Dwarfism-related skeletal dysplasia in Italy. Multi-analytic study of 8th century CE human remains from Azzio (Varese) and biocultural implications of a pathology

Abstract

Skeletal dysplasias are a broad family of genetic disorders, often challenging to diagnose even in clinical literature without molecular analysis. Some cases of possible skeletal dysplasia have also been identified in osteoarchaeological samples, although achieving a definitive diagnosis is fraught with difficulties. This paper presents the analysis of the osteological remains of AZ-III-3, discovered in the archaeological context of the Church of Sant’Antonio and Eusebio in Azzio (Varese province, Italy). The study aims to demonstrate that even with limited skeletal elements, a diagnosis can be hypothesised using macroscopic morphometric and radio diagnostic techniques. These methods, compared with clinical and paleopathological literature, have allowed for the identification of a rare Italian case of dwarfism-related skeletal dysplasia. This contribution seeks to address the biocultural presence of individuals affected by these skeletal dysplasias, listing and discussing all published Italian cases, including that of AZ-III-3, whose chronological framework was established through both archaeological context analysis and 14C dating.