Progressive pseudorheumatoid dysplasia

Report of a family and review

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

Research output: Contribution to journalArticle

48 Citations (Scopus)

Abstract

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
Volume34
Issue number7
Publication statusPublished - 1997
Externally publishedYes

Fingerprint

Osteochondrodysplasias
Jordan
Bone Diseases
Articular Cartilage
Names
Rheumatoid Arthritis
Spine
Differential Diagnosis
Genes
Arthropathy, progressive pseudorheumatoid, of childhood

Keywords

  • 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.

Progressive pseudorheumatoid dysplasia : Report of a family and review. / El-Shanti, Hatem E.; Omari, Hamzi Z.; Qubain, Hani I.

In: Journal of Medical Genetics, Vol. 34, No. 7, 1997, p. 559-563.

Research output: Contribution to journalArticle

El-Shanti, HE, Omari, HZ & Qubain, HI 1997, 'Progressive pseudorheumatoid dysplasia: Report of a family and review', Journal of Medical Genetics, vol. 34, no. 7, pp. 559-563.
El-Shanti, Hatem E. ; Omari, Hamzi Z. ; Qubain, Hani I. / Progressive pseudorheumatoid dysplasia : Report of a family and review. In: Journal of Medical Genetics. 1997 ; Vol. 34, No. 7. pp. 559-563.
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