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

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.

Automated summary

Fryns syndrome is an autosomal recessive multiple congenital anomaly syndrome characterized by diaphragmatic defects and secondary lung hypoplasia. Despite being first reported in 1979, the exact etiology of the syndrome remains uncertain, and prenatal presentation of these anomalies may require consideration of defects in glycosylphosphatidylinositol anchor synthesis.