title: Fetal facial profile in Pallister-Killian syndrome.
abstract: Pallister-Killian syndrome (PKS) is a sporadic chromosomal anomaly, caused by a tissue-specific mosaic distribution of an additional isochromosome 12p. About 60 cases of prenatal diagnosis of PKS have been reported. Only 1 case of PKS is described on the basis of prenatal screening, presenting increased nuchal translucency. An abnormal fetal facial profile is described prenatally as sonographic evidence of PKS. We report a case of prenatal diagnosis in a fetus undergoing second-level scan due to positive triple screen with ultrasound features of PKS.
authors.affiliation: Section of Obstetrics and Gynecology, University of Chieti School of Medicine, Chieti, Italy.
authors.forename: Marco
authors.initials: M
authors.lastname: Liberati
authors.forename: Karen
authors.initials: K
authors.lastname: Melchiorre
authors.forename: Ilenia
authors.initials: I
authors.lastname: D'Emilio
authors.forename: Paolo Emilio
authors.initials: PE
authors.lastname: Guanciali-Franchi
authors.forename: Irene
authors.initials: I
authors.lastname: Iezzi
authors.forename: Sigfried
authors.initials: S
authors.lastname: Rotmensch
authors.forename: Claudio
authors.initials: C
authors.lastname: Celentano
mesh_terms: D000328:Adult; D019465:Craniofacial Abnormalities / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000235:genetics*; D005260:Female; D005313:Fetal Death; D005315:Fetal Diseases / Q000175:diagnosis / Q000000981:diagnostic imaging / Q000235:genetics; D006801:Humans; D018404:Isochromosomes / Q000235:genetics*; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods; D013577:Syndrome; D014463:Ultrasonography