Work

Kniest Dysplasia: New Radiographic Features in the Skeleton

Year: 2007

Type: article

Abstract: 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.

Source: Radiology Case Reports

DOI: 10.2484/rcr.v2i2.89

Authors: Catherine Maldjian, Felix S. Chew, Robert Klein, Akbar Bonakdarpour, James McCarthy, John Kelly

Institutions: Westchester Medical Center, University of Washington, Temple University Hospital

Language: English

Topic: Connective tissue disorders research

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $600