Italian scientists examined two bone fragments discovered during excavations at a medieval church in the north of the country. The remains likely belonged to a single adult who lived to be at least 20 years old. Anomalies in these bones led to the conclusion that the individual suffered from dwarfism, possibly caused by achondroplasia. This was reported in a paper 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 age and sex). Currently, scientists identify over three hundred different causes of dwarfism. It is most often associated with achondroplasia, a rare genetic disorder that disrupts the normal development of bones and cartilage. Achondroplasia is caused by mutations in the FGFR3 gene, which encodes a protein called fibroblast growth factor receptor 3. The current incidence of this genetic disorder is approximately 1 in 20,000 to 30,000 people.
Of course, people have suffered from achondroplasia in the past. One such 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 right femur, believed to have belonged to the same individual. To determine their age, scientists submitted a piece of one of them for radiocarbon dating, which revealed that the individual died between 679 and 820 AD. The fragmentary nature of these finds made it impossible to determine the sex of the individual, who, according to the researchers, lived for at least 20 years.
Both finds show clear signs of developmental anomalies. For example, anthropologists compared the length of the preserved humerus with that of adult women from the 8th to early 17th centuries, whose remains were also excavated in the commune of Azzio, where the church studied is located. This value deviated from the average by approximately six standard deviations. In addition to its short length, the humerus was distinguished by a very large curvature of the diaphysis, which, in particular, likely resulted in the individual being unable, or barely able, to extend the arm at the elbow. Scientists also found signs of enthesopathy, a pathological process at the attachment sites of tendons, ligaments, and joint capsules to the bones, on both the humerus and femur.
The scientists concluded that the remains belonged to a person with dwarfism. They believed that achondroplasia was most likely the cause of this anomaly, but they could not completely rule out other diagnoses without genetic analysis. They mentioned chondroplasia punctata and pseudoachondroplasia as alternatives.
Previously, 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.
