title: Prenatal ultrasound findings observed in the Wolf-Hirschhorn syndrome: data from the registry of congenital malformations in Auvergne.
abstract: BACKGROUND
  Wolf-Hirschhorn syndrome (WHS) is associated with facial dysmorphism including high forehead, high nasal bridge, hypertelorism and severe mental retardation. WHS results from a 4p16.3 deletion. Only a small number of reports have been made on the prenatal ultrasound findings observed in WHS.
  
  
  METHODS
  Here we report our experience on 10 cases of WHS ascertained prenatally between 1983 and 2009 through the CEMC-Auvergne registry of congenital malformations.
  
  
  CONCLUSIONS
  The assumption that a "Greek warrior helmet" facies is pathognomonic of WHS could lead to misdiagnosis. Other clinical findings such as severe and early onset intrauterine growth retardation, facial dysmorphism (high forehead, high nasal bridge, low-set ears, micrognathia, hypertelorism), atrial or ventricular septal defect, and renal dysplasia should help obstetricians to suspect the diagnosis of WHS prenatally.
authors.affiliation: CHU Clermont-Ferrand, Génétique Médicale, Clermont-Ferrand, France.
authors.forename: Anne
authors.initials: A
authors.lastname: Debost-Legrand
authors.forename: Carole
authors.initials: C
authors.lastname: Goumy
authors.forename: Hélène
authors.initials: H
authors.lastname: Laurichesse-Delmas
authors.forename: Pierre
authors.initials: P
authors.lastname: Déchelotte
authors.forename: Anne-Marie
authors.initials: AM
authors.lastname: Beaufrère
authors.forename: Didier
authors.initials: D
authors.lastname: Lémery
authors.forename: Christine
authors.initials: C
authors.lastname: Francannet
authors.forename: Denis
authors.initials: D
authors.lastname: Gallot
mesh_terms: D002872:Chromosome Deletion; D002894:Chromosomes, Human, Pair 4; D005260:Female; D005333:Fetus / Q000002:abnormalities*; D005602:France; D006801:Humans; D007621:Karyotyping; D010641:Phenotype; D012042:Registries; D016216:Ultrasonography, Prenatal; D054877:Wolf-Hirschhorn Syndrome / Q000175:diagnosis* / Q000235:genetics* / Q000473:pathology
keywords: Wolf-Hirschhorn syndrome; fetus; prenatal ultrasound examination