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


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.


CONCLUSIONS
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.
Sananes
Nicolas
N
Department of Ultrasound and Fetal Medicine, CMCO-SIHCUS, Schiltigheim, France.
Guigue
Virginie
V
Vayssiere
Christophe
C
Kohler
Monique
M
Girard-Lemaire
Françoise
F
Flori
Elisabeth
E
Carelle-Calmels
Nadege
N
Boehm
Nelly
N
Samama
Brigitte
B
Doray
Berenice
B
Favre
Romain
R
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging*; D000328:Adult; D025063:Chromosome Disorders / Q000175:diagnosis; D002881:Chromosomes, Human, Pair 12; D005145:Face / Q000002:abnormalities / Q000000981:diagnostic imaging*; D005260:Female; D005333:Fetus / Q000033:anatomy & histology; D006801:Humans; D021621:Imaging, Three-Dimensional / Q000706:statistics & numerical data; D008607:Intellectual Disability / Q000000981:diagnostic imaging*; D011247:Pregnancy; D013577:Syndrome; D016216:Ultrasonography, Prenatal / Q000379:methods*