Prenatal diagnosis of PORCN‐related developmental syndrome in a fetus

This case report discusses a female fetus born to an unrelated couple with a complex fetal phenotype, including pleural effusion, cardiac malformation, and syndactyly of the toes. This case represents the first report of a prenatal phenotype involving fetal effusion associated with PORCN gene variants, with skeletal findings identified later in gestation through ultrasound and confirmed postnatally.