Skeletal dysplasias and the osteoarthritic phenotype.
In contrast to late-onset osteoarthritis (OA), the appearance of precocious OA has historically been recognized as a particularly aggressive form of the disorder that is frequently inherited as a Mendelian trait. In general, precocious OA appears as a consequence of many skeletal dysplasias, which, although individually rare, comprise a sizable population of patients when viewed in toto. In these patients the disease is often rapidly progressive and includes features of articular and extra-articular involvement that are not typical of classic OA. The molecular pathology of the chondro-osseous disorders has been the focus of intense study in recent years, with the promise of providing insight into skeletal development and homeostasis, as well as the aetiology and pathogenesis of degenerative joint disease.
Williams
Charlene J
CJ
Department of Medicine, Division of Rheumatology, Thomas Jefferson University, 233 S. 10th Street Room 509 BLSB, Philadelphia, PA 19107, USA.
Jimenez
Sergio A
SA
D006801:Humans; D010003:Osteoarthritis / Q000235:genetics*; D010009:Osteochondrodysplasias / Q000150:complications* / Q000235:genetics*; D010641:Phenotype; D013577:Syndrome