Osteoarthritis at Young Age, a Diagnostic Challenge: A Case of Stickler Syndrome
Isabelle de Wergifosse*, Rene Westhovens
Identifiers and Pagination:Year: 2014
First Page: 100
Last Page: 102
Publisher ID: TORJ-8-100
Article History:Received Date: 21/8/2014
Revision Received Date: 13/10/2014
Acceptance Date: 12/11/2014
Electronic publication date: 19 /12/2014
Collection year: 2014
open-access license: This is an open access article licensed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0/) which permits unrestricted, non-commercial use, distribution and reproduction in any medium, provided the work is properly cited.
A young woman presents with severe polyarticular osteoarthritis with relevant family history potentially suggesting a hereditary disease. Previously, the patient’s mother had been diagnosed with rheumatoid arthritis and reported to have suffered from some locomotor problems. Careful clinical evaluation with an extensive personal and familial history pointed towards a diagnosis of Stickler syndrome, an autosomal dominant condition with progressive arthro-ophthalmopathy, (early osteoarthritis and myopia). Following this timely diagnosis, genetic counselling was offered.