The facial features of holoprosencephaly in anencephalic human specimens. II. Craniofacial anatomy

The craniofacial anatomy of two anencephalic human specimens with the facial features of holoprosencephaly is reported. Many of the malformations have distinctly holoprosencephalic or anencephalic features. Absence of the entire ethmoid complex, observed in both specimens of the present study, has rarely been described and, to our knowledge, has never been confirmed histologically. The significance of agenesis of the ethmoid bone in the development of normal and holoprosencephalic facial features has not been considered previously. On the basis of several morphological variations in the two specimens described, it is evident that the ethmoid bone provides integral support in multiple planes for tissues of the median face. It is postulated that the spatial relationships of the bony and soft tissue components of the median face are guided and maintained by the ethmoid complex during morphogenesis. Specifically, hypotelorism and superiorly displaced structures of the nose and upper lip may well represent migration of embryonic tissues into areas normally occupied by the ethmoid bone. Absence of the sella turcica and pituitary gland is ascribed to the holoprosencephalic process. A variant of choanal atresia, due to collapse of the pterygoid plates, is described.