebral compressions. The most commonly used drug in this class is pamidronate.
Why is there no cure for osteogenesis imperfecta?
Because osteogenesis imperfecta (OI) is a genetic condition, it has no cure. For many years, surgical correction of deformities, physiotherapy, and the use of orthotic support and devices to assist mobility (eg, wheelchairs) were the primary means of treatment.
What is a bone infusion for osteogenesis imperfecta?
Pamidronate strengthens the bone by increasing bone density and corrects the imbalance between bone reabsorption and bone formation which occurs in osteogenesis imperfecta (OI). Pamidronate infusions are most effective when they are given every six weeks in small children and three-monthly in older children.
Who is the oldest person with osteogenesis imperfecta?
Some individuals with type VIII OI have lived into their second or third decade (currently, the oldest known individual is mid-20's).
Does osteogenesis imperfecta affect the brain?
Abstract. Osteogenesis imperfecta (OI) is a rare genetic disorder characterized by disruption of normal collagen formation resulting in varying degrees of skeletal vulnerability, ligamentous laxity, and scleral discoloration. Children with OI may suffer from complex neurosurgical problems affecting the brain and spine.
Clinical significance
Prognosis
Diagnosis
Symptoms
Health
Treatment
- The severity of OI varies considerably, with some children experiencing fractures in infancy and others in whom the disorder remains undetected until a series of fractures signals the need for evaluation. Infrequently, a patient reaches adulthood without being aware that they have a mild form of OI. Although there is still no cure for osteogenesis ...
Staff
- Although specialists in the field recognize that there may be even more variations of the disease than formerly recognized, currently, most OI diagnoses are categorized as one of the following types.
Research
- In addition to fractures, children with this condition may have ligamentous laxity (loose ligaments), muscle weakness, a tendency toward spinal curvature, and brittle teeth. Short stature - and in some cases severe growth retardation - is also a hallmark of OI.
Risks
- However, other medical problems may also be present at birth or develop during childhood, including respiratory difficulties resulting from rib cage deformities and underdevelopment of the lungs. Some people with OI may experience hearing loss (usually in their 20s) and/or tinted sclera (the whites of the eyes) due to the thinness of the sclera, which is composed of Type 1 collagen …
Benefits
- Because children with OI often have numerous medical needs, a number of specialists may be involved in their care. A multidisciplinary approach offers the best chance for reducing the number of fractures the child experiences, addressing deformity, maximizing function, and improving quality of life, says Daniel W. Green, MD, MS, FAAP, FACS, Associate Attending Orthopedic Surge…
Management
- At HSS, this means that orthopedists work as a team with pediatricians, pediatric physical therapists, genetic counselors, nurses, social workers and nutritionists. Much of this care is delivered through the Kathryn O. and Alan C. Greenberg Center for Skeletal Dysplasias under the direction of Cathleen L. Raggio, MD, Assistant Attending Orthopedic Surgeon at HSS and Co-Dire…
Introduction
- Leon Root, MD, attending orthopedic surgeon and former Chief of Pediatric Orthopedics at HSS, as well as a principal investigator in some of the first clinical studies of children with osteogenesis imperfecta, describes some of the early breakthroughs in the field. Some of our initial attempts to strengthen the bone involved giving OI patients magnesium sulfate, which we …
Cause
- Owing to a careful selection process, most patients on bisphosphonates therapy at HSS do well. However, according to Dr. Green, in those less frequent cases where there is no improvement after a year, the drug is discontinued. Bisphosphonates have been shown to interfere with the normal healing process after a surgical osteotomy and therefore, bisphosphonate therapy need…
Prevention
- The development of the Fassier Duval nails have helped transform the nature of surgery, as these telescoping rods grow along with the child. This can mean a reduction in the number of surgeries the child needs, says Dr. Green.
Future
- Regardless of the type of treatment they receive, maintaining or improving muscle and bone strength are goals for all children with osteogenesis imperfecta. But physical therapists also work closely with families of patients, especially those with newly diagnosed newborns. Parents often need help in learning how to carry and handle their infants, explains Frances Baratta-Ziska, PT, …