title: Two sibs with Wiedemann-Rautenstrauch syndrome: possibilities of prenatal diagnosis by ultrasound.
abstract: A girl with Wiedemann-Rautenstrauch syndrome was born to a non-consanguineous couple. During the pregnancy, growth retardation particularly in the biparietal and abdominal diameters but not the femoral length was detected through serial ultrasound scans. When the woman became pregnant again, in spite of having been assessed as having a 25% risk of recurrence, the prenatal findings seen in her previous pregnancy led us to suggest sequential echography and a similar pattern of growth retardation was shown. After termination, the male fetus was found to be affected by Wiedemann-Rautenstrauch syndrome. This case shows that ultrasound examination can be a useful tool in the prenatal diagnosis of this rare, autosomal recessive syndrome.
authors.affiliation: Fundación de Genética Humana, Buenos Aires, Argentina.
authors.forename: G
authors.initials: G
authors.lastname: Castiñeyra
authors.forename: M
authors.initials: M
authors.lastname: Panal
authors.forename: H
authors.initials: H
authors.lastname: Lopez Presas
authors.forename: E
authors.initials: E
authors.lastname: Goldschmidt
authors.forename: J M
authors.initials: JM
authors.lastname: Sánchez
mesh_terms: D000028:Abortion, Induced; D000328:Adult; D005260:Female; D005315:Fetal Diseases / Q000000981:diagnostic imaging* / Q000235:genetics; D005808:Genes, Recessive; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D011247:Pregnancy; D011296:Prenatal Diagnosis; D011371:Progeria / Q000000981:diagnostic imaging* / Q000235:genetics; D013577:Syndrome; D014463:Ultrasonography