% pubman genre = article @article{item_2565123, title = {{Trabecular bone microarchitecture analysis, a way for an early detection of genetic dwarfism? Case study of a dwarf mother{\textquoteright}s offspring}}, author = {Colombo, Antony and Hoogland, Menno and Coqueugniot, H{\'e}l{\`e}ne and Dutour, Olivier and Waters-Rist, Andrea}, language = {eng}, issn = {1879-9817}, doi = {10.1016/j.ijpp.2017.12.002}, publisher = {Elsevier}, year = {2018}, date = {2018-03}, 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{\textpercent} 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 $\mu$CT-scanned with a resolution of 7{\textendash}12 $\mu$m. Three volumes of interest were segmented from each bone with TIVMI{\copyright} software. The TBMA was quantified in BoneJ{\copyright} 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{\textquoteright}s medical history suggest a diagnosis of genetic dwarfism for this two perinates. This study provides evidence to support the efficacy of $\mu$CT for diagnosing early-stage bone disease.}}, journal = {{International Journal of Paleopathology}}, volume = {20}, pages = {65--71}, }