title: VACTERL-H syndrome: first trimester diagnosis.
abstract: We present two consecutive female fetuses with identical upper limb anomalies. The first of the cases was found to have ventriculomegaly, atrial septal defect, anal atresia, narrowing of the duodenal lumen and unilateral renal agenesis at the end of the second trimester. These abnormalities were characteristic of autosomal recessive VACTERL-H syndrome. The second case was diagnosed to have absent radii and thumbs at 11 weeks. Detailed examination of fetal limbs in the first trimester screening in cases with high risk is useful for early detection of this malformation.
authors.affiliation: Department of Gynecology and Obstetrics, Haseki Training and Research Hospital, İstanbul, Turkey.
authors.forename: Banu
authors.initials: B
authors.lastname: Dane
authors.affiliation: Department of Gynecology and Obstetrics, Haseki Training and Research Hospital, İstanbul, Turkey.
authors.forename: Zeynep
authors.initials: Z
authors.lastname: Kayaoğlu
authors.affiliation: Department of Gynecology and Obstetrics, Haseki Training and Research Hospital, İstanbul, Turkey.
authors.forename: Cem
authors.initials: C
authors.lastname: Dane
authors.affiliation: Department of Pathology, Cerrahpaşa Faculty of Medicine, İstanbul University, İstanbul, Turkey.
authors.forename: Figen
authors.initials: F
authors.lastname: Aksoy
keywords: VACTERL-H syndrome; first trimester diagnosis; radial aplasia