Radiologic nosology of bone dysplasias

The usefulness of radiodiagnostics in the delineation of bone dysplasias is exemplified by an attempt to classify the lethal osteochondrodysplasias. Based on morphologic criteria these disorders are subdivided into 11 major categories. Within these categories pathogenetically related bone dysplasia families can be discerned. Radiology meets its limits when different mutations lead to identical or overlapping phenotypes. In the future radiology will keep its prominent place in the diagnosis and nosology of inborn errors of skeletal development because of its ready availability, speed, non-invasiveness, and discriminating power. As shown by disorders such as metatropic dysplasia or iduronidase deficiency, radiology is most important to evaluate the prognosis of a given condition.