AUTHOR=Greczan Milena , Rokicki Dariusz , Wesół-Kucharska Dorota , Kaczor Magdalena , Rawiak Agata , Jezela-Stanek Aleksandra TITLE=Perinatal manifestations of congenital disorders of glycosylation—A clue to early diagnosis JOURNAL=Frontiers in Genetics VOLUME=13 YEAR=2022 URL=https://www.frontiersin.org/journals/genetics/articles/10.3389/fgene.2022.1019283 DOI=10.3389/fgene.2022.1019283 ISSN=1664-8021 ABSTRACT=

N-glycosylation defects—isolated or mixed with other glycosylation defects—are the most frequent congenital disorders of glycosylation and present mostly in childhood, with a specific combination of non-specific phenotypic features. The diagnosis, however, is often delayed. The aim of this study is to describe the perinatal phenotype of congenital disorders of N-glycosylation. We present an analysis of perinatal symptoms in a group of 24 one-center Polish patients with N-glycosylation defects—isolated or mixed. The paper expands the perinatal phenotype of CDGs and shows that some distinctive combinations of symptoms present in the perinatal period should raise a suspicion of CDGs in a differential diagnosis.