The medical term for brittle bone disease is “Osteogenesis Imperfecta”. This genetically disease manifests in different heredity patterns among family members, based on the type the disease. Basically, the genetic deformity causes low or faulty production of collagens, a protein that is the fundamental building brick of ligament tissues and as a result causes weakness of organs and tissues.
There are many types of brittle bone disease. While some cause death while in the womb, some manifest with numerous repeated fractures that create great difficulties to the child and the family. In some cases fractures are seen less frequently and patient can reach adult age with protective approaches.
Orthopaedic problems in brittle bone disease can be listed as repeated long bone fractures and related bone deformities, common loose ligaments, short stature, scoliosis, minor compression fractures in the vertebrae spines, characteristic tensile fracture in elbow and disposition between the skull and neck vertebrae that may cause nerve system problems. Apart from orthopaedic symptoms and findings, patients can have whites of the eyeballs turning blue, loss of hearing, frequently repeated bruises on the skin, frequent tooth cavities and loss of teeth as well as cardiac valves.
In brittle bone disease children can be treated for fractures and new fractures can be prevented with examination by paediatric orthopaedist and x-rays taken starting from birth. Furthermore, drug therapy starting from birth can be used to increase bone density and reduce fracture frequency. Despite all scientific studies, no definitive treatment is found. Marrow transplant, stem cell treatments and hormone treatments are still tried.
While cast and splint can be used for treatment of fractures in babies, surgical treatments are used after childhood both for better healing of the fracture and to prevent new fractures in the same bone. In children with scoliosis, after evaluation by paediatric orthopaedist, simple monitoring and surgical correction options are possible depending on the degree of the curvature and severity of the disease. In these patients, corset is not recommended in treatment of scoliosis.