title: First-trimester prenatal diagnosis of Okihiro syndrome.
abstract: A case of Okihiro syndrome (OS) detected by 2- and confirmed by 3-dimensional ultrasound at 13+2 gestational weeks is reported. While the pregnant woman affected by the OS presented with limb anomalies, the fetus showed severe thoracoabdominal and skeletal anomalies. Termination of pregnancy was performed at 14+1 gestational weeks and confirmed the sonographically detected symptoms. The diagnosis was confirmed by autoptic, radiologic and molecular genetic analysis. To our knowledge, this is the first case of prenatal diagnosis of OS.
authors.affiliation: Center for Prenatal Diagnosis, Free University of Berlin, Berlin, Germany. bedaktari@t-online.de
authors.forename: R
authors.initials: R
authors.lastname: Becker
authors.forename: D
authors.initials: D
authors.lastname: Horn
authors.forename: U
authors.initials: U
authors.lastname: Knoll
authors.forename: M
authors.initials: M
authors.lastname: Stumm
authors.forename: R D
authors.initials: RD
authors.lastname: Wegner
authors.forename: H
authors.initials: H
authors.lastname: Peters
authors.forename: N
authors.initials: N
authors.lastname: Sarioglu
mesh_terms: D000328:Adult; D004370:Duane Retraction Syndrome / Q000000981:diagnostic imaging*; D005260:Female; D005315:Fetal Diseases / Q000000981:diagnostic imaging*; D005865:Gestational Age; D006228:Hand Deformities, Congenital / Q000000981:diagnostic imaging* / Q000473:pathology; D006801:Humans; D021621:Imaging, Three-Dimensional; D011247:Pregnancy; D011261:Pregnancy Trimester, First; D012857:Situs Inversus / Q000000981:diagnostic imaging* / Q000473:pathology; D016216:Ultrasonography, Prenatal