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

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

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, no.2, pp.253-255, 2003 (SCI-Expanded)

• Publication Type: Article / Article
• Volume: Issue: 2
• Publication Date: 2003
• Doi Number: 10.1002/ajmg.a.20232
• Journal Name: AMERICAN JOURNAL OF MEDICAL GENETICS PART A
• Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
• Page Numbers: pp.253-255
• Hacettepe University Affiliated: No

Abstract

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.