Paleopathological diagnosis of a proportionate short stature on a female skeleton from the Coimbra collection: Turner syndrome versus other causes

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.