Holoprosencephaly: face (ethmocephaly) 3D ultrasound scan - vTomb

Holoprosencephaly: face (ethmocephaly) 3D ultrasound scan

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To view detailed training video clip of holoprosencephaly (features of the face) please visit www.ultrasoundlink.net.

This video clip describes the 2D and 3D ultrasound features of ethmocephaly in a fetus with alobar holoprosencephaly at 13 weeks' gestation. The features of ethmocephaly unclude: arrhinia (absence of nose), extreme hypotelorism, abnormal eyes (microphthalmia, anophthalmia) and proboscis located between or above the eyes.

Holoprosencephaly, with a birth prevalence of about 1 in 10 000, is characterized by a spectrum of cerebral abnormalities resulting from incomplete cleavage of the forebrain. In about half of the cases diagnosed in the first trimester there is an underlying trisomy 13. The risk of recurrence for sporadic, non-chromosomal holoprosencephaly is 6%.

In the standard transverse view of the fetal head there is a single dilated midline ventricle replacing the two lateral ventricles or partial segmentation of the ventricles. There are often associated facial defects, such as cyclopia, facial cleft and nasal hypoplasia or proboscis.

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