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Case homepage Dysmorphic features
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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 suspect?

Responses: choose the best one answer