Mediobasal prosencephalic defects, including holoprosencephaly and cyclopia, in relation to the development of the human forebrain

The American Journal of Anatomy
F Müller, R O'Rahilly

Abstract

Four very early synophthalmic embryos were studied in serial sections and reconstructed graphically by the point-plotting method. Three belonged to stage 16 (5 weeks) and one to stages 19/20 (7 weeks). Recently completed accounts and reconstructions of the normal brains of staged human embryos served as controls for comparison with the abnormal examples. The embryos shared in common: holoprosencephaly, arhinencephaly sensu stricto (absence of olfactory nerve fibers, bulbs, and tracts), presence of a proboscis, synophthalmia with two lens vesicles, a retarded telencephalic wall, absence of the mediobasal part of the telencephalon (the future septal area and the commissural plate: future anterior commissure and corpus callosum), irregularity of the diencephalon, mensural changes in the brain, absence of the rostral part of the notochord and consequent cranial defects, and small ganglia of the cranial nerves. Where it could be determined (at least in the three less advanced specimens), the adenohypophysial primordium was either small and isolated or was absent; a tentorial condensation appeared to be missing; and disturbances of the primordia of the orbital muscles and their innervation were noted. The corpus striatum is single an...Continue Reading

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