A case of dwarfism in 6th century Italy: Bioarchaeological assessment of a hereditary disorder.
Achondroplasia
Dwarfism
Hypochondroplasia
Skeletal dysplasia
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
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
110-117Informations de copyright
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