Cat eye sendromu: Olgu sunumu

Translated title of the contribution: Cat eye syndrome: Case report

Ebru Arhan, H. Gözde Kanmaz, Filiz Ekici, Sevim Ünal, Emrah Şenel, Mustafa Tekin

Research output: Contribution to journalArticle

Abstract

Cat eye syndrome is a rare chromosomal disorder that may be evident at birth. Karyotype analysis reveals trisomy 22. Associated symptoms and findings may vary greatly in range and severity, including those among affected members of the same family. In many cases, characteristic features of the disorder include mild intrauterine growth retardation; mild mental deficiency; and craniofacial, cardiac, renal, and anal malformations. Specifically, individuals with cat eye syndrome frequently have colobomas, downslanting palpebral fissures, hypertelorism, and/or other ocular defects, misshapen ears, and preauricular tags. We report a 6-month-old female patient with major and minor findings of cat eye syndrome, including bilateral skin tags, atypical facial appearance, cardiovascular abnormalities, and anal atresia.

Translated title of the contributionCat eye syndrome: Case report
Original languageTurkish
Pages (from-to)82-83
Number of pages2
JournalGazi Medical Journal
Volume19
Issue number2
StatePublished - Jun 1 2008
Externally publishedYes

Keywords

  • Anal atresia
  • Cardiac
  • Cat eye syndrome
  • Karyotype

ASJC Scopus subject areas

  • Medicine(all)

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  • Cite this

    Arhan, E., Kanmaz, H. G., Ekici, F., Ünal, S., Şenel, E., & Tekin, M. (2008). Cat eye sendromu: Olgu sunumu. Gazi Medical Journal, 19(2), 82-83.