Cat Eye Syndrome: Case Report (original) (raw)

2018, The journal of Tepecik Education and Research Hospital

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. Its 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 by the department of pediatric psychiatry. Karyotypic analysis was performed for cat eye syndrome, because of the presence of neuropsychiatric findings and eye / facial anomalies. DNA microarray analysis 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 analysis, and diagnosed with Cat-Eye Syndrome. Therefore, genetic analysis should be requested in case of clinical suspicion in atypical cases without classic triad.

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