Diagnostic stage of malformations

Diagnosis begins with a physical examination to determine the site of the deformity. The movement of the joints around the bones at the site of the deformity is examined.

Radiological evaluation of the existing area is then performed. Although X-rays are sufficient at this stage, three-dimensional evaluation using computed tomography (CT) is sometimes used when evaluating complex deformities or planning surgery. Blood parameters related to bone development and metabolism, such as calcium and phosphorus, can also be analysed. Detailed blood tests are performed for suspected conditions. Depending on the severity of the problem, the patient is referred to the endocrinology department and sometimes to the genetics department. In co-operation with these departments, the patient’s condition will be evaluated with regard to criteria such as whether it is congenital and whether it is due to hormone deficiencies, and treatment will be determined on the basis of this information.