[Diagnostic imaging in the congenital and developmental disorders: before and after advancement of molecular...

In this review, a general approach to the congenital and genetic disorders is presented. Differentiation between deformation and malformation is practically important to triage congenial or developmental abnormalities. The disease distribution along arterial supply or sclerotome is more suggestive of developmental or acquired disorder, either in utero or in early infancy. Newly developed genetic analysis of bone dysplasia is an important subject, and this review focuses on collagen abnormalities, systemic disorders associated with neoplasms and receptor disorders. Owing to the progress of molecular genetics and gene therapy, the approach to hereditary conditions will dramatically change. Although most of these diseases are relatively uncommon, the role of diagnostic radiologist may become more important for early institution of treatment planning and estimating prognosis.