Molecular Mechanisms Contributing to the Etiology of Congenital Diaphragmatic Hernia: A Review and Novel Cases

Olivia L Katz; K Taylor Wild; Deborah McEldrew; Maninder Kaur; Sarah Raible; Cara M Skraban; Elaine H Zackai; Livija Medne; Kosuke Izumi; Sierra Fortunato; Jamila Weatherly; Tiffiney Hartman; Paul Deppen; Justin Blair; Batsal Devkota; Emma Schindler; Holly L Hedrick; William Peranteau; Ian D Krantz

doi:10.1016/j.jpeds.2022.03.023

Molecular Mechanisms Contributing to the Etiology of Congenital Diaphragmatic Hernia: A Review and Novel Cases

J Pediatr. 2022 Jul:246:251-265.e2. doi: 10.1016/j.jpeds.2022.03.023. Epub 2022 Mar 18.

Authors

Olivia L Katz¹, K Taylor Wild², Deborah McEldrew³, Maninder Kaur³, Sarah Raible³, Cara M Skraban⁴, Elaine H Zackai⁴, Livija Medne³, Kosuke Izumi⁴, Sierra Fortunato³, Jamila Weatherly³, Tiffiney Hartman³, Paul Deppen³, Justin Blair³, Batsal Devkota⁵, Emma Schindler³, Holly L Hedrick⁶, William Peranteau⁶, Ian D Krantz⁷

Affiliations

¹ Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA; Division of Human Genetics, Roberts Individualized Medical Genetics Center, The Children's Hospital of Philadelphia, Philadelphia, PA.
² Division of Human Genetics, Roberts Individualized Medical Genetics Center, The Children's Hospital of Philadelphia, Philadelphia, PA; Division of Neonatology, The Children's Hospital of Philadelphia, Philadelphia, PA.
³ Division of Human Genetics, Roberts Individualized Medical Genetics Center, The Children's Hospital of Philadelphia, Philadelphia, PA.
⁴ Division of Human Genetics, Roberts Individualized Medical Genetics Center, The Children's Hospital of Philadelphia, Philadelphia, PA; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA.
⁵ Division of Human Genetics, Roberts Individualized Medical Genetics Center, The Children's Hospital of Philadelphia, Philadelphia, PA; Department of Biomedical and Health Informatics, The Children's Hospital of Philadelphia, Philadelphia, PA.
⁶ Center for Fetal Research, The Children's Hospital of Philadelphia, Philadelphia, PA; Department of Surgery, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA.
⁷ Division of Human Genetics, Roberts Individualized Medical Genetics Center, The Children's Hospital of Philadelphia, Philadelphia, PA; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA. Electronic address: krantz@chop.edu.

PMID: 35314152
DOI: 10.1016/j.jpeds.2022.03.023

No abstract available

Keywords: CDH; CDH genetics; MED14; STAG2; complex CDH; congenital diaphragmatic hernia; diaphragm development; isolated CDH; syndromic CDH; trisomy 12p.

Publication types

Case Reports
Review
Research Support, Non-U.S. Gov't

MeSH terms

Chromosome Aberrations
Diaphragm
Hernias, Diaphragmatic, Congenital* / etiology
Humans
Infant, Newborn