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

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).

Keywords: Growth retardation; Microcephaly; Micrognathy.