Objective

This study presents evidence of a probable case of holoprosencephaly with cyclopia, which has been rarely reported in the paleopathological literature.

Materials

The skeletal remains of a male fetus between 36 and 40 gestational weeks from the Collezione Antropologica LABANOF (CAL) Milano Cemetery Skeletal Collection were studied.

Methods

The bones were macroscopically examined, and pathological anomalies were recorded and evaluated alongside paleopathological and clinical literature.

Results

Developmental anomalies were observed. In particular, a single orbit and optical canal were present, and the frontal, sphenoid and palatine bones were prematurely fused. These changes altered the normal morphology of the midline structures of the cranium and face.

Conclusions

The developmental anomalies observed are consistent with a case of holoprosencephaly associated with cyclopia.

Significance

Holoprosencephaly is a fatal congenital condition caused by the failure of the prosencephalon to separate in two halves. This condition is clinically well-known, with an estimated modern incidence of 1/16,000 births; however, the paleopathological literature lacks reports that would help anthropologists and paleopathologists interpret these anomalous signs on dry bone. This report documents a rare paleopathological case of the condition on a full-term fetus from a modern skeletal collection.

Limitations

Taphonomic and anthropic factors may have impaired the observation of all pathological features.

Suggestions for further research

Comparative studies with cases from documented collections could improve knowledge of the appearance of this condition on dry bones.

中文翻译：

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来自现代骨骼收藏的足月胎儿的全前脑畸形和独眼畸形的可能病例

客观的

这项研究提供了一个可能的全前脑畸形伴独眼病例的证据，这在古病理学文献中很少报道。

材料

研究了来自Collezione Antropologica LABANOF (CAL) Milano Cemetery Skeletal Collection 的36 至 40 孕周男性胎儿的骨骼遗骸。

方法

对骨骼进行宏观检查，并与古病理学和临床文献一起记录和评估病理异常。

结果

观察到发育异常。特别是存在单眼眶和光管，额骨、蝶骨和腭骨过早融合。这些变化改变了颅骨和面部中线结构的正常形态。

结论

观察到的发育异常与与独眼相关的全前脑症病例一致。

意义

Holoprosencephaly 是一种致命的先天性疾病，由前脑无法分成两半而引起。这种情况在临床上是众所周知的，估计现代发病率为 1/16,000；然而，古病理学文献缺乏可以帮助人类学家和古病理学家解释干骨上这些异常迹象的报告。这份报告记录了一个罕见的古病理学案例，该病例来自现代骨骼收集的足月胎儿。

限制

基因和人为因素可能会影响对所有病理特征的观察。

进一步研究的建议

与文献收集的案例进行比较研究可以提高对这种情况在干骨上的表现的了解。