Literature DB >> 12833409

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

C Nur Semerci1, Pelin Zorlu, Yasar Topal, Izlem Izbudak, Candemir Karacan, Sevim Balci.   

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. Copyright 2003 Wiley-Liss, Inc.

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Year:  2003        PMID: 12833409     DOI: 10.1002/ajmg.a.20232

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN: 1552-4825            Impact factor:   2.802


  1 in total

1.  Ano/microphthalmia, ocular cysts, central nervous system malformations, and neuropsychological delay. Diagnostic considerations on 2 Brazilian patients.

Authors:  Maria Leine Guion-Almeida; Siulan Vendramini-Pittoli; Antonio Richieri-Costa
Journal:  Clin Ophthalmol       Date:  2007-06
  1 in total

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