Pediatric Education Online
You are a third year medical student completing a neonatology elective. One of your patients is a 15 day old infant named Julie who was born at 37 weeks gestational age. Her mother is a 34 year old caucasian woman G1P1 who had an uneventful prenatal history. She is a non-smoker and did not use alcohol, drugs or consume any prescription medications during her pregnancy. Julie was born via spontaneous vaginal delivery at 4lbs 10oz after an 8 hour labour. There were no complications.
On examination you notice that Julie has a flat facial profile, large tongue, slanted palpebral fissures, epicanthal folds and generalized hypotonia.
What diagnosis do you supsect?