Foetus

External Exam

Macroscopy

Microscopy

1

Proboscis (1.5 cm)

arrhinia,

philtrum long,

Cleft palate (2.5 cm)

Brain with absence of interhemispheric fissure

Absence of bulb and olfactory tract

Normal cerebellum.

Heart abnormalities with right heart tip, atrio-ventricular communication

No available data

3

macrocephaly,

bulging

fontanelle

Brain with triventricular dilation, septum disruption, corpus callosum present but broken

Brainstem: Poorly individualized colliculi, reduced aqueduct of sylvius

Cerebellum with a transverse diameter at 18 mm (for a normal size at 27 mm at this stage of development) with normal morphology

Brainstem: weakly differentiated inferior colliculi, reduced aqueduct of Sylvius in favour of mesencephalosynapsis