Is it a new syndrome or a clinical variability in cerebro-oculo-nasal syndrome?

Semerci C., Zorlu P., Topal Y., Izbudak I., KARACAN C. D., Balci S.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, sa.2, ss.253-255, 2003 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: Sayı: 2
  • Basım Tarihi: 2003
  • Doi Numarası: 10.1002/ajmg.a.20232
  • Dergi Adı: AMERICAN JOURNAL OF MEDICAL GENETICS PART A
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.253-255
  • Hacettepe Üniversitesi Adresli: Hayır

Özet

We present a male infant 2.5-months old with asymmetric skull, anophthalmia, apparent hypertelorism, abnormal nares, unilateral cleft lip and palate, and structural abnormalities of the central nervous system. These findings are similar to cerebro-oculo-nasal syndrome except for the appearance of nose. This case is either a clinical variability in cerebro-oculo-nasal syndrome or a new entity. (C) 2003 Wiley-Liss, Inc.