Maternal systemic lupus erythematosus and chondrodysplasia punctata in two sibs: phenocopy or coincidence?

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Elcioglu N., Hall C.

JOURNAL OF MEDICAL GENETICS, vol.35, no.8, pp.690-694, 1998 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 35 Issue: 8
  • Publication Date: 1998
  • Doi Number: 10.1136/jmg.35.8.690
  • Journal Name: JOURNAL OF MEDICAL GENETICS
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.690-694
  • Keywords: systemic lupus erythematosus, chondrodysplasia punctata, metacarpal type, brachytelephalangic type
  • Open Archive Collection: AVESIS Open Access Collection
  • Marmara University Affiliated: No

Abstract

Two sibs with chondrodysplasia punctata in whom the mother was suffering from systemic lupus erythematosus are presented and the radiological features described. Comparison with other forms of chondrodysplasia punctata with a review of the relevant publications is presented and the possible asscociation with maternal systemic lupus erythematosus is highlighted.