Progressive pseudorheumatoid dysplasia: Report of a family and review

Hatem E. El-Shanti, Hamzi Z. Omari, Hani I. Qubain

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    Progressive pseudorheumatoid dysplasia is an inherited skeletal dysplasia with radiographic changes notably in the spine, similar to spondyloepiphyseal dysplasia tarda. There is also articular cartilage involvement which gives it some clinical resemblance to rheumatoid arthritis. We report here on six subjects from one inbred family from Jordan. Based on previously published reports and this one, we review the clinical and radiological features and discuss the genetics and differential diagnosis of the disorder. We suggest the addition of the word 'spondyloepiphyseal' to the name adopted by the International Working Group on Constitutional Diseases of Bone, to become 'progressive pseudorheumatoid spondyloepiphyseal dysplasia'. We also speculate on candidate genes for this disorder.

    Original languageEnglish
    Pages (from-to)559-563
    Number of pages5
    JournalJournal of medical genetics
    Issue number7
    Publication statusPublished - 9 Aug 1997



    • Dysplasia
    • Genu varum
    • Platyspondyly
    • Pseudorheumatoid

    ASJC Scopus subject areas

    • Genetics
    • Genetics(clinical)

    Cite this

    El-Shanti, H. E., Omari, H. Z., & Qubain, H. I. (1997). Progressive pseudorheumatoid dysplasia: Report of a family and review. Journal of medical genetics, 34(7), 559-563.