Fryns syndrome survivors and neurologic outcome

Abstract

Fryns syndrome is an autosomal recessive multiple congenital anomaly syndrome characterized by diaphragmatic hernia, unusual facies, and distal limb hypoplasia. It was first reported as a lethal condition. We report on a three-year-old survivor with Fryns syndrome, and provide a review on the outcome of other survivors. Patients who survive the neonatal period represent 14% of reported cases. Characteristics of survivors include less frequent diaphragmatic hernia and milder lung hypoplasia, absence of complex cardiac malformation, and neurologic impairment. Multiple central nervous system abnormalities have been reported in Fryns syndrome, including agenesis of the corpus callosum, Dandy-Walker abnormality, cerebellar heterotopias, cerebellar hypoplasia, enlarged ventricles, and hypoplasia of the olfactory bulbs. Our patient exhibited profound mental retardation. He had malformations of gyration and sulcation, particularly around the central sulcus, and hypoplastic optic tracts beyond the optic chiasm. Understanding of long-term outcome of survivors is important for counseling of families with Fryns syndrome. Careful brain examination is advised; however, a normal radiological brain examination does not preclude developmental delay. The spectrum of individual outcome and of associated anomalies indicates that individual evaluation, including imaging for structural brain malformation, is strongly advised.

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

“…About 36.5% of fetuses die before 36 weeks gestation and 32.2% were born alive after 36 weeks but died within the first days of life (Van Hove et al, 1995).…”

Ocular findings in Fryns syndrome

“…Subsequently, more than 50 case reports about this syndrome followed (Ayme et al 1989;Young et al 1986;Van Hove et al 1995;Fryns 1987;McKusick 1997). Fryns syndrome is characterized by the combined occurrence of multiple congenital anomalies such as Dandy-Walker malformation, abnormal face (cleft palate), diaphragmatic hernia, lung hypoplasia, heart defects (ventricular septum defects), distal limb hypoplasia, anomalies of external genitalia and polyhydramnios (Fryns 1987).…”

“…Prevalence was estimated to be 0.7 per 10,000 births (Ayme et al 1989). The anomalies usually cause stillbirth or neonatal death; only about 14% of patients survive -usually with mental retardation (Van Hove et al 1995). Inheritance of this syndrome seems to be autosomal recessive; the karyotype usually is normal (Fryns et al 1979).…”

“…Inheritance of this syndrome seems to be autosomal recessive; the karyotype usually is normal (Fryns et al 1979). Reported ocular features in patients with Fryns syndrome include hypertelorism, microphthalmus, ''cloudy cornea'', Bowman irregularities, thickened posterior lens capsule with vacuolization of posterior lens fibers and retinal dysplasia with rosettes and gliosis of retina (Ayme et al 1989;McKusick 1997;Van Hove et al 1995). In addition, hypoplastic optic tracts beyond the optic chiasm were reported (Van Hove et al 1995).…”

“…Reported ocular features in patients with Fryns syndrome include hypertelorism, microphthalmus, ''cloudy cornea'', Bowman irregularities, thickened posterior lens capsule with vacuolization of posterior lens fibers and retinal dysplasia with rosettes and gliosis of retina (Ayme et al 1989;McKusick 1997;Van Hove et al 1995). In addition, hypoplastic optic tracts beyond the optic chiasm were reported (Van Hove et al 1995). Retinal gliosis and ''cloudy cornea'' seem to occur in about one-fifth to one-third of patients (Van Hove et al 1995).…”