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 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 44 Issue: 3
  • Publication Date: 2002
  • Journal Name: TURKISH JOURNAL OF PEDIATRICS
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.269-273
  • Hacettepe University Affiliated: No

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.