Page Contents
- 1 WHAT IS IT?
- 2 WHAT CAUSES IT?
- 3 WHY IS IT A PROBLEM?
- 4 WHAT MAKES US SUSPECT IT?
- 5 CLINICAL WORKUP
- 6 AT WHAT POINT DO WE CONFIDENT IN MAKING THE DIAGNOSIS?
- 7 WHAT ELSE ARE WE WORRIED ABOUT?
- 8 HOW DO WE TREAT IT?
- 9 HOW WELL DO THE PATIENTS DO?
- 10 WAS THERE A WAY TO PREVENT IT?
- 11 OTHER FACTS?
- 12 ARCHIVE OF STANDARDIZED EXAM QUESTIONS
- 13 FURTHER READING
WHAT IS IT?
Prader-Willi syndrome is a genetic disorder.
WHAT CAUSES IT?
It is caused by a defect in the long arm of chromosome 15.
WHY IS IT A PROBLEM?
WHAT MAKES US SUSPECT IT?
Risk factors
Initial Presentation
- Intellectual disability
History Of Present Illness
During infancy patient will often be underweight and have hypotonia
During childhood patient will have an increased appetite and obesity.
Physical Exam Findings
CLINICAL WORKUP
AT WHAT POINT DO WE CONFIDENT IN MAKING THE DIAGNOSIS?
WHAT ELSE ARE WE WORRIED ABOUT?
HOW DO WE TREAT IT?
HOW WELL DO THE PATIENTS DO?
WAS THERE A WAY TO PREVENT IT?
OTHER FACTS?
ARCHIVE OF STANDARDIZED EXAM QUESTIONS
This archive compiles standardized exam questions that relate to this topic.
FURTHER READING
DynaMed
UpToDate
Page Updated: 09.03.2016