P03.38: Prenatal forehead edema in 4p‐ deletion, the “Greek warrior helmet” profile revisited

Abstract

Deletion of short arm of chromosome 4 is difficult to ascertain in prenatal, and can be missed. 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 Fish technique on a apparently normal karyotype allowed a precise description of the prenatal abnormalities permitting to evoke chromosome 4p deletion. Post-interruption tri-dimensional helicoidal scanner of the fetal face was done. The main anomaly discovered using two-dimensional sonography was 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 “Greek warrior helmet”. Nasal bones were normal in size and placement, confirmed by helicoidal scanner. Prenatal diagnosis of deletion 4p syndrome can be tricky, and it is the presence of an important prefrontal edema, associated with more subtle face anomalies (short philtrum, microretrognathia) which should trigger the cytogenetic research of 4p- deletion, even with only borderline growth retardation.