| Literature DB >> 8275575 |
E Legius1, M Mulier, B Van Damme, J P Fryns.
Abstract
Two brothers and a sister presented with spondyloepiphyseal dysplasia and progressive arthropathy. Stiffness and restricted mobility of several large joints had been present since childhood. Their adult height was normal, and skeletal radiography showed mild platyspondyly, abnormal epiphyses and severe osteoarthrosis with extensive synovial osteochondromatosis. This autosomal recessive type of spondyloepiphyseal dysplasia tarda must be distinguished from other forms of spondyloepiphyseal dysplasia, rheumatoid arthritis in childhood and osteoarthrosis in adults.Entities:
Mesh:
Year: 1993 PMID: 8275575 DOI: 10.1111/j.1399-0004.1993.tb03868.x
Source DB: PubMed Journal: Clin Genet ISSN: 0009-9163 Impact factor: 4.438