Italian scientists have examined two bone fragments that archaeologists discovered during excavations of a medieval church in the north of the country. The remains apparently belonged to a single adult who lived at least 20 years. Anomalies in these bones led to the conclusion that the person suffered from dwarfism, which was possibly caused by achondroplasia. This is reported in an article published in the Journal of Archaeological Science: Reports.
Dwarfism (nanism, dwarfism) is a clinical syndrome characterized by abnormally short stature (more than three standard deviations below the average height for the corresponding age and sex). Currently, scientists count more than three hundred different causes that can lead to dwarfism. Most often, it is associated with achondroplasia, a rare genetic disease that disrupts the normal development of bones and cartilage. Achondroplasia is caused by mutations in the FGFR3 gene, which codes for a protein called fibroblast growth factor receptor 3. Today, the incidence of this genetic disease is approximately 1 case per 20-30 thousand people.
Of course, achondroplasia has affected people in the past. One potential case was described by Omar Larentis of Trentino University and his Italian colleagues. In 2012, during excavations of an early 17th-century Catholic church in the province of Varese (Lombardy), archaeologists discovered the remains of earlier religious buildings, the oldest of which was built in the 8th–9th centuries. In addition to the remains of the churches themselves, the scientists also found the bones of more than 200 people who lived between the 8th and 19th centuries.
Among other things, archaeologists unearthed fragments of a right humerus and a right femur that presumably belonged to the same person. To determine their age, scientists sent a piece of one of them for radiocarbon dating, which showed that the individual died around 679–820 AD. The fragmentary nature of these finds made it impossible to determine the sex of the person, who, according to the researchers, lived for at least 20 years.
Both finds show clear signs of developmental anomalies. Thus, anthropologists compared the length of the preserved part of the humerus with the same indicator in adult women of the 8th - early 17th centuries, whose remains were also excavated in the commune of Azzio, where the studied church is located. This indicator was approximately six standard deviations below the average. In addition to its small length, the humerus was distinguished by a very large curvature of the diaphysis, which, in particular, probably led to the fact that the person could not or practically could not straighten the arm at the elbow joint. On both the humerus and the femur, scientists also found signs of enthesopathy, that is, a pathological process in the places where tendons, ligaments and joint capsules are attached to the bones.
The scientists concluded that the remains belonged to a person with dwarfism. In their opinion, the cause of this anomaly was most likely achondroplasia, but without genetic analysis they did not completely rule out other diagnoses. Thus, as alternatives, they mentioned punctate chondroplasia and pseudoachondroplasia.
Earlier, archaeologists discovered the remains of a medieval dwarf in Poland, and then anthropologists even reconstructed the appearance of this man, who died in the late 9th - early 11th centuries.