Inherited diseases of the connective tissue

The heritable disorders of connective tissue constitute a very heterogeneous group that has proved to be difficult to handle with regard to diagnostic criteria, nomenclature, and classification. Some of those disorders can be characterized on clinical grounds and some through specific molecular abnormalities. In the great majority, the basic defect is still unknown despite the growing interest and effort of the investigators. Beighton et al. [1] provide a comprehensive yet concise report on the state of the art in this field. Practical issues such as diagnostic criteria, differential diagnosis, and delineation of syndrome boundaries are discussed schematically for the benefit of the general pediatrician and physician.