Forensic facial approximation of an individual with achondroplasia from medieval cemetery in Central Europe

Achondroplasia (ACH, achondroplastic dwarfism) represents the most common form of skeletal dysplasia, occurring in c. 4 out of every 100,000 births. This study presents a computer-based facial approximation of the skull of a male individual living with ACH, who died at 30–45 years of age and was buried in Łekno, Poland between the 9th and 11th centuries AD. For the approximation procedure, soft tissue data from CT scans and ultrasonic measurements performed on living individuals were used. Additionally, an anatomical deformation technique was applied to arrive at the most reliable reconstruction of the achondroplastic individual's appearance. To our knowledge, this is the first facial depiction of a person with achondroplasia, and one of the few showing a head of an individual suffering from a hereditary disease, with dimensions and shape differing from the population average values.