Majewski/Microcephalic Osteodysplastic Primordial Dwarfism Type II (MOPDII) with generalised microdontia in the 4th millennium BCE Eastern Mediterranean

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Abstract

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).

Introduction

Dwarfism is a term used to describe abnormally short stature, more than three standard deviations lower than the mean height for age and sex (Dasen, 1988; Waldron, 2009). Over 200 conditions have been associated with dwarfism, however, few have been noted in the archaeological record (Goldstein and Naglieri, 2010). Dwarfing conditions are generally classified on the basis of their physical characteristics, separated into two general categories: proportionate, meaning short stature with normal proportions, or disproportionate, meaning short stature characterized by disproportionate shortening of one or more body parts (Chaudhary and Bano, 2012; Goldstein and Naglieri, 2010). The latter can be rhizomelic (affecting humeri and femora), mesomelic (affecting forearms and lower legs), and/or acromelic (affecting hands and feet) (Joseph, 2015). The earliest example of dwarfism in the archaeological record, dated to the Upper Paleolithic period, was a case of acromesomelic dysplasia, a form of disproportionate dwarfism. The individual is known as Romito 2, having been named after the site of discovery Riparo del Romito in Italy (Frayer et al., 1988). Such conditions related to disproportionate dwarfism are commonly cited in the archaeological record, whereas evidence of proportionate dwarfism is scarce. This paper evaluates the occurrence of proportionate osteodysplasia with generalised microdontia, a dental abnormality that is characterised by dentition that is morphologically the same/similar to normal dentition, but significantly smaller in size (Mathar et al., 2019) in human remains from a Chalcolithic cemetery with early evidence of metalworking in Cyprus (Souskiou-Laona; 3500-2800 BCE). To our knowledge, this is the only known evidence of Majewski/Microcephalic Osteodysplastic Primordial Dwarfism Type II (MOPDII), as well as generalised microdontia in the archaeological record. Significantly, this case adds to the growing number of proportionate dwarfism cases known archaeologically, and thus, the evidence presented enriches the current knowledge of rare conditions in the past. It also suggests that mutations of the pericentrin (PCNT) gene were present in this early period.

Section snippets

Materials and methods

The Souskiou-Laona cemetery is part of a wider complex of sites located in the south-western region of Cyprus. This complex is made up of a settlement and four cemeteries, all of which date to the Middle Chalcolithic period (3500-2800 BCE; Fig. 1; Peltenburg, 2019). In total, 26 tombs with archaeologically intact burial layers were excavated, the majority of which were small shaft tombs (Crewe, 2019). These yielded intact fully articulated skeletons, partially articulated skeletons, and

Results

Age estimation based on epiphyseal fusion stage is challenging due to the poor preservation of the skeleton. Only the distal end of the left humerus is preserved enough, from which it is noted that fusion is complete. According to Scheuer and Black (2004), fusion of the distal end of the left humerus occurs between 11–15 years in females and 12–17 years in males. However, further assessment of the dentition and state of dental eruption suggests the individual is slightly older. In particular,

Discussion

The presence of generalised microndontia, together with short stature, points to specific possible aetiologies (Table 2). No other individuals from the Souskiou-Laona cemetery presented similar dental abnormalities. Bioarchaeologically, the evidence for microdontia is scarce and the presentation is varied (Supplementary Data A). True generalised microdontia is extremely rare, and is sometimes observed in individuals with pituitary dwarfism or Majewski/Microcephalic Osteodysplastic Primordial

Conclusion

This paper presents a differential diagnosis of generalised microdontia and proportionate osteodysplasia in a Chalcolithic individual from Cyprus. This is the first case of MOPDII in the archaeological record worldwide, and it is the oldest case of proportionate dwarfism known to date. Importantly, 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.

Acknowledgements

KL acknowledges the Department of Antiquities, Cyprus, for facilitating access to the skeletal remains analysed, and for its continuous support, and the invitation from Professor Edgar Peltenburg to study the Souskiou-Laona skeletal material. The authors acknowledge the financial support of the FF-MAC project (Face to Face: Meet an Ancient Cypriot project), which is co-financed by the European Regional Development Fund and the Republic of Cyprus through the Research and Innovation Foundation

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