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


Journal

International journal of paleopathology
ISSN: 1879-9825
Titre abrégé: Int J Paleopathol
Pays: Netherlands
ID NLM: 101562474

Informations de publication

Date de publication:
09 2020
Historique:
received: 17 09 2019
revised: 24 03 2020
accepted: 24 03 2020
pubmed: 4 7 2020
medline: 21 10 2021
entrez: 4 7 2020
Statut: ppublish

Résumé

The skeletal remains of a short-statured individual (T17) are described and a differential diagnosis performed to determine the etiology of the condition. An individual considered pathologically short in stature was discovered in the burial site of Piazza XX Settembre, Modena (northern Italy). 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. 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. T17 likely affected by a form of hypochondroplasia. 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. 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.

Identifiants

pubmed: 32619963
pii: S1879-9817(20)30018-8
doi: 10.1016/j.ijpp.2020.03.003
pii:
doi:

Types de publication

Case Reports Historical Article Journal Article

Langues

eng

Sous-ensembles de citation

IM

Pagination

110-117

Informations de copyright

Copyright © 2020 Elsevier Inc. All rights reserved.

Auteurs

Mirko Traversari (M)

Laboratories of Physical Anthropology and Ancient DNA, Department of Cultural Heritage, University of Bologna, via Degli Ariani 1, 48121, Ravenna, Italy. Electronic address: mirko.traversari@gmail.com.

Silvia Da Via (S)

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

Enrico Petrella (E)

Department of Radiology, AUSL Romagna, Morgagni-Pierantoni City Hospital, via Carlo Forlanini 34, 47121, Forlì, Italy.

Robin N M Feeney (RNM)

UCD School of Medicine, Health Science Centre, University College Dublin, Belfield, Dublin 4, Ireland.

Stefano Benazzi (S)

Laboratories of Physical Anthropology and Ancient DNA, Department of Cultural Heritage, University of Bologna, via Degli Ariani 1, 48121, Ravenna, Italy; Department of Human Evolution, Max Planck Institute for Evolutionary Anthropology, Deutscher Platz 6, 04103, Leipzig, Germany.

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Classifications MeSH