A Rare Case That Can Be Diagnosed With Prenatal Ultrasound: Fryns Syndrome

Abstract

Fryns syndrome is a syndrome that is accompanied by multiple congenital anomalies, with extremely high mortality, showing autosomal recessive inheritance and often leaves severe mental retardation on those who survive. Abnormal facial appearance, distant faded nipples, small rib cage, distal extremity and nail hypoplasia, pulmonary hypoplasia and diaphragmatic hernia are among major criteria for the diagnosis. Later, cardiovascular, genitourinary, central nervous system and skeletal system anomalies have been identified. Here, we presented Fryns syndrome case which has been diagnosed by prenatal ultrasound, and of which the diagnosis has been confirmed by physical examination and ultrasound at the postnatal period. © 2015, Yuzuncu Yil Universitesi Tip Fakultesi. All rights reserved.