Cat eye syndrome: Case report Cat eye sendromu: Olgu sunumu

Arhan E., Kanmaz H. G., Ekici F., ÜNAL S., Şenel E., Tekin M.

Gazi Medical Journal, cilt.19, sa.2, ss.82-83, 2008 (Scopus) identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 19 Sayı: 2
  • Basım Tarihi: 2008
  • Dergi Adı: Gazi Medical Journal
  • Derginin Tarandığı İndeksler: Scopus, TR DİZİN (ULAKBİM)
  • Sayfa Sayıları: ss.82-83
  • Anahtar Kelimeler: Anal atresia, Cardiac, Cat eye syndrome, Karyotype
  • Lokman Hekim Üniversitesi Adresli: Hayır

Özet

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.