Research Information System
Gazi Medical Journal, vol.19, no.2, pp.82-83, 2008 (Scopus)
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.