osteochondritis dissecans—short stature—and early-onset osteoarthritis

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osteochondritis dissecans—short stature—and early-onset osteoarthritis2016-11-27T16:02:28+00:00

osteochondritis dissecans—short stature—and early-onset osteoarthritis

ORTHOPAEDICS

Definition An autosomal dominant form (OMIM:165800) of osteochondritis characterised by the separation of cartilage and subchondral bone from the surrounding tissue and multifocal osteochondritic lesions, primarily of the knees, ankles and elbow joints, disproportionate short stature and early-onset osteoarthritis.

Molecular pathology Defects of ACAN, which encodes aggrecan, a proteoglycan that is an integral part of the extracellular matrix in cartilage where it provides compressive resistance, cause osteochondritis dissecans—short stature—and early-onset osteoarthritis.

References http://www.uniprot.org/uniprot/P16112

http://www.omim.org/entry/165800

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