Antenatal sonographic diagnosis of fryns syndrome: A case report

Fryns et al described a syndrome in the year 1979.1 Fryns syndrome is characterized by diaphragmatic defects, facial dysmorphism including coarse face, hypertelorism, broad and flat nasal bridge, with thick nasal tip, long philtrum, tented upper lip, wide mouth, micrognathia, low set and poorly formed ears and distal digital hypoplasia, pulmonary hypoplasia and others.2 We report a case of fryns syndrome in twenty- nine years old, Chinese, primigravida diagnosed during antenatal ultrasound scan at 26 weeks of gestation. The diagnosis has been confirmed by clinical finding, ultrasound, X-ray chest, CT brain, and ECHO at the postnatal period.

Keywords: Fryns syndrome, Diaphragmatic hernia, Microphthalmia, Lung hypoplasia polyhydramnios.