Fryns syndrome: Prenatal diagnosis and pathologic correlation

Abstract

Fryns syndrome is a rare autosomal recessive syndrome characterized by dysmorphic facial features, diaphragmatic hernia, distal limb hypoplasia, and pulmonary hypoplasia. A case of Fryns syndrome diagnosed prenatally at 16 weeks is presented. The diagnosis was confirmed on autopsy with the additional finding of fused adrenal glands.