Summary of Prader-Willi syndrome
Flashcards on Prader-Willi syndrome
Prader-Willi syndrome is a genetic imprinting disorder resulting from gene deletion and presenting with hyperphagia, obesity, intellectual disability, hypotonia, and hypogonadism.
Questions on Prader-Willi syndrome
A 7-year-old boy with short stature and obese body habitus is brought to his pediatrician for an annual check up. His mother states that he has been doing well in school since he began an individualized education plan. However, he continues to gain weight, and she confesses that she might have been overfeeding him because when he was younger, he was a poor feeder and a floppy baby. She has been trying to restrict his diet, unsuccessfully, as her son will guilt his grandmother into feeding him. Physical examination shows the patient has failed to reach developmental milestones for his age, and his hands and feet appear to be small in proportion to his body. In addition the patient shows evidence of cognitive delay. Which of the following is the best diagnostic test to confirm the underlying cause of the patient's obesity?