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 journalArticle

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

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Nose
Anophthalmos
Hypertelorism
Cleft Lip
Cleft Palate
Skull
Central Nervous System

Keywords

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

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

Semerci, C. N., Zorlu, P., Topal, Y., Izbudak, I., Karacan, C., & Balci, S. (2003). Is it a new syndrome or a clinical variability in cerebro-oculo-nasal syndrome? American Journal of Medical Genetics, 120 A(2), 253-255.

Is it a new syndrome or a clinical variability in cerebro-oculo-nasal syndrome? / Semerci, C. Nur; Zorlu, Pelin; Topal, Yasar; Izbudak, Izlem; Karacan, Candemir; Balci, Sevim.

In: American Journal of Medical Genetics, Vol. 120 A, No. 2, 15.07.2003, p. 253-255.

Research output: Contribution to journalArticle

Semerci, CN, Zorlu, P, Topal, Y, Izbudak, I, Karacan, C & Balci, S 2003, 'Is it a new syndrome or a clinical variability in cerebro-oculo-nasal syndrome?', American Journal of Medical Genetics, vol. 120 A, no. 2, pp. 253-255.
Semerci, C. Nur ; Zorlu, Pelin ; Topal, Yasar ; Izbudak, Izlem ; Karacan, Candemir ; Balci, Sevim. / Is it a new syndrome or a clinical variability in cerebro-oculo-nasal syndrome?. In: American Journal of Medical Genetics. 2003 ; Vol. 120 A, No. 2. pp. 253-255.
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