Paleopathological diagnosis of a proportionate short stature on a female skeleton from the Coimbra collection: Turner syndrome versus other causes
Autor: | Ana Luísa Santos, Rosa Ramos Gaspar, Mario A. Arrieta |
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Rok vydání: | 2020 |
Předmět: |
Adult
Archeology Paleopathology Turner Syndrome Dwarfism Short stature Pathology and Forensic Medicine Turner syndrome Foramen medicine Humans 0601 history and archaeology Proportionate short stature 060101 anthropology 060102 archaeology business.industry 06 humanities and the arts Anatomy Enamel hypoplasia medicine.disease Sacrum Body Height Spine Sagittal suture medicine.anatomical_structure Female medicine.symptom business Porotic hyperostosis |
Zdroj: | International journal of paleopathology. 33 |
ISSN: | 1879-9825 |
Popis: | 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. |
Databáze: | OpenAIRE |
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