Objective

This paper discusses the possible etiologies for the proportionate short stature of a female individual and provides data to allow the diagnosis of future cases of Turner Syndrome (TS) in paleopathology.

Materials

Skeleton of a 26-years-old maid, from the Coimbra Identified Skeletal Collection, who died of measles in 1920.

Methods

Macroscopic examination, imaging techniques, and metric analysis.

Results

Her estimated height is 138.91–144.3 cm, approximately three standard deviations below the average female stature for early 20th century Portugal. The crural, brachial, humero-femoral, and intermembral indexes show a proportionate body, uncommon in dwarfism. Small skull with prominent frontal, maxillary prognathism, enamel hypoplasia, cribra orbitalia, porotic hyperostosis, proliferative reaction in the petrous portion of the temporal, obliterated sagittal suture, oval foramen magnum, and small mandible with masculine features. The sternal ends of the ribs are wider and vertebrae present developmental defects (e.g. atlas with both left transverse foramina and posterior tubercle open, absence of the right transverse foramen in the axis, sacrum with six vertebrae).

Conclusions

The differential diagnosis point to a possible case of Turner Syndrome.

Significance

This study describes the features of Turner Syndrome and provide detail metric analysis of this individual, which will be useful for future paleopathological diagnoses.

Limitations

The confirmation of the diagnosis will only be possible through genetic analysis.

Suggestions for further research

Reanalysis of skeletal individuals with short stature to detect possible cases of Turner Syndrome.

中文翻译：

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来自科英布拉收藏的女性骨骼比例身材矮小的古病理学诊断：特纳综合征与其他原因

客观的

本文讨论了女性个体比例矮小的可能病因，并提供数据以允许在古病理学中诊断未来的特纳综合征 (TS) 病例。

材料

来自科英布拉鉴定骨骼收藏的 26 岁女仆的骨骼，她于 1920 年死于麻疹。

方法

宏观检查、成像技术和度量分析。

结果

她的估计身高为 138.91-144.3 厘米，比 20 世纪初葡萄牙女性的平均身高低大约三个标准差。小腿、肱骨、肱骨-股骨和骨间指数显示成比例的身体，这在侏儒症中并不常见。小颅骨有突出的额骨、上颌前突、牙釉质发育不全、眶周、多孔性骨质增生、颞骨岩部增生反应、矢状缝消失、枕骨大孔和小下颌骨，具有男性特征。肋骨的胸骨末端更宽，椎骨存在发育缺陷（例如，左横椎间孔和后结节均开放的寰椎，轴上没有右横椎孔，骶骨有六个椎骨）。

结论

鉴别诊断指向一个可能的特纳综合征病例。

意义

这项研究描述了特纳综合征的特征，并提供了对该个体的详细度量分析，这将有助于未来的古病理学诊断。

限制

只有通过基因分析才能确认诊断。

进一步研究的建议

重新分析身材矮小的骨骼个体以检测特纳综合征的可能病例。