Prenatal forehead edema in 4p- deletion: the 'Greek warrior helmet' profile revisited.
OBJECTIVE
Deletion of short arm of chromosome 4 is difficult to ascertain prenatally, and can be missed.


METHODS
A prenatal suspicion of 4p- syndrome was thoroughly investigated by using two-dimensional and three-dimensional sonography, with a description of the fetal face dysmorphological pattern. The cytogenetic confirmation, obtained by karyotype and FISH technique, allowed a precise description of the prenatal abnormalities. Post-termination tridimensional helicoidal scanner of the fetal face was performed.


RESULTS
The main anomaly discovered using two-dimensional sonography was the presence of a strikingly thick prefrontal edema (8 mm, twice the normal values, at 22 weeks: 3.81 +/- 0.62 mm). Three-dimensional sonography showed the classical postnatal profile, with the phenotypic aspect of a 'Greek warrior helmet'. Nasal bones were normal in size and placement, confirmed by helicoidal scanner.


CONCLUSIONS
Prenatal diagnosis of 4p deletion syndrome can be difficult, and it is the presence of prefrontal edema, associated with more subtle facial anomalies (short philtrum, microretrognathia) which should trigger cytogenetic investigation for 4p- deletion, even with only borderline growth retardation.
Levaillant
J M
JM
Obstetrics, Centre Hospitalier Intercommunal, Créteil, France. Levaillant.jean-marc@wanadoo.fr
Touboul
C
C
Sinico
M
M
Vergnaud
A
A
Serero
S
S
Druart
L
L
Blondeau
J R
JR
Abd Alsamad
I
I
Haddad
B
B
Gérard-Blanluet
M
M
D000328:Adult; D002872:Chromosome Deletion; D002894:Chromosomes, Human, Pair 4; D019465:Craniofacial Abnormalities / Q000175:diagnosis*; D004487:Edema / Q000209:etiology*; D005260:Female; D005317:Fetal Growth Retardation / Q000000981:diagnostic imaging; D005546:Forehead; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D011247:Pregnancy; D011296:Prenatal Diagnosis; D013577:Syndrome; D016216:Ultrasonography, Prenatal