Kniest Dysplasia: New Radiographic Features in the Skeleton

OBJECTIVE To describe skeletal findings in patients with Kniest dysplasia, focusing on osseous abnormalities that have not been characteristically associated with this disorder. MATERIALS AND METHODS This was a retrospective study. The radiographs of four patients with known Kniest Dysplasia were evaluated by three musculoskeletal radiologists. RESULTS Bilateral radial head dislocations and bilateral clubfeet were seen in our series. Other characteristic findings for this dysplasia were seen in all four patients. CONCLUSIONS Clubfeet and radial head dislocations may be associated with Kniest dysplasia. The presence of these osseous findings in the context of multiple skeletal abnormalities suggestive of a skeletal dysplasia should indicate the possibility of Kniest dysplasia and pathognomonic features for this entity should be sought.