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

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

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish (US)
Pages (from-to)253-255
Number of pages3
JournalAmerican Journal of Medical Genetics
Volume120 A
Issue number2
StatePublished - Jul 15 2003
Externally publishedYes

Keywords

  • Anophthalmia
  • Arachnoid cyst
  • Cerebro-oculo-nasal syndrome
  • Corpus callosumagenesis
  • Interhemispheric lipoma

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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