Cranio-facial skeletal development in three human synophthalmic holoprosencephalic fetuses

In three human fetuses with synophthalmic holoprosencephaly (8, 14, 23 wks. p.c.) and two normal human fetuses (9 and 13 wks. p.c.) the anatomy of the cranial base, facial cranium and their relation to the notochord was studied using serial histological sections and computer aided three-dimensional reconstruction methods. Mesethmoidal cartilage differentiation was variably deficient in all three holoprosencephalic cases. The premaxillary bones were rudimentary with missing tooth buds. The development of the sphenoid bone was defective in two of the holoprosencephalic cases (8, 14 wks. p.c.). The notochord terminated normally within the sphenoid body in all investigated cases. Our results indicate that in holoprosencephaly there is a general defect in the midline cranial cartilage differentiation rostral to the notochord.