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.