Join
Abstract
Stephania and Nikolaus Stamos are concerned about their baby daughter. They take her to her pediatrician, who immediately notices that the once bright and active child is small for her age, pale, lethargic, and has a swollen abdomen. Students examine symptoms and test results to identify the genetic disorder that the little girl is suffering from. The case would be appropriate for use in a physiology course, and could be adapted for use in a course in cell biology, biochemistry, or genetics (see the related "Genetics Edition").