Calvarial doughnut lesions with bone fragility in a French-Canadian family; case report and review of the literature.
Bone fragility
Calvarial doughnut lesions with bone fragility
SGMS2
Skeletal dysplasia
Journal
Bone reports
ISSN: 2352-1872
Titre abrégé: Bone Rep
Pays: United States
ID NLM: 101646176
Informations de publication
Date de publication:
Dec 2021
Dec 2021
Historique:
received:
04
05
2021
revised:
03
08
2021
accepted:
20
08
2021
entrez:
10
9
2021
pubmed:
11
9
2021
medline:
11
9
2021
Statut:
epublish
Résumé
Calvarial Doughnut Lesions with Bone Fragility (CDL) is an autosomal dominant genetic disease, characterized by low bone mineral density, multiple fractures starting in childhood, and sclerotic doughnut-shaped lesions in the cranial bones. Aubé and colleagues described in 1988 a French-Canadian family of 12 affected members who had a clinical diagnosis of doughnut lesions of the skull, with pathological fractures, osteopenia, "bone in bone" in the vertebral bodies and squaring of metatarsal and metacarpal bones. Herein we study new members of this family. Sequential genetic testing identified a nonsense variant c.148C>T, p. Arg50
Identifiants
pubmed: 34504906
doi: 10.1016/j.bonr.2021.101121
pii: S2352-1872(21)00378-8
pmc: PMC8414042
doi:
Types de publication
Case Reports
Langues
eng
Pagination
101121Informations de copyright
© 2021 Published by Elsevier Inc.
Déclaration de conflit d'intérêts
The authors declare no conflict of interest.
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