title: 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 112,276 consecutive births (livebirths and perinatal deaths). The prevalence of this syndrome can be estimated to be around 0.7 per 10,000 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.
authors.affiliation: INSERM U 242, Centre de Génétique Médicale, Marseille, France.
authors.forename: S
authors.initials: S
authors.lastname: Aymé
authors.forename: C
authors.initials: C
authors.lastname: Julian
authors.forename: D
authors.initials: D
authors.lastname: Gambarelli
authors.forename: B
authors.initials: B
authors.lastname: Mariotti
authors.forename: A
authors.initials: A
authors.lastname: Luciani
authors.forename: N
authors.initials: N
authors.lastname: Sudan
authors.forename: N
authors.initials: N
authors.lastname: Maurin
authors.forename: N
authors.initials: N
authors.lastname: Philip
authors.forename: F
authors.initials: F
authors.lastname: Serville
authors.forename: D
authors.initials: D
authors.lastname: Carles
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis*; D005260:Female; D005313:Fetal Death / Q000175:diagnosis; D005808:Genes, Recessive; D006801:Humans; D008297:Male; D011247:Pregnancy; D011296:Prenatal Diagnosis; D013577:Syndrome; D014463:Ultrasonography