Pediatric Orthopedics

Brittle bone disease

Brittle bone disease

Brittle bone disease is a disease that can be seen together with fruquent fractures,  blue sclerae, dental disorders and hearing impairment.

What causes Osteogenesis Imperfecta?

Osteogenesis Imperfecta is associated with structural defect of ‘type 1’ of collagen in the bone.

Heriditery factors

Brittle bone disease, familial genetic structure of mother and father as shown by the transition.However the disease can be seen as a result of intrauterine mutations.. If the mother or father to pass one of the familial disease, the child has a 50% risk of disease. In addition, the disease can be due to  Guerlain Mosaizm genes in which, some of the mothers and fathers may be intact. If this child has the diseased genes, she/he has the disease. Mosaizm mothers and fathers, the risk of being infected with a child is betten 2-7%.


Brittle bone disease diagnosed clinically. Also skin biopsy, genetic testing and intrauterine blood, can be performed by amniocentesis from 14 to 18 weeks.

Osteogenesis Imperfecta types

4 types of brittle bone disease, is available. Type 2 Brittle Bone disease children succumb early postpartum period. Besides, sclera types being white, or blue, with or without dental disorders, brittle bone disease can be associated with hearing impairment.

Development of Brittle Bone disease

Brittle bone disease, type 1 collagen structure in the form of disorder in childhood is finding. Most of the time the first signs of recurrent fractures, blue sclera,  dental disorders may aalso be  associated. The least severe form of the disease is the one classifed as Type 4.

Brittle Bone disease treatment

Fractures  treatment should be applied once the patient has a fracture.  In patients with bone  deformities because of the neglected and improperly treated fractures, deformities can be  corrected surgically with intramedullary fixation. Promising studies are in progress on gene therapy and treatment with growth hormone.

Decreasing the frequency of fractures

In recent years, in order to reduce the frequency of fractures secondary to osteoporosis, bisphosphonates are used  with a certain dose and interval to decrease the frequency of the fractures  in  Osteogenesis Imperfecta. Mobilization of these children bears paramount importance and   physical therapy and rehabilitation is an absolute need for them.

The number of patients in our country

Total number of patients in Turkey  is not known.

The number of patients around the world

The exact number of patients in the United States is unknown, but by the Foundation osteogenesis imperfecta brittle bone disease people are estimated to be between 20 000 and 50 000.

Recommendations for people who are suffering from Osteogenesis Imperfecta

The relatives of those diagnosed with brittle bone disease who give  care them should  take into consideration of the risk of breaking bones, circumspectly transfer of the patient, performing exercises as demonstrated.

Medical Records

For school records,  in case of illness or admittance to the authorities, It is extremily important to provide correct information about the disease. In these patients, hearing loss, dental problems should also be evaluated perodically by experts.

What are the methods of treatment for Patients who  had not received any treatment for 10-15 years?

Correction of deformities and osteoporosis prevention following full evaluation can be planned.

About the author

Prof.Dr. Seref Aktas