Samantha A. Schrier Vergano, MD, FAAP, FACMG

What’s behind this father and son’s photophobia?

An 8 year-old boy who recently emigrated from El Salvador was referred initially to a rheumatologist for concerns of arthrogryposis multiplex congenita, specifically with contractures of the distal...

An 8-year-old boy presented to his pediatrician with a grossly enlarged abdomen and a several-month history of worsening abdominal pain, tightness, and discomfort, but with no nausea or vomiting.

A 1-day-old term African American female was found to have localized edema of her right middle finger during her newborn examination.