Fryns syndrome: report on 8 new cases

Abstract

The name Fryns syndrome was given to a new variable multiple congenital anomaly syndrome, almost always lethal, described in 1978, and now known to be autosomal recessive. Since that date, 20 patients have been reported in the literature. We describe 8 new cases, 6 of which were diagnosed in a series of 112276 consecutive births (livebirths and perinatal deaths). The prevalence of this syndrome can be estimated to be around 0.7 per 10000 births. These new cases confirm that the most frequent anomalies are diaphragmatic defects, lung hypoplasia, cleft lip and palate (often bilateral), cardiac defects (septal defects and aortic arch anomalies), renal cysts (type II, III or IV), urinary tract malformations, and distal limb hypoplasia. Most patients also have hypoplastic external genitalia and anomalies of internal genitalia (bifid or hypoplastic uterus, immature testes). The digestive tract is also often abnormal: duodenal atresia, pyloric hyperplasia, malrotation and common mesentery are present in half of the patients. When the brain was examined, more than half were abnormal (Dandy‐Walker anomaly and agenesis of corpus callosum). A few patients demonstrated cloudy cornea. We examined the eyes of three patients histologically: two of them showed retinal dysplasia with rosettes and gliosis of the retina, thickness of posterior capsula of lens and irregularities of the Bowman membrane. Four of our cases were diagnosed prenatally between 24 and 27 weeks. It is to be expected that prenatal diagnosis will be made often and earlier in the future, as the spectrum of anomalies of the Fryns syndrome can easily be evidenced by sonography.

Fryns Syndrome in Monozygotic Twins: A Case Report with Review of Literature

“…Fryns syndrome may be the most common autosomal recessive syndrome in which congenital diaphragmatic hernia is a cardinal feature (Aymé et al, 1989;Slavotinek et al, 2005). Vargas et al (2000) reported a pair of monozygotic twins with Fryns syndrome discordant for severity of diaphragmatic defect.…”

Genetics of gastrointestinal atresias

“…Digestive atresias including EA, although rare in Fryns syndrome, have been observed (Ayme et al, 1989).…”

Antenatal sonographic diagnosis of fryns syndrome: A case report

“…This case had multiple congenital anomalies detected in the ultrasound scan at 26 weeks of gestation as mentioned earlier. Ayme et al (1989) 5 reported prenatal diagnosis of fryns syndrome by an ultrasound scan, between 24 and 27 weeks of gestation. Fryn syndrome was diagnosed in the prenatal ultrasound scan by detection of diaphragmatic hernias and polyhydramnios by Manouvrier-Hanu et al (1996).…”

“…3 The incidence of congenital anomalies is 1 in 838 live births in Malaysia. 4 Fryns syndrome is a rare autosomal recessive disorder with an estimated prevalence of about 0.7 per 10,000 births in France (Ayme et al 1989). 5 Ayme et al (1989) reported prenatal diagnosis of fryns syndrome by an ultrasound scan, between 24 and 27 weeks of gestation.…”

“…4 Fryns syndrome is a rare autosomal recessive disorder with an estimated prevalence of about 0.7 per 10,000 births in France (Ayme et al 1989). 5 Ayme et al (1989) reported prenatal diagnosis of fryns syndrome by an ultrasound scan, between 24 and 27 weeks of gestation. Manouvrier-Hanu et al (1996) 6 detected diaphragmatic hernias and polyhydramnios in the prenatal ultrasound scan of a case of fryns syndrome.…”