Fryns syndrome: A rare case report with review of literature

Abstract

Fryns syndrome is a rare multiple congenital anomaly syndrome with incidence of 0.7-1 in 10,000 births. Characteristic features of this syndrome are congenital diaphragmatic hernia, lung hypoplasia, unusual facial features, limb defects and parental consanguinity. Here we report a case of Fryns syndrome of consanguineous parents at the gestation age of 27 week old. Mother presented to department of obstetrics and gynaecology with inability to perceive fetal movements. Ultasonography revealed polyhydramnios, intrauterine growth retardation, and congenital anomaly of diaphragm and absence of fetal heart sound. Based on ultrasound findings, clinical diagnosis of congenital diaphragmatic hernia was made for which therapeutic abortion was performed and a still born fetus was delivered which was sent for post mortem study. On autopsy, diagnosis of Fryns syndrome was made.