Pediatric Pearls. Trisomy 21: Findings on the Physical Examination

February 27, 2024

I recently cared for an infant admitted to the Post Partum Unit with a concern for Down Syndrome. My resident team and I had an interesting discussion on what we should look for on the physical examination.

Down Syndrome, or Trisomy 21, is a genetic disorder that affects about 1 in 700 newborns in the United States. It was first described in 1862 when Dr…