Brittle Bone Disease (Osteogenesis Imperfecta)

The medical equivalent of brittle bone disease is the disease called osteogenesis imperfecta. This genetic disease occurs among the individuals in the family and exhibits different patterns of inheritance according to its type.

This genetic disorder leads to a defective and inadequate production of the collagen, a building block of the connective tissues, and results in weakness of the organ-tissues.

There are many different types of brittle bone disease. While some types still result in death of the baby in the womb, some are manifested by many recurring fractures that raise difficulties for the child and the family. In some patients, the fractures are seen less frequently, and the patient can be brought to adulthood with the protective approaches.

The conventional orthopedic problems in the brittle bone disease are the recurrent long bone fractures and the related bone deformations, common looseness in the ligaments, short stature, scoliosis, small compression fractures in the spine, characteristic compression fractures in the elbow, and the loss of position between the skull and cervical vertebrae, which may cause problems in the nerve system.

In addition to the orthopedic signs and symptoms, these patients may experience blueness in the white of the eyeballs, hearing loss, frequent bruising on the skin, frequent dental caries and loss of the teeth, and heart valve disorders.

In the brittle bone disease, the children may be treated for the fractures from the time of birth according to the assessment and the x-ray examination performed by a pediatric orthopedist, and the formation of new fractures may be prevented. In addition, the bone density can be increased and the frequency of fractures may be reduced with the drug treatments given from the infancy. Despite all the scientific studies, no definite treatment for the disease has been found yet. Bone marrow transplantation, stem cell therapies and hormone applications are currently being tested.

When a fracture occurs, infants are treated with casting and splints, but surgical treatments are applied to ensure that the fracture heals properly from the childhood and that no new fractures occur in the same bone in the future. In children with scoliosis, simple follow-up and surgical correction options are available for treatment according to the angular degree of the curvature and the severity of the disease, after evaluation by a pediatric orthopedist. Scoliosis treatment with corset is not recommended for these patients.