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Familial osteochondritis dissecans associated with early osteoarthritis and disproportionate short stature
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Genetics and Pathology.
2008 (English)In: Osteoarthritis and Cartilage, ISSN 1063-4584, Vol. 16, no 8, 890-6 p.Article in journal (Refereed) Published
Abstract [en]

OBJECTIVE: Familial osteochondritis dissecans (OCD) is a rare disorder characterised by disturbed chondro-skeletal development, disproportionate growth and deformation of the skeleton. DESIGN: We identified a five-generation family with 15 living affected members from Northern Sweden. The disorder was diagnosed with a case definition of OCD in at least one joint. RESULTS: Main clinical findings consisted of OCD in knees and/or hips and/or elbows, disproportionate short stature and early osteoarthritis (OA). There were no radiological indications of epiphyseal dysplasia. Anthropometric measurements of affected individuals showed short stature, a high ratio between sitting height and total height, a relatively normal arm span and head circumference. In 12 of 15 cases, onset was during late childhood or adolescence and OA had developed in seven of those patients. CONCLUSIONS: Our observation suggests that OA is a frequent complication in familial OCD even though the lesions appear before closure of physis.

Place, publisher, year, edition, pages
2008. Vol. 16, no 8, 890-6 p.
Keyword [en]
Familial osteochondritis dissecans, Osteoarthritis, Skeletal dysplasia, Autosomal dominant, Cartilage
National Category
Medical and Health Sciences
URN: urn:nbn:se:uu:diva-102945DOI: 10.1016/j.joca.2007.11.009ISI: 000258441900005PubMedID: 18226555OAI: oai:DiVA.org:uu-102945DiVA: diva2:217090
Available from: 2009-05-13 Created: 2009-05-13 Last updated: 2009-10-08Bibliographically approved

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