A probable case of holoprosencephaly with cyclopia in a full-term fetus from a modern skeletal collection

Objective This study presents evidence of a probable case of holoprosencephaly with cyclopia, which has been rarely reported in the paleopathological literature. Materials The skeletal remains of a male fetus between 36 and 40 gestational weeks from the Collezione Antropologica LABANOF (CAL) Milano Cemetery Skeletal Collection were studied. Methods The bones were macroscopically examined, and pathological anomalies were recorded and evaluated alongside paleopathological and clinical literature. Results Developmental anomalies were observed. In particular, a single orbit and optical canal were present, and the frontal, sphenoid and palatine bones were prematurely fused. These changes altered the normal morphology of the midline structures of the cranium and face. Conclusions The developmental anomalies observed are consistent with a case of holoprosencephaly associated with cyclopia. Significance Holoprosencephaly is a fatal congenital condition caused by the failure of the prosencephalon to separate in two halves. This condition is clinically well-known, with an estimated modern incidence of 1/16,000 births; however, the paleopathological literature lacks reports that would help anthropologists and paleopathologists interpret these anomalous signs on dry bone. This report documents a rare paleopathological case of the condition on a full-term fetus from a modern skeletal collection. Limitations Taphonomic and anthropic factors may have impaired the observation of all pathological features. Suggestions for further research Comparative studies with cases from documented collections could improve knowledge of the appearance of this condition on dry bones.