Trabecular bone microarchitecture analysis, a way for an early detection of genetic dwarfism? Case study of a dwarf mother’s offspring
Antony Colombo
(1, 2, 3)
,
Menno Hoogland
(4)
,
Hélène Coqueugniot
(1, 2, 3)
,
Olivier Dutour
(1, 2, 4)
,
Andrea Waters-Rist
(4, 5)
Antony Colombo
- Fonction : Auteur
- PersonId : 774200
- IdHAL : antony-colombo
- ORCID : 0000-0002-8855-7502
- IdRef : 185906346
Hélène Coqueugniot
- Fonction : Auteur
- PersonId : 738519
- IdHAL : helene-coqueugniot
- ORCID : 0000-0002-1844-4588
- IdRef : 052619230
Olivier Dutour
- Fonction : Auteur
- PersonId : 792178
- ORCID : 0000-0001-8134-788X
- IdRef : 029722756
Résumé
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.
Domaines
Anthropologie biologiqueFormat du dépôt | Notice |
---|---|
Type de dépôt | Article dans une revue |
Titre |
en
Trabecular bone microarchitecture analysis, a way for an early detection of genetic dwarfism? Case study of a dwarf mother’s offspring
|
Résumé |
en
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.
|
Auteur(s) |
Antony Colombo
1, 2, 3
, Menno Hoogland
4
, Hélène Coqueugniot
1, 2, 3
, Olivier Dutour
1, 2, 4
, Andrea Waters-Rist
4, 5
1
EPHE -
École Pratique des Hautes Études
( 110691 )
- 4-14 Rue Ferrus, 75014 Paris
- France
2
PACEA -
De la Préhistoire à l'Actuel : Culture, Environnement et Anthropologie
( 205557 )
- Université de Bordeaux - Bâtiment B8 - CS50023 - Allée Geoffroy-Saint-Hilaire - 33615 Pessac Cedex
- France
3
Max Planck Institute for Evolutionary Anthropology [Leipzig]
( 308156 )
- Deutscher Pl. 6, 04103 Leipzig
- Allemagne
4
UWO -
University of Western Ontario
( 318728 )
- 1151 Richmond St, London, ON, N6A 3K7, Canada
- Canada
5
Universiteit Leiden = Leiden University
( 121723 )
- Leiden University | 2300 RA Leiden
The Netherlands
- Pays-Bas
|
Langue du document |
Anglais
|
Nom de la revue |
|
Vulgarisation |
Non
|
Comité de lecture |
Oui
|
Audience |
Internationale
|
Volume |
20
|
Page/Identifiant |
65-71
|
Licence |
Paternité - Pas d'utilisation commerciale - Pas de modification
|
Date de publication |
2018-03
|
Date de publication électronique |
2017-12-14
|
Domaine(s) |
|
Projet(s) ANR |
|
Mots-clés |
en
Genetic dwarfism, Trabecular bone microarchitecture, Micro-computed tomography, Human growth
|
DOI | 10.1016/j.ijpp.2017.12.002 |
Pubmed Id | 29496218 |
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