Binder Phenotype in a Fetus with CHD3-Related Snijders Blok-Campeau Syndrome

Abstract

Snijders Blok-Campeau syndrome is a rare autosomal dominant neurodevelopmental disorder caused by pathogenic variants in the CHD3 gene. Most cases are diagnosed postnatally based on the phenotype and confirmatory genetic testing, with only a few prenatal reports to date. We describe a prenatal case associated with a Binder phenotype, expanding the known prenatal phenotypic spectrum. A 26-year-old pregnant woman (G2P1L1) had a fetus with multiple sonographic abnormalities at 20 weeks' gestation, prompting genetic evaluation that identified a likely pathogenic CHD3 variant.