Contribution of 3D ultrasound and fetal face studies to the prenatal diagnosis of Pallister-Killian syndrome.

Abstract

BACKGROUND:

Pallister-Killian syndrome (PKS) is a multiple malformation syndrome caused by a chromosomal abnormality in which the presence of four copies of the short arm of chromosome 12 results in severe mental retardation. Cytogenetic diagnosis is particularly difficult due to the specific tissue distribution of the abnormality. PKS may be suspected based on the prenatal ultrasound detection of polyhydramnios and diaphragmatic hernia, possibly associated with rhizomelic micromelia.

METHOD AND RESULTS:

We report here a case of PKS in which the 3D ultrasound examination of facial features after prenatal PKS diagnosis showed signs suggestive of the syndrome.

CONCLUSION:

A detailed 3D examination of the fetal face may help to guide diagnosis, particularly when the only sign detected on ultrasound is polyhydramnios, as in the case reported here.

• Authors: Nicolas Sananes, Virginie Guigue, Christophe Vayssiere, Monique Kohler, Françoise Girard-Lemaire, Elisabeth Flori, Nadege Carelle-Calmels, Nelly Boehm, Brigitte Samama, Berenice Doray, Romain Favre
• Journal: The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians (J Matern Fetal Neonatal Med) Vol. 23 Issue 6 Pg. 558-62 (Jun 2010) ISSN: 1476-4954 [Electronic] England
• PMID: 19718583 (Publication Type: Case Reports, Journal Article)

Topics

• Abnormalities, Multiple (diagnostic imaging)
• Adult
• Chromosome Disorders (diagnosis)
• Chromosomes, Human, Pair 12
• Face (abnormalities, diagnostic imaging)
• Female
• Fetus (anatomy & histology)
• Humans
• Imaging, Three-Dimensional (statistics & numerical data)
• Intellectual Disability (diagnostic imaging)
• Pregnancy
• Syndrome
• Ultrasonography, Prenatal (methods)