title: First trimester diagnosis of Pallister-Killian syndrome in a fetus with suggestive abnormalities.
abstract: BACKGROUND
  Pallister-Killian Syndrome is a rare, sporadic chromosomal disorder characterized by a tetrasomy 12p often in mosaic. It is only in 2000 that the first case of PKS was diagnosed in the first trimester further to an increased nuchal translucency.
  
  
  OBJECTIVE
  Report a new case.
  
  
  METHODS
  To our knowledge, we present the first case of early prenatal diagnosis of Pallister Killian Syndrome due to the presence of an increased nuchal translucency, a diaphragmatic hernia, a typical facial dysmorphism and a micromelia of a predominantly rhizomelic type . A chorionic cells biopsy showed a normal karyotype. The diagnosis was revealed on cytogenetic analysis of amniotic fluid sampling.
  
  
  CONCLUSIONS
  The main ultrasound indicators of PKS seem to be: Hydramnios, congenital diaphragmatic hernia (CDH) and a micromelia of a rhizomelic type. The Hydrops fetalis, hygroma coli or increased nuchal translucency (INT), fetal overgrowth, ventriculomegaly and presence of a sacral appendix are less common. The amniocentesis with the study of the karyotype on amniotic cells is considered to be the gold standard for the diagnosis of PKS. A good morphological study during the first trimester in search of ultrasound abnormalities highly suggestive of PKS is able to direct the cytogenetic study.
authors.affiliation: Department of Gynecology and Obstetrics, Hospital Mahmoud El Matri, Ariana.
authors.forename: Mechaal
authors.initials: M
authors.lastname: Mourali
authors.forename: Chiraz
authors.initials: C
authors.lastname: El Fekih
authors.forename: Kaouther
authors.initials: K
authors.lastname: Dimassi
authors.forename: Asma
authors.initials: A
authors.lastname: Fatnassi
authors.forename: Nabil Ben
authors.initials: NB
authors.lastname: Zineb
authors.forename: Boujemaa
authors.initials: B
authors.lastname: Oueslati
mesh_terms: D000328:Adult; D025063:Chromosome Disorders / Q000175:diagnosis; D002881:Chromosomes, Human, Pair 12; D019465:Craniofacial Abnormalities / Q000000981:diagnostic imaging; D005260:Female; D006548:Hernia, Diaphragmatic / Q000000981:diagnostic imaging; D006801:Humans; D048208:Nuchal Translucency Measurement; D011247:Pregnancy; D011261:Pregnancy Trimester, First; D011296:Prenatal Diagnosis