title: Antenatal three-dimensional sonographic features of Roberts syndrome.
abstract: BACKGROUND
  We present a fetus whose characteristics most likely represent Roberts syndrome.
  
  
  METHODS
  Prenatal diagnosis at 21 weeks and 1 day age of gestation was made employing conventional two-dimensional (2D) sonography, showing shortened upper and lower extremities. An umbilical cord cyst was also noted. Three-dimensional (3D) sonography revealed additional abnormalities which included bilateral hypoplastic and proximal implantation of the thumb, exophthalmic eyes, and suspected cleft lip. Shortened upper extremities, contracted legs, and an umbilical cord cyst were also clearly confirmed. Transparent X-ray mode uncovered the absence of radial and ulnar bones. Subtle fetal structures were readily discernible with 3D sonography so that the family could understand the fetal condition in utero. They underwent counseling, and opted for termination of the pregnancy. The sonographic findings were confirmed after delivery, supported by a 3D computed tomographic skeletal survey.
  
  
  CONCLUSIONS
  To the best of our knowledge, this is the first report of Roberts syndrome employing antenatal 3D sonographic imaging.
authors.affiliation: Department of Perinatology and Gynecology, Kagawa University School of Medicine, Kagawa, 761-0793, Japan.
authors.forename: Daisy J
authors.initials: DJ
authors.lastname: Dulnuan
authors.forename: Megumi
authors.initials: M
authors.lastname: Matsuoka
authors.forename: Emiko
authors.initials: E
authors.lastname: Uketa
authors.forename: Keiji
authors.initials: K
authors.lastname: Hayashi
authors.forename: Jun
authors.initials: J
authors.lastname: Murotsuki
authors.forename: Gen
authors.initials: G
authors.lastname: Nishimura
authors.forename: Toshiyuki
authors.initials: T
authors.lastname: Hata
mesh_terms: D019465:Craniofacial Abnormalities / Q000000981:diagnostic imaging*; D004480:Ectromelia / Q000000981:diagnostic imaging*; D005260:Female; D006801:Humans; D006972:Hypertelorism / Q000000981:diagnostic imaging*; D021621:Imaging, Three-Dimensional; D011247:Pregnancy; D016216:Ultrasonography, Prenatal