Congenital skeletal abnormalities: an introduction to the radiological semiology

Despite the recent advances in the molecular diagnosis of congenital abnormalities, the initial identification and the decision to refer a patient for further molecular analysis and expensive genetic tests still relies frequently on clinical and radiological criteria. The radiological identification of syndromes, dwarfs and dysplasias is a difficult task, because there are so many findings to consider and so many syndromes to remember that the problem is overwhelming. There is a definite need for an easy and systematic analysis system, in order to try to categorize a skeletal dysplasia in a certain group. In this brief review, we suggest an approach to the evaluation of skeletal syndromes, based on the analysis of cardinal criteria, from which the most useful information is derived, and additional criteria, making further differentiation possible. Generally, cardinal information is derived from analysis of the long bones, hands, pelvis and the spine, whereas the analysis of other skeletal elements, like the skull, feet, and other flat bones is of additional value.