Cystic hygroma and congenital diaphragmatic hernia: Early prenatal sonographic evaluation of Fryns' syndrome

Abstract

We report a case of cystic hygroma and diffuse lymphangiectasia detected by sonogram at 12 weeks' gestation. Fetal karyotype was normal. At 20 weeks' gestation, herniation of the bowel into the chest was noted. At delivery, the infant was diagnosed as having Fryns' syndrome. This is the first reported case of Fryns' syndrome presenting with cystic hygroma.

Fryns syndrome: prenatal diagnosis and pathologic correlation.

“…9 Autopsy evaluations have reported microscopic and macroscopic renal cysts and cortical dysplasia, which we also found. 2,10,[12][13][14] The adrenal glands were fused in the midline, which has not been reported previously. The cardiac and central nervous system anomalies are not uncommon and can often be diagnosed prenatally.…”

“…This has been reported prenatally only once before, 10 although autopsy reports have commented on thick, short webbed necks consistent with probable in utero cystic hygromas. Bilateral echogenic kidneys were noted, which had been reported previously only once.…”

“…Most diaphragmatic hernias reported in Fryns syndrome occur secondary to a posterolateral defect in the diaphragm, and this is one of the key features in the prenatal diagnosis of Fryns syndrome. 1,10 Usually the posterolateral diaphragm has fused by 6 to 10 weeks of gestation. However, ultrasonographic detection of a diaphragmatic hernia is not thought possible before 16 weeks and then only rarely.…”

“…6 Prenatal diagnosis of Fryns syndrome was reported as early as 1989, with initial findings limited to polyhydramnios and diaphragmatic hernias. 4,7 Recent reports have noted prenatal diagnosis of other associated anomalies, such as cleft lip and cleft palate with ventriculomegaly, 8 gastric anomalies with bilateral renal enlargement, 9 and cystic hygroma with fetal hydrops 10 noted on ultrasonographic examination from 16 to 28 weeks. We report here a case of Fryns syndrome diagnosed prenatally at 16 weeks with pathologic confirmation at delivery.…”

Antenatal sonographic diagnosis of fryns syndrome: A case report

“…This is due to posterolateral defects in the diaphragm. 1,10 In the present case, the fryns syndrome was confirmed postnatally by clinical features, CT scan of the brain, ultrasound cranium, and abdomen, ECHO, and X-ray chest on day one of the life. The CT brain and ultrasound of cranium of the baby revealed congenital anomalies as mentioned earlier.…”