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Is it a new syndrome or a clinical variability in cerebro-oculo-nasal syndrome?
C Nur Semerci1, Pelin Zorlu, Yasar Topal
1Department of Genetics, Zübeyde Hanim Maternity Hospital, Ankara, Turkey. nsemerci@hotmail.com
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.
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