Presentation
25 year old woman, personal and familial history non-relevant. Negative triple test for Down syndrome, although bHCG level was low (less than 0.25 MoM). 2nd trimester US did not reveal any anomaly. Referred at 33 weeks' gestation for oligohydramnios.
Patient Data
Image 1: biometrics were within normal ranges, although estimated fetal weight was close to the 3rd percentile.
Images 2,3,4 and video 1,2: normal brain findings, no lip cleft although fetal face was clearly abnormal: flat profile with thick flattened cutaneous nasal bridge. Micrognathia is also seen on sagittal view (and indirectly on coronal US scanning as the chin “disappears” earlier than the nose tip).
Images 5-6: abnormal spine curve with a lateral bending in coronal plane.
Superior facial angle is wide opened > 150° (normal 130° +/-12°) due to flat nasal bridge.
Micrognathia: mandible does not align with nasal and maxillary bones - inferior facial angle (not shown) was 45° (normal >60°).
There is no hypertelorism, as the interocular distance seems appropriate for a virtual “3rd eye” insertion in-between without a blank space left.
Spine curve is related to a lumbar hemivertebra. (There is doubt as to whether this fetus has 5 lumbar vertebrae + 1 lumbar hemivertebra or 5 lumbar vertebrae among which 1 is a hemivertebra.)
Case Discussion
We performed amniocentesis followed by a CGH-array: deletion of the short arm of the 4th chromosome was found. Final diagnosis was Wolf-Hirschhorn syndrome, also known as 4p deletion syndrome.
This case features the well-known “Greek-warrior helmet” facial features of 4p deletion syndrome, with a long broad flat nose whose insertion is high on a broad forehead, which was key to the putative diagnosis. However, 4p deletion syndrome usually feature IUGR, facial cleft and hypertelorism, which were not the case here. Spinal hemivertebra is nonspecific.
Special thanks to Dr Cuillier, Dr Balu and Pr Doray.