The challenging diagnosis of cranial congenital anomalies in a newborn from an Italian 20th century documented skeletal collection

Microcephaly and encephalocele are congenital conditions that are rarely observed in perinatal skeletal remains. This case report investigates the craniofacial features of an individual of 38 gestational weeks from the Collezione Antropologica LABANOF (CAL) skeletal collection for which the death certificate indicates microcephaly and encephalocele as the cause of death. Loss of normal morphology of the sphenoid, temporal, and maxillary bones was noted and described. The state of preservation of the skeleton hindered direct observation of the anomalies related to microcephaly, but features that can be ascribed to an encephalocele were found. However, the lesions observed could not be reliably related to the conditions reported in the death certificate, so an additional interpretation of the observed pathological signs was suggested, even though the bone changes are not specific enough to draw a definite diagnosis. Although the skeleton was not fully recovered, the remaining osseous elements provide relevant insights to the appearance of cranial anomalies in perinatal individuals. Moreover, these findings are helpful to bioarcheologists because of the dearth of reports that describe the skeletal changes that accompany these pathological conditions.