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 |