title: Contribution of 3D ultrasound and fetal face studies to the prenatal diagnosis of Pallister-Killian syndrome.
abstract: BACKGROUND
  Pallister-Killian syndrome (PKS) is a multiple malformation syndrome caused by a chromosomal abnormality in which the presence of four copies of the short arm of chromosome 12 results in severe mental retardation. Cytogenetic diagnosis is particularly difficult due to the specific tissue distribution of the abnormality. PKS may be suspected based on the prenatal ultrasound detection of polyhydramnios and diaphragmatic hernia, possibly associated with rhizomelic micromelia.
  
  
  RESULTS
  We report here a case of PKS in which the 3D ultrasound examination of facial features after prenatal PKS diagnosis showed signs suggestive of the syndrome.
  
  
  CONCLUSIONS
  A detailed 3D examination of the fetal face may help to guide diagnosis, particularly when the only sign detected on ultrasound is polyhydramnios, as in the case reported here.
authors.affiliation: Department of Ultrasound and Fetal Medicine, CMCO-SIHCUS, Schiltigheim, France.
authors.forename: Nicolas
authors.initials: N
authors.lastname: Sananes
authors.forename: Virginie
authors.initials: V
authors.lastname: Guigue
authors.forename: Christophe
authors.initials: C
authors.lastname: Vayssiere
authors.forename: Monique
authors.initials: M
authors.lastname: Kohler
authors.forename: Françoise
authors.initials: F
authors.lastname: Girard-Lemaire
authors.forename: Elisabeth
authors.initials: E
authors.lastname: Flori
authors.forename: Nadege
authors.initials: N
authors.lastname: Carelle-Calmels
authors.forename: Nelly
authors.initials: N
authors.lastname: Boehm
authors.forename: Brigitte
authors.initials: B
authors.lastname: Samama
authors.forename: Berenice
authors.initials: B
authors.lastname: Doray
authors.forename: Romain
authors.initials: R
authors.lastname: Favre
mesh_terms: D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging*; D000328:Adult; D025063:Chromosome Disorders / Q000175:diagnosis; D002881:Chromosomes, Human, Pair 12; D005145:Face / Q000002:abnormalities / Q000000981:diagnostic imaging*; D005260:Female; D005333:Fetus / Q000033:anatomy & histology; D006801:Humans; D021621:Imaging, Three-Dimensional / Q000706:statistics & numerical data; D008607:Intellectual Disability / Q000000981:diagnostic imaging*; D011247:Pregnancy; D013577:Syndrome; D016216:Ultrasonography, Prenatal / Q000379:methods*