How is OI diagnosed

OI is usually diagnosed as a result of family history and/or clinical observation. In most cases OI will be detected early on in a child’s life as a result of the child having a number of fractures.  In addition to this some key clinical observations may be present such as: Blue Sclerae (whites of the eyes) – this is a characteristic feature of OI Type 1 but is not present in all forms of OI. Opalescent teeth – again this is not always present in all types of OI Family history – understanding family history is a step in diagnosing OI, however in many cases there may be no family history of OI. Blood tests – taken to measure the level of calcium, phosphorus and an enzyme called serum alkaline phosphate (SAP). It is also used to exclude other causes of osteoporosis. Urine tests – these tests are undertaken to determine the level of bone breakdown and bone turnover. X-rays – a skull x-ray may indicate the presence of Wormian bones, which are extra bones in the skull of many OI patients. Bone density is also used to identify OI in patients. This is usually undertaken by a special x-ray machine called a DEXA scan. Genetic testing – This can also be undertaken to anaylse the particular genes that cause OI however, in most cases this is not conducted due to both the expense and time consuming nature of doing these tests.