Case Report

A 25-year-old woman was referred to our hospital at 33 weeks of pregnancy. Her personal and familial history are non relevant : G2P0 with 1 early spontaneous miscarriage, negative triple test for Down syndrome although bHCG level was low <0,25MoM (NT 1,3mm; CRL 63mm; PAPP-A 1,29MoM, bHCG 0,16, combined risk 1/10 000).

Second trimester US exam was performed in another center and did not reveal any anomaly.

The patient was referred to our hospital at 33 weeks of pregnancy due to oligoamnios.

Our examination revealed the following findings:

Image 1: biometrics were within normal ranges, although estimated fetal weight was close to the 3^rd percentile.biometrics were within normal ranges, although estimated fetal weight was close to the 3^rd percentile.

Images 2 and 3; video 1: 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.Images 2 and 3; video 1: 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.

Images 4-8: abnormal spine curve with a lateral bending in coronal plane. Normal kidneys.Images 4-8: abnormal spine curve with a lateral bending in coronal plane. Normal kidneys.

Images 9-11: spine curve is related to a lumbar hemivertebra. (There is doubt whether this fetus has 5 lumbar vertebrae + 1 lumbar hemivertebra or 5 lumbar vertebrae among which 1 hemivertebra).Images 9-11: spine curve is related to a lumbar hemivertebra. (There is doubt whether this fetus has 5 lumbar vertebrae + 1 lumbar hemivertebra or 5 lumbar vertebrae among which 1 hemivertebra).

Images 12-15: superior facial angle is wide opened > 150° (normal 130° +/-12°) due to flat nasal brige. Micrognathia is associated: mandible does not align with nasal and maxillary bones (inferior facial angle (not shown) was 45° (expected normal >60°). There is no hypertelorism, as the interocular distance seems appropriate for a virtual “3^rd eye” insertion without blank space left.

We performed amniocentesis followed by a CGH-array: deletion of the short arm of the 4^th chromosome was found. Final diagnosis was 4p deletion syndrome, also known as Wolf-Hirschhorn syndrome.

This case features the well-known “Greek-warrior helmet” facial features of 4p- syndrome, with a long broad flat nose whose insertion is high on a broad forehead, which was key to the diagnosis. However, 4p deletion syndromes usually feature IUGR, facial cleft and hypertelorism, which were not the case here. Spine hemivertebra is non specific.

References

Omim's entry on WOLF-HIRSCHHORN SYNDROME http://omim.org/entry/194190

A website dedicated to 4p- syndrome filled with stories families of patients http://wolfhirschhorn.org/

The author had reported a previous case of 4p- syndrome years ago on thefetus.net