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.

中文翻译：

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一例严重脊椎骨骺发育不良的解剖重建与护理

客观的

该分析旨在在临床和社会上将一组来自乌兹别克斯坦塔什布拉克（8 世纪至 11 世纪，共同时代 [CE]）具有严重系统性骨骼畸形的人类遗骸 (TBK Br8) 置于背景之下。

材料

一具保存完好且近乎完整的人体骨骼。

方法

对遗骸进行了宏观评估和记录。

结果

观察到 TBK Br8 中软骨内衍生的骨骼元素发育不全。除了一个可观察到的关节外，骨的广泛增生已经侵入了所有关节，不同程度地阻塞了大多数椎间孔、腰椎管和颈椎横椎间孔。

结论

遗骸被诊断出患有脊椎骨骺发育不良 (SED)，可能是亚型进行性假风湿性发育不良（迟发性脊椎骨骺发育不良伴进行性关节病。在死亡时呈现功能性截瘫，TBK Br8 可能患有广泛的麻木、刺痛、虚弱和/或下肢和胸部疼痛，可能还有短暂的心理症状。

意义

TBK Br8 疾病的严重程度将对他们在一个深深植根于游牧生活方式的社会中的日常互动产生重大影响，并且证明了生存所需的护理。

限制

无法获得放射学、遗传学和组织学分析。

对未来研究的建议

对先前显示与脊椎骨骺发育不良相关的突变进行重点基因检测。