Related Experiment Video
Updated: Aug 9, 2026
Outer-Boundary Assisted Segmentation and Quantification of Trabecular Bones by an Imagej Plugin
Published on: March 14, 2018
Trabecular bone microarchitecture analysis, a way for an early detection of genetic dwarfism? Case study of a dwarf
Antony Colombo1, Menno Hoogland2, Hélène Coqueugniot1
1École Pratique des Hautes Etudes, PSL Research University Paris, Chaire d'anthropologie biologique Paul Broca, France; UMR 5199 PACEA, University of Bordeaux, CNRS, MCC, LabEx Sciences archéologiques de Bordeaux, n°ANR-10-LABX-52, bât B8, allée Geoffroy Saint Hilaire, CS50023, F-33615 Pessac, France; Max Planck Institute for Evolutionary Anthropology, Department of Human Evolution, Deutscher Platz 6, D-04103 Leipzig, Germany.
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.
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.
