“ Range of presentations, from silent to fatal. It arises from a failure of cleavage of the developing forebrain. ‘Face predicts the brain’—...
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Range of presentations, from silent to fatal. It arises from a failure of cleavage of the developing forebrain. ‘Face predicts the brain’—the extent of facial cleavage correlates to the extent of intracranial abnormality.
ALOBAR
Most severe type, commonly there is a facial deformity. No cleavage occurs, so there is fusion of the cerebral hemispheres and a monoventricle communicating with a posterior cyst. Midline structures (e.g. falx and third ventricle) are absent and thalami are fused.
SEMILOBAR
Extent of cleavage is variable. Typically, the frontal cortices are fused and midline structures deficient anteriorly but present posteriorly. The third ventricle is rudimentary and there is an anterior monoventricle.
LOBAR
There is a mild degree of fusion affecting the frontal brain only. The septum pellucidum is absent (as in all forms). May appear identical to septo-optic dysplasia.
T2-weighted axial magnetic resonance imaging scan of a neonate shows a large monoventricle and fusion of the frontal cortices, in keeping with semi-lobar holoprosencephaly.
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