Purpose or Case Report: The skeletal dysplasias are a large diverse group of several hundred disorders which are marked by abnormal bone and cartilage growth with resultant short stature. Dysplasias have been divided into larger groups according to common radiographic and/or genetic mutations. The purpose of this educational exhibit is to highlight one of these major groups, which are characterized by mutations of type 2 collagen.
Methods & Materials: This exhibit will provide examples of several different disorders of type 2 collagen, highlighting clinical and radiographic features. There will also be discussion of other common skeletal dysplasias which have similar features to the type 2 collagenopathies.
Results: The observer will become more familiar with the spectrum of disorders characterized by type 2 collagen disorders, to include the lethal hypochondrogenesis and achondrogenesis type 2, moderately severe Kneist dysplasia, spondyloepiphyseal dysplasia congenita (SEDC), spondyloepimetaphyseal dysplasia (SEMD) Strudwick type, and milder forms such as Stickler syndrome. Radiographic and clinical features of type 2 collagen disorders will be contrasted with mucopolysaccharidoses such as Morquio syndrome and metatropic dysplasia, both of which can share a similar radiographic appearances.
Conclusions: As the skeletal dysplasias are a large diverse set of entities, the radiologist may be overwhelmed by the sheer number of disorders to be mastered. Previous educational exhibits have reviewed common radiographic features and nomenclature to be used in the interpretation of skeletal surveys for skeletal dysplasias, highlighting commonly encountered dysplasias over a wide range of categories. This exhibit will allow the observer to become more familiar with one of the more common groups within the skeletal dysplasias, those characterized by mutations in type 2 collagen.