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Basalom S, Fiscaletti M, Miranda V, et al. Calvarial doughnut lesions with bone fragility in a French-Canadian family; case report and review of the literature. Bone Rep. 2021;15:101121doi: 10.1016/j.bonr.2021.101121.
Basalom, S., Fiscaletti, M., Miranda, V., Huber, C., Couture, G., Drouin, R., Monceau, �. �., Wavrant, S., Dubé, J., Mäkitie, O., Cormier-Daire, V., & Campeau, P. M. (2021). Calvarial doughnut lesions with bone fragility in a French-Canadian family; case report and review of the literature. Bone reports, 15101121. https://doi.org/10.1016/j.bonr.2021.101121
Basalom, Shuaa, et al. "Calvarial doughnut lesions with bone fragility in a French-Canadian family; case report and review of the literature." Bone reports vol. 15 (2021): 101121. doi: https://doi.org/10.1016/j.bonr.2021.101121
Basalom S, Fiscaletti M, Miranda V, Huber C, Couture G, Drouin R, Monceau É, Wavrant S, Dubé J, Mäkitie O, Cormier-Daire V, Campeau PM. Calvarial doughnut lesions with bone fragility in a French-Canadian family; case report and review of the literature. Bone Rep. 2021 Aug 25;15:101121. doi: 10.1016/j.bonr.2021.101121. eCollection 2021 Dec. PMID: 34504906; PMCID: PMC8414042.
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Bone Rep. 2021 Aug 25;15:101121. doi: 10.1016/j.bonr.2021.101121. eCollection 2021 Dec.

Calvarial doughnut lesions with bone fragility in a French-Canadian family; case report and review of the literature.

Bone reports

Shuaa Basalom, Mélissa Fiscaletti, Valancy Miranda, Céline Huber, Guillaume Couture, Régen Drouin, Élise Monceau, Sandrine Wavrant, Johanne Dubé, Outi Mäkitie, Valérie Cormier-Daire, Philippe M Campeau

Affiliations

  1. Division of Medical Genetics, Department of Specialized Medicine, McGill University Health Center, Montreal, QC H4A 3J1, Canada.
  2. Department of Pediatrics, CHU Sainte-Justine, Montreal, QC H3T 1C5, Canada.
  3. Medical Genetics Division, Department of Pediatrics, CHU Sainte-Justine, Montreal, QC H3T 1C5, Canada.
  4. Department of Medical Genetics, INSERM UMR 1163, Paris Descartes-Sorbonne Paris Cité University, IMAGINE Institute, Necker Enfants Malades Hospital, Paris, France.
  5. Centre de rhumatologie, CHU Purpan, 31300 Toulouse, France.
  6. Division of Medical Genetics, Department of Pediatrics, CHU de Quebec - ULaval, Faculty of Medicine, Université Laval, Quebec City, Canada.
  7. Department of Obstetrics and Gynecology, CHU Sainte-Justine, Montreal, QC H3T 1C5, Canada.
  8. Children's Hospital and Pediatric Research Center, University of Helsinki and Helsinki University Hospital, FI-00014 Helsinki, Finland.
  9. Centre de référence MOC, hôpital Necker, 75015 Paris, France.

PMID: 34504906 PMCID: PMC8414042 DOI: 10.1016/j.bonr.2021.101121

Abstract

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

© 2021 Published by Elsevier Inc.

Keywords: Bone fragility; Calvarial doughnut lesions with bone fragility; SGMS2; Skeletal dysplasia

Conflict of interest statement

The authors declare no conflict of interest.

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