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Front Genet. 2021 Jun 07;12:674722. doi: 10.3389/fgene.2021.674722. eCollection 2021.

Diaphragmatic Hernia as a Prenatal Feature of Glycosylphosphatidylinositol Biosynthesis Defects and the Overlap With Fryns Syndrome - Literature Review.

Frontiers in genetics

Przemyslaw Kosinski, Milena Greczan, Aleksandra Jezela-Stanek

Affiliations

  1. 1st Department of Obstetrics and Gynecology, Medical University of Warsaw, Warsaw, Poland.
  2. Department of Pediatrics, Nutrition, and Metabolic Diseases, Children's Memorial Health Institute, Warsaw, Poland.
  3. Department of Genetics and Clinical Immunology, National Institute of Tuberculosis and Lung Disease, Warsaw, Poland.

PMID: 34163527 PMCID: PMC8215573 DOI: 10.3389/fgene.2021.674722

Abstract

Fryns syndrome is an autosomal recessive multiple congenital anomaly syndrome, with diaphragmatic defects and secondary lung hypoplasia as cardinal features. Despite it was reported first in 1979, its exact etiology has not been established to date. With this review, we would like to draw attention to the prenatal presentation of multiple congenital anomalies syndromes, resulting from defects in the synthesis of glycosylphosphatidylinositol anchors, to be considered in a prenatal assessment of fetuses with DH and Fryns-like phenotype.

Copyright © 2021 Kosinski, Greczan and Jezela-Stanek.

Keywords: CDH; Fryns syndrome; GPIBDs; congenital diaphragmatic hernia; glycosylphosphatidylinositol biosynthesis defects

Conflict of interest statement

The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.

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