Titre :

Microcomputed tomography and genetic analysis of a rare case of Caffey's disease in a 5–7‐month‐old girl

Auteur(s) :

Lombardo, Daniela [Auteur]
Marrow Adiposity & Bone Lab - Adiposité Médullaire et Os - ULR 4490 [MABLab]
Modi, Alessandra [Auteur]
Vergata, Chiara [Auteur]
Caramelli, David [Auteur]
Pascart, Tristan [Auteur]
Marrow Adiposity & Bone Lab - Adiposité Médullaire et Os - ULR 4490 [MABLab]
Bertrand, Benoit [Auteur]
Vetro, Annalisa [Auteur]
Lari, Martina [Auteur]
Colard, Thomas [Auteur]

Titre de la revue :

International Journal of Osteoarchaeology

Pagination :

854-859

Éditeur :

Wiley

Date de publication :

2019-07-17

ISSN :

1047-482X

Discipline(s) HAL :

Sciences du Vivant [q-bio]

Résumé en anglais : [en]

Abstract Ancient human remains provided precious information about the health and disease of individuals from the past. Usually, diagnosis and assessment of the paleopathological remains were performed using RX analysis, ...
Lire la suite >Abstract Ancient human remains provided precious information about the health and disease of individuals from the past. Usually, diagnosis and assessment of the paleopathological remains were performed using RX analysis, tomography, and histology. However, thanks to the progress in ancient DNA recovery and sequencing, genetic information can used to support the diagnoses performed using classical approach. Here, we described the paleopathological remains of a 5 to 7‐month infant, excavated from Saint‐Jacques church (Douai, France), dated from 16th to 18th century. The skeleton displayed bone lesions, consisting in a massive corticoperiosteal thickening with subperiosteal new bone formation. To investigate the pathological condition of the remains, we applied a combined approach using both microcomputed tomography and paleogenetic analysis. Among several pathologies, we proposed a potential diagnosis of Caffey's disease (Infantile Cortical Hyperostosis, ICH), a rare genetic infantile pathology that causes a massive subperiosteal new bone formation in some diagnostic skeletal districts. Association of the disease with the COL1A1 gene on chromosome 17q21 has been highlighted in several familial cases, whereas other evidences suggest genetic heterogeneity of ICH. Although the osteological clinical picture was compatible with Caffey's disease, we did not find evidence of the mutated allele in COL1A1 gene, suggesting a diagnosis of ICH caused by a different genetic mutation. Our study represents one of the first documented historical case of Caffey's disease and highlights the contribution of paleopathological studies for a better knowledge of human diseases.Lire moins >

Langue :

Anglais

Comité de lecture :

Oui

Audience :

Internationale

Vulgarisation :

Non

Collections :

• Marrow Adiposity & Bone Lab (MABLab) - ULR 4490

Source :

Harvested from HAL