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Trabecular bone microarchitecture analysis, a way for an early detection of genetic dwarfism? Case study of a dwarf mother’s offspring

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Colombo,  Antony       
Department of Human Evolution, Max Planck Institute for Evolutionary Anthropology, Max Planck Society;

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Coqueugniot,  Hélène       
Department of Human Evolution, Max Planck Institute for Evolutionary Anthropology, Max Planck Society;

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Citation

Colombo, A., Hoogland, M., Coqueugniot, H., Dutour, O., & Waters-Rist, A. (2018). Trabecular bone microarchitecture analysis, a way for an early detection of genetic dwarfism? Case study of a dwarf mother’s offspring. International Journal of Paleopathology, 20, 65-71. doi:10.1016/j.ijpp.2017.12.002.


Cite as: https://hdl.handle.net/21.11116/0000-0000-EEBE-F
Abstract
A 66 year-old woman with a disproportionate dwarfism and who bore seven children was discovered at the Middenbeemster archaeological site (The Netherlands). Three are perinates and show no macroscopic or radiological evidence for a FGFR3 mutation causing hypo-or achondroplasia. This mutation induces dysfunction of the growth cartilage, leading to abnormalities in the development of trabecular bone. Because the mutation is autosomal dominant, these perinates have a 50% risk of having been affected. This study determines whether trabecular bone microarchitecture (TBMA) analysis is useful for detecting genetic dwarfism. Proximal metaphyses of humeri were μCT-scanned with a resolution of 7–12 μm. Three volumes of interest were segmented from each bone with TIVMI© software. The TBMA was quantified in BoneJ© using six parameters on which a multivariate analysis was then performed. Two of the Middenbeemster perinates show a quantitatively different TBMA organization. These results and the family’s medical history suggest a diagnosis of genetic dwarfism for this two perinates. This study provides evidence to support the efficacy of μCT for diagnosing early-stage bone disease.