Radiological diagnosis of skeletal dysplasia

Abstract

The incidence of any particular skeletal dysplasia is thought to be low, but together all these diseases amount to approximately 1/1000, similar to Down syndrome. Recently, advanced diagnostic modalities such as CT scan, MRI, ultrasound and nuclear medicine play important roles in modern radiology. However, the usefulness of plain radiography has been unchanged for all skeletal dysplasias. In the first half of this review article, the author introduced the basic concepts of skeletal dysplasia, bone dysplasia family, and methodology of X-ray diagnosis. The second half of the article focused on particular radiological diagnosis of mucopolysaccharidoses (MPS) among skeletal dysplasias, especially the diagnosis of MPS-IV (Morquio syndrome). It is important to diagnose MPS-IV because a therapeutic drug has been established for this particular rare dysplasia.