title: Prader-Willi syndrome: is there a recognizable fetal phenotype?
abstract: OBJECTIVE
  To determine fetal features, which could lead to the diagnosis of Prader-Willi syndrome (PWS) during pregnancy.
  
  
  METHODS
  We analyze the ultrasound features, genetic studies and pathologic findings in two cases of PWS diagnosed during pregnancy.
  
  
  RESULTS
  In the first case, diminished fetal movement, polyhydramnios and oddly positioned hands and feet suggested PWS. Methylation studies confirmed diagnosis and a deletion was detected in the 15q11-q13 region. In the second case, similar ultrasound findings led to prenatal diagnosis of PWS with an abnormal methylation pattern compatible with uniparental disomy. Both fetuses had a characteristic appearance at 28 and 30 weeks' gestation, which included a peculiar position of hands with flexed wrists and dorsi-extended feet with flexed toes.
  
  
  CONCLUSIONS
  The peculiar position of the extremities combined with diminished fetal movement and polyhydramnios seems to be characteristic and should suggest PWS.
authors.affiliation: Centre de Référence Anomalies du Développement et Syndromes Malformatifs, Service de Génétique Médicale, Hôpital Arnaud de Villeneuve, Centre Hospitalier Régional et Universitaire, Montpellier, France.
authors.forename: Nicole
authors.initials: N
authors.lastname: Bigi
authors.forename: Jean-Michel
authors.initials: JM
authors.lastname: Faure
authors.forename: Christine
authors.initials: C
authors.lastname: Coubes
authors.forename: Jacques
authors.initials: J
authors.lastname: Puechberty
authors.forename: Geneviève
authors.initials: G
authors.lastname: Lefort
authors.forename: Pierre
authors.initials: P
authors.lastname: Sarda
authors.forename: Patricia
authors.initials: P
authors.lastname: Blanchet
mesh_terms: D000328:Adult; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D006831:Polyhydramnios; D011218:Prader-Willi Syndrome / Q000000981:diagnostic imaging* / Q000235:genetics; D011247:Pregnancy; D014463:Ultrasonography