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A case of dwarfism in 6th century Italy: Bioarchaeological assessment of a hereditary disorder.

作者信息

Traversari Mirko, Da Via Silvia, Petrella Enrico, Feeney Robin N M, Benazzi Stefano

机构信息

Laboratories of Physical Anthropology and Ancient DNA, Department of Cultural Heritage, University of Bologna, via Degli Ariani 1, 48121, Ravenna, Italy.

Laboratories of Physical Anthropology and Ancient DNA, Department of Cultural Heritage, University of Bologna, via Degli Ariani 1, 48121, Ravenna, Italy.

出版信息

Int J Paleopathol. 2020 Sep;30:110-117. doi: 10.1016/j.ijpp.2020.03.003. Epub 2020 Jun 30.

DOI:10.1016/j.ijpp.2020.03.003
PMID:32619963
Abstract

OBJECTIVE

The skeletal remains of a short-statured individual (T17) are described and a differential diagnosis performed to determine the etiology of the condition.

MATERIALS

An individual considered pathologically short in stature was discovered in the burial site of Piazza XX Settembre, Modena (northern Italy).

METHODS

Morphological and morphometric analyses were performed, and T17 was compared to dwarfs from other localities and periods and to the adult female population from the same site. A paleopathological survey was undertaken to assess the degree of the skeletal elements of T17 were affected.

RESULTS

T17 was a female, 20-30 years of age at death, with a stature of 128 cm and disproportionate dwarfism associated with congenital skeletal dysplasia.

CONCLUSIONS

T17 likely affected by a form of hypochondroplasia.

SIGNIFICANCE

Anatomical consequences of hypochondroplasia are presented, and the timeframe and associated burial goods suggest a 6th-century Lombard short stature belonging to one of the earliest Lombard settlements in Italy.

SUGGESTIONS FOR FURTHER RESEARCH

Future genetic analysis would resolve if the mutation in the type 3 fibroblast growth factor receptor (FGFR3) is present in the remains of T17; however, it is not exclusivly linked to hypochondroplasia.

摘要

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