3D Visualisation of the Radiological Features of Type II Collagenopathies Associated with Skeletal Dysplasias

Preceding this report, a proof-of-concept pilot study was conducted on the REAMS database. The REAMS database associates skeletal dysplasia (SD) and their conditions, clinical and radiographic features, with exemplar X-ray images. This study reports on the 3D visualisation of the interconnectedness of the various terms used in the REAMS database. Preliminary results show predictable clustering and outliers based on shared common terms. In 1994 Spranger et al. reported on the identification of the 6 type II collagenopathy conditions associated with SDs. To test the accuracy and usefulness of our 3D visualisation of the REAMS database the 6 known type II collagenopathies were colour coded to distinguish their location within the larger database. Distinct clustering was detected. However, we also discovered 10 non type II collagenopathy conditions that share 2 or more common clinical and/or radiographic features with at least 1 of the 6 known type II collagenopathy conditions. This result confirms and quantifies the clinical radiographical overlap among the type II collagenopathies as originally predicted by Spranger et al.