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.

Original languageUndefined/Unknown
Pages (from-to)82-83
Number of pages2
JournalGazi Medical Journal
Volume19
Issue number2
StatePublished - Jun 1 2008
Externally publishedYes

Fingerprint

Chromosome Disorders
Imperforate Anus
Cardiovascular Abnormalities
Hypertelorism
Coloboma
Fetal Growth Retardation
Eyelids
Karyotype
Intellectual Disability
Ear
Parturition
Kidney
Skin
Schmid-Fraccaro syndrome
Trisomy Chromosome 22

Keywords

  • Anal atresia
  • Cardiac
  • Cat eye syndrome
  • Karyotype

ASJC Scopus subject areas

  • Medicine(all)

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.

Cat eye sendromu : Olgu sunumu. / Arhan, Ebru; Kanmaz, H. Gözde; Ekici, Filiz; Ünal, Sevim; Şenel, Emrah; Tekin, Mustafa.

In: Gazi Medical Journal, Vol. 19, No. 2, 01.06.2008, p. 82-83.

Research output: Contribution to journalArticle

Arhan, E, Kanmaz, HG, Ekici, F, Ünal, S, Şenel, E & Tekin, M 2008, 'Cat eye sendromu: Olgu sunumu', Gazi Medical Journal, vol. 19, no. 2, pp. 82-83.
Arhan E, Kanmaz HG, Ekici F, Ünal S, Şenel E, Tekin M. Cat eye sendromu: Olgu sunumu. Gazi Medical Journal. 2008 Jun 1;19(2):82-83.
Arhan, Ebru ; Kanmaz, H. Gözde ; Ekici, Filiz ; Ünal, Sevim ; Şenel, Emrah ; Tekin, Mustafa. / Cat eye sendromu : Olgu sunumu. In: Gazi Medical Journal. 2008 ; Vol. 19, No. 2. pp. 82-83.
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