Antenatal sonographic diagnosis of fryns syndrome: A case report

Shobha Lad ,Vijayan Vela ,Ruey Soon

doi:10.18231/2394-2754.2018.0065

Abstract

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.

Highlights

Fryns syndrome is a rare syndrome characterized by a congenital diaphragmatic hernia, 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 distal digital hypoplasia, pulmonary hypoplasia and others.[2]
Multiple fetal anomalies were noted in the fetus. They were a left-sided diaphragmatic hernia, the right hemidiaphragm intact, the right lung normal, the left lung hypoplasia, the stomach was in the thorax (Fig. 1), the liver down in the abdomen, the right eye microphthalmia, unilateral ventriculomegaly, absent cavum septum pellucidum (Fig. 2)
Fryn syndrome was diagnosed in the prenatal ultrasound scan by detection of diaphragmatic hernias and polyhydramnios by Manouvrier-Hanu et al (1996).[6]

Summary

Introduction

Fryns syndrome is a rare syndrome characterized by a congenital diaphragmatic hernia, 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 distal digital hypoplasia, pulmonary hypoplasia and others.[2]. Multiple fetal anomalies were noted in the fetus They were a left-sided diaphragmatic hernia, the right hemidiaphragm intact, the right lung normal, the left lung hypoplasia, the stomach was in the thorax (Fig. 1), the liver down in the abdomen, the right eye microphthalmia, unilateral ventriculomegaly, absent cavum septum pellucidum (Fig. 2). At 34+6 week of gestation ultrasound scan revealed the BPD above the 95th percentile, the AC below 50th percentile and the FL at 95TH percentile, unilateral ventriculomegaly, absent cavum septum pellucidum, a left diaphragmatic hernia, the stomach in the thorax, microphthalmia of the right eye, the left lung hypoplasia and the liver in the abdomen. Her postpartum course was unremarkable and was discharged home on a postpartum day 2 Her second pregnancy was complicated by gestational diabetes and delivered a baby boy on 3/12/2014. The baby boy had no congenital abnormality and he is healthy until today

Discussion

Findings

Conclusion