[Prenatal diagnosis of a case of Fryns' syndrome].
Fryns' syndrome was reported for the first time in 1979 in children who died neonatally of prematurity and respiratory distress. This lethal, autosomal recessive syndrome is characterized by a diaphragmatic defect, pulmonary hypoplasia, a "coarse" face and distal limb abnormalities. This report presents a prenatal ultrasonographic diagnosis at 20 weeks' gestation of a case of Fryns' syndrome and defines the frequency of each of its abnormalities from the 38 cases listed in the literature.
Barthe
B
B
Service de Gynécologie Obstétrique, Hôpital International de l'Université de Paris, Institut Mutualiste Montsouris.
Cohen
H
H
Saada
P
P
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging; D000328:Adult; D005147:Facial Bones / Q000002:abnormalities*; D005260:Female; D005385:Fingers / Q000002:abnormalities*; D006548:Hernia, Diaphragmatic / Q000000981:diagnostic imaging*; D065630:Hernias, Diaphragmatic, Congenital; D006801:Humans; D008168:Lung / Q000002:abnormalities*; D011247:Pregnancy; D011262:Pregnancy Trimester, Second; D013577:Syndrome; D016216:Ultrasonography, Prenatal
Un cas de diagnostic prénatal du syndrome de Fryns.