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dc.contributor.author
Arrieta, Mario Alberto
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dc.contributor.author
Ramos Gaspar, Rosa
dc.contributor.author
Santos, Ana Luisa
dc.date.available
2022-02-18T14:14:22Z
dc.date.issued
2021-06
dc.identifier.citation
Arrieta, Mario Alberto; Ramos Gaspar, Rosa; Santos, Ana Luisa; Paleopathological diagnosis of a proportionate short stature on a female skeleton from the Coimbra collection: Turner syndrome versus other causes; Elsevier; International Journal of Paleopathology; 33; 6-2021; 234-244
dc.identifier.issn
1879-9817
dc.identifier.uri
http://hdl.handle.net/11336/152295
dc.description.abstract
Objective: This paper discusses the possible etiologies for the proportionate short stature of a female individual and provides data to allow the diagnosis of future cases of Turner Syndrome (TS) in paleopathology. Materials: Skeleton of a 26-years-old maid, from the Coimbra Identified Skeletal Collection, who died of measles in 1920. Methods: Macroscopic examination, imaging techniques, and metric analysis. Results: Her estimated height is 138.91–144.3 cm, approximately three standard deviations below the average female stature for early 20th century Portugal. The crural, brachial, humero-femoral, and intermembral indexes show a proportionate body, uncommon in dwarfism. Small skull with prominent frontal, maxillary prognathism, enamel hypoplasia, cribra orbitalia, porotic hyperostosis, proliferative reaction in the petrous portion of the temporal, obliterated sagittal suture, oval foramen magnum, and small mandible with masculine features. The sternal ends of the ribs are wider and vertebrae present developmental defects (e.g. atlas with both left transverse foramina and posterior tubercle open, absence of the right transverse foramen in the axis, sacrum with six vertebrae). Conclusions: The differential diagnosis point to a possible case of Turner Syndrome. Significance: This study describes the features of Turner Syndrome and provide detail metric analysis of this individual, which will be useful for future paleopathological diagnoses. Limitations: The confirmation of the diagnosis will only be possible through genetic analysis. Suggestions for further research: Reanalysis of skeletal individuals with short stature to detect possible cases of Turner Syndrome.
dc.format
application/pdf
dc.language.iso
eng
dc.publisher
Elsevier
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dc.rights
info:eu-repo/semantics/restrictedAccess
dc.rights.uri
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
dc.subject
ANCIENT RARE DISEASE (ARD)
dc.subject
GENETIC DISORDER
dc.subject
GROWTH DISORDER
dc.subject
PORTUGAL
dc.subject.classification
Otras Historia y Arqueología
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dc.subject.classification
Historia y Arqueología
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dc.subject.classification
HUMANIDADES
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dc.title
Paleopathological diagnosis of a proportionate short stature on a female skeleton from the Coimbra collection: Turner syndrome versus other causes
dc.type
info:eu-repo/semantics/article
dc.type
info:ar-repo/semantics/artículo
dc.type
info:eu-repo/semantics/publishedVersion
dc.date.updated
2022-02-09T14:17:44Z
dc.journal.volume
33
dc.journal.pagination
234-244
dc.journal.pais
Países Bajos
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dc.journal.ciudad
Ámsterdam
dc.description.fil
Fil: Arrieta, Mario Alberto. Universidad Nacional de Río Cuarto; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Córdoba; Argentina
dc.description.fil
Fil: Ramos Gaspar, Rosa. Hospitais da Universidade de Coimbra; Portugal. Universidad de Coimbra; Portugal
dc.description.fil
Fil: Santos, Ana Luisa. Universidad de Coimbra; Portugal
dc.journal.title
International Journal of Paleopathology
dc.relation.alternativeid
info:eu-repo/semantics/altIdentifier/url/https://www.sciencedirect.com/science/article/abs/pii/S1879981721000309
dc.relation.alternativeid
info:eu-repo/semantics/altIdentifier/doi/http://dx.doi.org/10.1016/j.ijpp.2021.05.002
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