Sökning: onr:"swepub:oai:DiVA.org:uu-102945" >
Familial osteochond...
Familial osteochondritis dissecans associated with early osteoarthritis and disproportionate short stature
-
- Stattin, Eva-Lena, 1960- (författare)
- Umeå universitet,Medicinsk och klinisk genetik
-
- Tegner, Yelverton (författare)
- Luleå tekniska universitet,Medicinsk vetenskap,Department of Health Sciences, Luleå Technical University, Sweden
-
- Domellöf, Magnus (författare)
- Umeå universitet,Pediatrik
-
visa fler...
-
- Dahl, Niklas (författare)
- Uppsala universitet,Institutionen för genetik och patologi,Department of Genetics and Pathology, The Rudbeck Laboratory, Uppsala University, Sweden.
-
visa färre...
-
(creator_code:org_t)
- London : Elsevier BV, 2008
- 2008
- Engelska.
-
Ingår i: Osteoarthritis and Cartilage. - London : Elsevier BV. - 1063-4584 .- 1522-9653. ; 16:8, s. 890-6
- Relaterad länk:
-
http://www.oarsijour...
-
visa fler...
-
https://urn.kb.se/re...
-
https://doi.org/10.1...
-
https://urn.kb.se/re...
-
https://urn.kb.se/re...
-
visa färre...
Abstract
Ämnesord
Stäng
- 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.
Ämnesord
- MEDICIN OCH HÄLSOVETENSKAP -- Hälsovetenskap -- Annan hälsovetenskap (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Health Sciences -- Other Health Sciences (hsv//eng)
Nyckelord
- Familial osteochondritis dissecans
- Osteoarthritis
- Skeletal dysplasia
- Autosomal dominant
- Cartilage
- MEDICINE
- MEDICIN
- Health Science
Publikations- och innehållstyp
- ref (ämneskategori)
- art (ämneskategori)
Hitta via bibliotek
Till lärosätets databas