Reconstruction of anatomy and care provisioning in a severe case of spondyloepiphyseal dysplasia

Abstract

Objective: This analysis aims to clinically and socially contextualize a set of human remains (TBK Br8) with severe systemic skeletal dysmorphology from Tashbulak, Uzbekistan (8th-11th c. Common Era [CE]).

Materials: One well-preserved and nearly-complete human skeleton.

Methods: Remains were assessed and documented macroscopically.

Results: Endochondrally derived skeletal elements in TBK Br8 were observed to be underdeveloped. Extensive proliferation of bone had invaded all but one observable joint, variably occluding most intervertebral foramina, the lumbar vertebral canal, and transverse foramina of the cervical spine.

Conclusions: The remains were diagnosed with spondyloepiphyseal dysplasia (SED), possibly the subtype progressive pseudorheumatoid dysplasia (spondyloepiphyseal dysplasia tarda with progressive arthropathy. Rendered functionally paraplegic by the time of death, TBK Br8 likely suffered from widespread areas of numbness, tingling, weakness and/or pain in the lower limbs and thorax, and perhaps transient psychological symptoms.

Significance: The severity of TBK Br8's disease would have had significant implications to their daily interactions in a society with deep roots in nomadic lifeways, and is a testament to the care required to enable survival.

Limitations: Radiology, genetic, and histologic analyses are unavailable.

Suggestions for future research: Focused genetic testing for mutations previously shown to be associated with spondyloepiphyseal dysplasias.

Keywords: Healthcare; Islamic archaeology; Osteoarthritis; Silk Road; Skeletal dysplasia.