Congenital Diaphragmatic Hernia Overview

Mauro Longoni; Barbara R Pober; Frances A High

Congenital Diaphragmatic Hernia Overview

Review

In: GeneReviews^® [Internet]. Seattle (WA): University of Washington, Seattle; 1993.

2006 Feb 1 [updated 2020 Nov 5].

Authors

Mauro Longoni¹, Barbara R Pober², Frances A High³

Book Editors

Margaret P Adam, Jerry Feldman, Ghayda M Mirzaa, Roberta A Pagon, Stephanie E Wallace, Lora JH Bean, Karen W Gripp, Anne Amemiya

Affiliations

¹ Assistant Professor of Surgery, Harvard Medical School, Assistant, Massachusetts General Hospital, Boston, Massachusetts
² Pediatrician, MassGeneral Hospital for Children, Professor Emeritus of Pediatrics, Harvard Medical School, Boston, Massachusetts
³ Division of Medical Genetics, MassGeneral Hospital for Children, Department of Surgery, Boston Children’s Hospital, Boston, Massachusetts

PMID: 20301533
Bookshelf ID: NBK1359

Excerpt

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.

Sections

Publication types

Review