Summary
A family is presented with three affected siblings suffering from a rare form of spondyloepiphyseal dysplasia with progressive arthropathy affecting most joints of the body except for the craniofacial skeleton. This syndrome, probably of autosomal recessive inheritance, clinically presents diffuse and chronic joint involvement and should be differentiated from juvenile rheumatoid arthritis and other rheumatic disorders.
Zusammenfassung
Es wird eine Familie mit 3 betroffenen Geschwistern beschrieben, die an einer seltenen Form einer spondylo-epiphysären Dysplasie mit fortschreitender Arthropathie leiden. Dabei sind die meisten Gelenke des Körpers, außer denen des Schädel-Gesichtsskeletts betroffen. Dieses Syndrom, wahrscheinlich von autosomal rezessivem Erbgang, muß wegen seiner arthritischen Symptomatik von einer juvenilen rheumatoiden Arthritis und anderen rheumatischen Leiden abgegrenzt werden.
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Robinson, D., Tieder, M., Halperin, N. et al. Spondyloepiphyseal dysplasia associated with progressive arthropathy. Arch Orthop Trauma Surg 108, 397–399 (1989). https://doi.org/10.1007/BF00932456
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DOI: https://doi.org/10.1007/BF00932456