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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

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.
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https://halshs.archives-ouvertes.fr/halshs-02162391
Contributor : Hélène Coqueugniot <>
Submitted on : Friday, June 21, 2019 - 5:17:13 PM
Last modification on : Thursday, November 12, 2020 - 7:12:28 PM

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Antony Colombo, Menno Hoogland, Hélène Coqueugniot, Olivier Dutour, Andrea Waters-Rist. 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, Elsevier, 2018, 20, pp.65-71. ⟨halshs-02162391⟩

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