Fetal phenotypes of congenital disorder of glycosylation: A case presentation

Fetal phenotype of SLC35A2‐CDG: Enlarged cisterna magna on ultrasound

“…The dilated cisterna magna which became progressive in late gestation was the only fetal sign. Only one prenatally diagnosed case of SLC35A2‐CDG has been previously reported 4 . The affected fetus showed limb growth retardation, scoliosis and polyhydramnios at mid pregnancy.…”

“…Only one prenatally diagnosed case of SLC35A2-CDG has been previously reported. 4 The affected fetus showed limb growth retardation, scoliosis and polyhydramnios at mid pregnancy. The male infant died of multiple organ failure at day 3, and trio-WES revealed a hemizygous de novo c.1A > G (p.M1?)…”