[Familial Wiedeman-Beckwith syndrome: prenatal echography diagnosis and histologic confirmation].
A new family with Wiedeman-Beckwith Syndrome is reported. All the affected subjects are conceived from normal sisters. In two cases, antenatal diagnosis has been established by ultrasound examination which showed an exomphalos. In one case, pathological examination of the abortus product confirmed the diagnosis.
D001506:Beckwith-Wiedemann Syndrome / Q000175:diagnosis / Q000235:genetics*; D003241:Consanguinity; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D010375:Pedigree; D011247:Pregnancy; D011296:Prenatal Diagnosis; D014463:Ultrasonography
Syndrome de Wiedeman Beckwith-familial: diagnostic anténatal echographique et confirmation histologique.