Computed tomography of a cyclotocephalic neonate

Cyclotocephaly is a very rare malformative lethal condition which associates otocephaly (extreme hypoplasia of the mandibular arch with agnathia) and cyclopy with proboscis. The head of a cyclotocephalic neonate from our Museum of Anatomy and Embryology was examined using computed tomography (CT). Cutaneous and osseous three-dimensional reformations were performed. Severe bony malformations were observed. A single orbital cavity was surrounded by a cartilaginous proboscis and a median fusion of maxillae, temporal and zygomatic bones. The single orbital cavity contained both paramedial eyeballs (synophthalmia). The external auditory meati and the ear pinnae were also parasagittal. No oral cavity and mandible were observed. Despite the poor conservation state of the brain, lobar holoprosencephaly was suspected. The mesencephalon and pituitary gland were absent. This exercise could lead to optimizing ultrasonographic prenatal diagnosis.