Neu Laxova Syndrome—A Terrifying Disease in Two Siblings With a Novel Variant in PHGDH Gene

Abstract

Introduction Neu-Laxova Syndrome (NLS) is a rare, autosomal, and recessively inherited disease characterized by severe congenital malformations, leading to prenatal or early postnatal mortality. The hallmark clinical features of this syndrome are severe intrauterine growth restriction, central nervous system abnormalities, restrictive dermopathy, and characteristic facial dysmorphia. There is no cure or treatment for this syndrome and the termination of the pregnancy is the suggested approach. Case description Here, we report a new case of 2 siblings with NLS, diagnosed in utero by ultrasonography and genetic examination. Two variants in heterozygosity in the phosphoglycerate dehydrogenase gene were discovered, including a previously uncharacterized variant (c.487C>T p. [Arg163Trp]). Comments Despite all the advances in prenatal diagnosis, NLS remains undiagnosed in many pregnancies. Early and sequential US examinations should be performed in high-risk pregnant women, to establish an early diagnosis.