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, cilt.35, sa.8, ss.690-694, 1998 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 35 Sayı: 8
  • Basım Tarihi: 1998
  • Doi Numarası: 10.1136/jmg.35.8.690
  • Dergi Adı: JOURNAL OF MEDICAL GENETICS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.690-694
  • Anahtar Kelimeler: systemic lupus erythematosus, chondrodysplasia punctata, metacarpal type, brachytelephalangic type
  • Marmara Üniversitesi Adresli: Hayır

Özet

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.