Insights into the anatomical expressions of anencephaly in three infants from 17th to 19th- century Lisbon, Portugal.

Abstract

Objective: This study aims to analyse and compare the cranial morphological variations in three individuals, each exhibiting different severity levels of malformations. Materials: Three nearly complete and well-preserved skeletons of infants from the S˜ao Domingos children’s necropolis in Lisbon, Portugal, dating from the 17th to early 19th centuries. Methods: Macroscopic and metric assessments were performed aimed at creating a detailed description of the skeletons. Results: The three infants exhibit an absence of the upper cranial vault, accompanied by several cranial bone alterations such as abnormal development and morphology of the occipital, sphenoid, temporal, and frontal bones. Additionally, two of the infants present maxillary and dental anomalies. Conclusions: The three infants from the S˜ao Domingos necropolis provide crucial insights into the presence of anencephaly in an historical population, representing an exceptionally rare archaeological find. The distinct cranial abnormalities strongly support the diagnosis and highlight varying severity levels of the condition. Significance: These examples enhance the recognition of anencephaly in archaeological contexts and deepen the understanding of its varied bone expressions. Examining skeletal variations within the same condition also complements the broader palaeopathological discussion of rare diseases. Limitations: The lack of soft tissue preservation reduces a comprehensive assessment of anencephaly in skeletal remains. The archaeological context presents challenges such as fragmentation. Additionally, determining postnatal survival is difficult due to the subtle or absent skeletal indicators that might suggest survival beyond birth. Suggestions for further research: Biomolecular genetics analysis could be a valuable approach for future research.