Congenital Diaphragmatic Hernia Overview

Abstract

The purpose of this overview is to increase the awareness of clinicians regarding congenital diaphragmatic hernia and its genetic causes and management. The following are the goals of this overview. Goal 1 Describe the clinical characteristics of congenital diaphragmatic hernia. Goal 2 Review the genetic causes of congenital diaphragmatic hernia. Goal 3 Provide an evaluation strategy to identify the genetic cause of congenital diaphragmatic hernia in a proband (when possible). Goal 4 Inform genetic counseling of family members of an individual with congenital diaphragmatic hernia. Goal 5 Review management of congenital diaphragmatic hernia.