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., ...Daha Fazla

TURKISH JOURNAL OF PEDIATRICS, cilt.44, sa.3, ss.269-273, 2002 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 44 Sayı: 3
  • Basım Tarihi: 2002
  • Dergi Adı: TURKISH JOURNAL OF PEDIATRICS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.269-273
  • Gazi Üniversitesi Adresli: Evet

Özet

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.