Cebocephaly, alobar holoprosencephaly, spina bifida, and sirenomelia in a stillbirth

Abstract

Cebocephaly and sirenomelia are uncommon birth defects. Their association is extremely rare; however, the presence of spina bifida with both conditions is not unexpected. We report on a female stillbirth with cebocephaly, alobar holeprosencephaly, cleft palate, lumbar spina bifida, sirenomelia, a single umbilical artery, and a 46,XX karyotype, but without maternal diabetes mellitus. Our case adds to the examples of overlapping cephalic and caudal defects, possibly related to vulnerability of the midline developmental field or axial mesodermal dysplasia spectrum.