Abstract

Cat Eye Syndrome (CES) or Schmid-Fracccaro syndrome is a genetic disorder characterized by mutations in the long arm of chromosome 22, first described by Schachenmann et al. in 1965. The classic triad consists of iris coloboma, anal malformation and ear anomalies. In this case, a 3-year-old male patient with a 30-second tonic clonic seizure was presented. On physical examination, he had downslanting palpebral fissures, micrognathia and microphthalmia. His family told that he was monitored with mild retardation in cognitive development in child psychiatrist. DNA microarray analysis was performed for Cat Eye Syndrome, due to neuropsychiatric findings and eye / facial features. It revealed a gain involving 3 OMIM genes in the 22q11.1 region of about 548 Kb was detected. In this case, there were no major anomalies, but followed by genetic consequence he was diagnosed with Cat-Eye Syndrome. Therefore, genetic analysis should be requested in case of clinical suspicion in atypical cases in which there is no classic triad.