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Majewski/Microcephalic Osteodysplastic Primordial Dwarfism Type II (MOPDII) with generalised microdontia in the 4th millennium BCE Eastern Mediterranean
International Journal of Paleopathology ( IF 1.2 ) Pub Date : 2021-05-03 , DOI: 10.1016/j.ijpp.2021.04.001
Kirsi O Lorentz 1 , Natalie M Branca 1 , Simone A M Lemmers 1
Affiliation  

Objective

This research evaluates the occurrence of generalised microdontia and proportionate osteodysplasia in human remains from a Chalcolithic cemetery with early evidence of metalworking in Cyprus (Souskiou-Laona; 3500-2800 BCE).

Materials

Skeletal and dental remains from Tomb 236 Individual A, in comparison with other human remains from Souskiou-Laona (MNI: 203).

Methods

Macroscopic, microscopic, and metric observation of osteodysplasia and microdontia.

Results

Smaller than usual permanent teeth and adult long bones were discovered, with epiphyseal fusion complete. The cranium, and the zygomatic bones were smaller than other adult remains.

Conclusions

Differential diagnosis includes pituitary dwarfism and Majewski/Microcephalic Osteodysplastic Primordial Dwarfism Type II (MOPDII), which are two types of proportionate dwarfism with presentation of microdontia. This individual appears to display skeletal changes consistent with Majewski/Microcephalic Osteodysplastic Primordial Dwarfism Type II.

Significance

This is the first case of MOPDII in the archaeological record worldwide, and it is the oldest case of proportionate dwarfism known to date. The presence of an adult probable female with primordial dwarfism at Chalcolithic cemetery of Souskiou-Laona indicates that mutations of the pericentrin (PCNT) gene were present in this early period.

Limitations

The remains of the individual were incomplete and poorly preserved.

Suggestions for further research

Histology may lead to more detailed information on the individual’s age and life story (osteobiography).



中文翻译:

Majewski/Microcephalic Osteodysplastic Primordial Dwarfism II 型 (MOPDII) 与公元前 4 世纪东地中海的全身小牙

客观的

这项研究评估了在塞浦路斯(Souskiou-Laona;公元前 3500-2800 年)具有早期金属加工证据的铜石墓地人类遗骸中普遍性小牙和成比例的骨发育不良的发生。

材料

来自 Tomb 236 个体 A 的骨骼和牙齿遗骸,与来自 Souskiou-Laona 的其他人类遗骸进行比较(MNI:203)。

方法

骨发育不良和小牙畸形的宏观、微观和度量观察。

结果

发现比平常小的恒牙和成人长骨,骨骺融合完成。颅骨和颧骨比其他成人遗骸小。

结论

鉴别诊断包括垂体性侏儒症和 Majewski/Microcephalic Osteodysplastic Primordial Dwarfism Type II (MOPDII),这是两种类型的比例性侏儒症,表现为小齿畸形。此人似乎显示出与 Majewski/小头骨发育不良原始侏儒症 II 型一致的骨骼变化。

意义

这是全球考古记录中第一例 MOPDII 病例,也是迄今为止已知的最古老的成比例侏儒症病例。在 Souskiou-Laona 的 Chalcolithic 公墓中存在一名可能患有原始侏儒症的成年女性,这表明在这个早期阶段存在着 pericentrin (PCNT) 基因的突变。

限制

个人遗骸不完整且保存不善。

进一步研究的建议

组织学可能会提供有关个人年龄和生活故事(骨传)的更详细信息。

更新日期:2021-05-03
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