Cat eye syndrome is

Correct Answer: Paial trisomy 22
Description: Cat eye syndrome:-Schmid Fraccaro syndrome Paial trisomy of chromosome 22. It is coined cat eye because of the paicular appearance of the veical colobomas in the eyes of some patients. Other features: 1. Anal atresia 2. Unilateral or bilateral iris coloboma 3. Downward slanting palpebral fissure. 4. Preauricular pits/ tags. 5. Cardiac defects 6. Kidney problems 7. Sho stature 8. Intellectual disabilityi 9. Micrognathia 10. Cleft palate Reference: GHAI Essential pediatrics, 8th edition
Category: Pediatrics
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