Seminars in Pediatric Surgery
Volume 16, Issue 2 , Pages 88-93, May 2007

Genetics of congenital diaphragmatic hernia

  • Daryl A. Scott, MD, PhD

      Affiliations

    • Corresponding Author InformationAddress reprint requests and correspondence: Daryl A. Scott, MD, PhD, 633E, One Baylor Plaza, Houston, TX 77030.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.

Congenital diaphragmatic hernia (CDH) is a common structural birth defect that affects approximately 1 in 2500 live births. Although the exact etiology of most cases of CDH remains unknown, it is becoming increasingly clear that genetic factors play an important role in many cases of CDH. In this paper, we review critical findings in the areas of clinical and basic research that highlight the importance of genetics in the development of CDH. We also provide practical information that can aid physicians and surgeons as they evaluate and care for patients with isolated, nonisolated, and syndromic forms of CDH and their families.

Keywords: Diaphragm, Diaphragmatic hernia, Chromosomal abnormalities, Retinoic acid, Mouse models, Genetic syndromes

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PII: S1055-8586(07)00004-2

doi:10.1053/j.sempedsurg.2007.01.003

Seminars in Pediatric Surgery
Volume 16, Issue 2 , Pages 88-93, May 2007

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