Cerebro-oculo-facio-skeletal syndrome: report of two cases from Turkey with postmortem findings


Semerci C., Onat N., Gunce S., Demirel N., Becer M., Yilmazer Y., ...More

TURKISH JOURNAL OF PEDIATRICS, vol.44, no.3, pp.269-273, 2002 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 44 Issue: 3
  • Publication Date: 2002
  • Title of Journal : TURKISH JOURNAL OF PEDIATRICS
  • Page Numbers: pp.269-273

Abstract

We describe two cases of COFS (cerebro-oculo-facio-skeletal) syndrome in two newborn females of consanguineous parents. The clinical, radiological and pathological features of the patients are presented. One of the two cases had 11 pairs of ribs (Case 1) and the other had three-lobed left lung (Case 2), neither of which has been described in COFS syndrome previously. To, our knowledge, these are the first reported cases of COFS syndrome from Turkey.