Osteogenesis Imperfecta

Osteogenesis imperfecta is an inherited disorder of bone growth. The first symptom is a bone that breaks with very little force. If you suspect your child may suffer from the disorder, consult your doctor for a diagnosis. They will discuss your family’s medical history and do a thorough physical examination. They will also check your child’s teeth and eyes. They may also perform x-rays to determine whether your child is affected. If x-rays do not reveal the underlying cause, a doctor can perform a laboratory test to detect genetic mutations.

Clinical presentation

Although there is no cure for osteogenesis imperfecta, treatment options are supportive and corrective. Physical or occupational therapy can improve muscle strength and overall fitness depending on the severity of the condition. In addition, these therapies can help a child learn to use mobility aids and improve motor skills. In rare cases, surgery is recommended to repair broken bones or correct abnormal bone shapes.

Patients with osteogenesis imperfecta often have a family history of this disorder. It is also possible to inherit this disease from a parent, although most cases result from new mutations. Therefore, this condition often affects children. Patients with this disease should seek medical care immediately if they develop symptoms.

The severity of the condition varies greatly from individual to individual. Some patients have no disorder signs, while others suffer from multiple fractures. Age at the onset of fractures varies widely as well. The condition can also affect other areas, such as the teeth, heart, muscle strength, and ligament flexibility.

Treatments

Treatments for osteogenesis imperfecta are geared towards managing the condition and preventing complications, including bone fractures. Other treatment objectives include increasing bone density and muscle strength and preserving the ability to move independently. Treatments can include fracture care, physical therapy, surgery, and orthotics.

Medical bisphosphonates, which slow bone resorption, may be given to people with osteogenesis imperfecta. These medications are usually taken by mouth and can help patients avoid fractures. Other treatments may include immobilization, which keeps the bones still while healing, and specific exercises. These exercises can increase mobility and decrease fracture risks. In severe cases, corrective surgeries may be required.

Although the exact causes of osteogenesis imperfecta are still unknown, studies have shown that more than 80 percent of the genetic mutations responsible for the disease are autosomal dominant. This means that individuals with the condition have only one copy of the mutated gene, displacing the normal one. As a result, the affected individual cannot make sufficient amounts of normal collagen, leading to brittle bones. Osteogenesis imperfecta is a progressive disease that requires lifelong care and medical treatment.

Surgery

Pediatric osteogenesis imperfecta is a rare genetic condition with diverse skeletal issues. Surgery is necessary to alleviate symptoms, but significant anesthetic risks can occur during the procedure. In this study, authors investigated the incidence of significant anesthetic risks during pediatric osteogenesis imperfecta surgery. They evaluated a variety of anesthetic complications, including difficult airways, hypo and hyperthermia, and blood loss, as well as the association of these risks with surgical factors. Using descriptive and inferential statistics, they analyzed 252 orthopedic surgeries performed on 132 Chinese children with osteogenesis imperfecta from 2015 to 2019.

The treatment goals for osteogenesis imperfecta are to decrease deformity and restore a child’s functional abilities. Current treatments include medication to strengthen bones and physical therapy. Other measures include ensuring a child receives adequate calcium and vitamin D and preventing fractures.