title: [Prenatal and clinicopathological study of 6 cases of Pallister-Killian syndrome and review].
abstract: OBJECTIVE
  In multidisciplinary prenatal diagnosis centers, the search for a tetrasomy 12p mosaic is requested following the discovery of a diaphragmatic hernia in the antenatal period. Thus, the series of Pallister Killian syndromes (PKS: OMIM 601803) probably overestimate the prevalence of diaphragmatic hernia in this syndrome to the detriment of other morphological abnormalities.
  
  
  METHODS
  A multicenter retrospective study was conducted with search for assistance from members of the French society for Fetal Pathology. For each identified case, we collected all antenatal and postnatal data. Antenatal data were compared with data from the clinicopathological examination to assess the adequacy of sonographic signs of PKS. A review of the literature on antenatal morphological anomalies in case of PKS completed the study.
  
  
  RESULTS
  Ten cases were referred to us: 7 had cytogenetic confirmation and 6 had ultrasound screening. In the prenatal as well as post mortem period, the most common sign is facial dysmorphism (5 cases/6). A malformation of limbs is reported in half of the cases (3 out of 6). Ultrasound examination detected craniofacial dysmorphism in 5 cases out of 6. We found 1 case of left diaphragmatic hernia. Our results are in agreement with the malformation spectrum described in the literature.
  
  
  CONCLUSIONS
  Some malformation associations could evoke a SPK without classical diaphragmatic hernia.
authors.affiliation: Service de gynécologie-obstétrique et médecine de la reproduction, centre hospitalier universitaire de Poitiers, 2, rue de la Milétrie, BP 577, 86021 Poitiers, France. Electronic address: david.desseauve@univ-poitiers.fr.
authors.forename: D
authors.initials: D
authors.lastname: Desseauve
authors.affiliation: Service de génétique clinique, centre hospitalier universitaire de Poitiers, 2, rue de la Milétrie, BP 577, 86021 Poitiers, France.
authors.forename: M
authors.initials: M
authors.lastname: Legendre
authors.affiliation: Service de gynécologie-obstétrique et médecine de la reproduction, centre hospitalier universitaire de Poitiers, 2, rue de la Milétrie, BP 577, 86021 Poitiers, France.
authors.forename: M
authors.initials: M
authors.lastname: Dugué-Maréchaud
authors.affiliation: Service de gynécologie-obstétrique et médecine de la reproduction, centre hospitalier universitaire de Poitiers, 2, rue de la Milétrie, BP 577, 86021 Poitiers, France.
authors.forename: V
authors.initials: V
authors.lastname: Vequeau-Goua
authors.affiliation: Service de gynécologie-obstétrique et médecine de la reproduction, centre hospitalier universitaire de Poitiers, 2, rue de la Milétrie, BP 577, 86021 Poitiers, France.
authors.forename: F
authors.initials: F
authors.lastname: Pierre
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis; D025063:Chromosome Disorders / Q000175:diagnosis* / Q000235:genetics; D002881:Chromosomes, Human, Pair 12 / Q000235:genetics; D019465:Craniofacial Abnormalities / Q000175:diagnosis; D005260:Female; D005602:France; D006548:Hernia, Diaphragmatic / Q000175:diagnosis; D006801:Humans; D017880:Limb Deformities, Congenital / Q000175:diagnosis; D011247:Pregnancy; D011296:Prenatal Diagnosis; D012189:Retrospective Studies; D016216:Ultrasonography, Prenatal
keywords: Antenatal; Anténatal; Diagnosis; Diagnostic; Foetopathology; Fœtopathologie; Pallister-Killian