Spondylo-epiphysial dysplasia tarda with progressive arthropathy. A "new" disorder of autosomal recessive inheritance.

Fifteen patients with an inherited skeletal dysplasia which is considerably more crippling than the usual form of spondylo-epiphysial dysplasia tarda are presented. The disorder has a striking clinical, though not radiological, resemblance to rheumatoid arthritis but with the addition of platyspondyly. It has not previously been described, although it is possible that the case referred to by Maroteaux (1974) as “les dysplasies spondylo-#{233}piphyso-metaphysaires complexes” may be the same condition. The 15 patients came from nine families : four families were from the United Kingdom, four from Arab countries and one from Greece. The age of the affected members ranged from 8 years to 38 years. Comparing the frequency of this disorder with other skeletal dysplasias, it is estimated that the prevalance is likely to be about one per million in the United Kingdom, although this may be an underestimate, since some patients may well have been diagnosed as suffering from atypical rheumatoid arthritis.