%0 Journal Article
%A Colombo, Antony
%A Hoogland, Menno
%A Coqueugniot, Hélène
%A Dutour, Olivier
%A Waters-Rist, Andrea
%+ Department of Human Evolution, Max Planck Institute for Evolutionary Anthropology, Max Planck Society
Department of Human Evolution, Max Planck Institute for Evolutionary Anthropology, Max Planck Society
%T Trabecular bone microarchitecture analysis, a way for an early detection of genetic dwarfism? Case study of a dwarf mother’s offspring : 
%G eng
%U https://hdl.handle.net/21.11116/0000-0000-EEBE-F
%R 10.1016/j.ijpp.2017.12.002
%D 2018
%* Review method: peer-reviewed
%X 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.
%K Genetic dwarfism, Human growth, Micro-computed tomography, Trabecular bone microarchitecture
%J International Journal of Paleopathology
%O International Journal of Paleopathology
%V 20
%& 65
%P 65 - 71
%I Elsevier
%@ 1879-9817