PAED-0425

A 10-month-old girl is brought to the hospital with a history of atrial septal defect and duplex kidneys and has had a successful repair of her cleft lip and palate. A cranial ultrasound scan revealed multiple choroid plexus cysts. On examination, you find a small child with micrognathia, low-set ears, and a prominent forehead and occiput. She has hypoplastic nails with an overlapping index and middle finger. Her rocker-bottom feet show no evidence of lymphoedema. Cardiovascular examination reveals a short sternum with a 2/6 pan-systolic murmur at the upper left sternal edge radiating to the apex. Which of the following is the most probable diagnosis for this patient?