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An unusual manifestation of holoprosencephaly in a pig.

H oloprosencephaly is a syndrome of anomalies of the face and brain. The two areas are intimately related in the syndrome, such that the face serves as a predictor of malformations of the brain (1). Malformations of the forebrain range from various degrees of interhemispheric cortical continuity (lobar or semilobar) to absence of cerebral tissue (anencephaly). The facial characteristics vary from optic hypotelorism to cyclopia (synophthalmia), often accompanied by a proboscis in that region derived from the medial nasal prominence. Typically the mandible and oral cavity are normal. Holoprosencephaly is thought to occur as an inadequate fusion of the medial and lateral nasal prominences and the maxillary division of the first pharyngeal arch (2). A full-term piglet weighing 560 g was delivered stillborn in southern Ontario. The producer noted a facial anomaly and preserved the piglet in formalin for delivery to the Ontario Veterinary College for examination. No data were available on the littermates or the sow. Its most obvious anomalies were a proboscis dorsal to two malformed eyes, which were hypoteloric, and the absence of a mandible (Figure 1). The external ears appeared to meet midventrally. There was no hair except for vibrissae, and the skin had a shiny appearance. The tip of the proboscis carried vibrissae and glabrous epithelium typical of a snout. The right eyelids were developed normally, but the left eyelids were partially fused. Both eyes were complete and normal. Figure 1. Lateral view of deformed piglet with partially fused left eyelid, proboscis, malposition of the pinna, and absence of lower jaw. The animal appears hairless. The arrow indicates the larynx/pharynx complex.