A case of neonatal osteofibrous dysplasia with novel CDK12 and DDR2 mutations

Osteofibrous dysplasia [OFD] is a rare, benign pediatric fibro-osseous lesion that exclusively arises in the lower limbs. Apart from the limited number of familial OFD cases with MET mutation, no other genetic aberrations have been identified. Herein, we report a case of OFD in a four-month- old gir...

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Autores principales: Alodaini, Amal A., Abusultan, Ammar, Altarooti, Noor A., Aldossari, Asma, Hegazi, Tarek M., Alomran, Ammar K., Awadalla, Awadia S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9982453/
https://www.ncbi.nlm.nih.gov/pubmed/36875508
http://dx.doi.org/10.1016/j.bonr.2023.101666
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author Alodaini, Amal A.
Abusultan, Ammar
Altarooti, Noor A.
Aldossari, Asma
Hegazi, Tarek M.
Alomran, Ammar K.
Awadalla, Awadia S.
author_facet Alodaini, Amal A.
Abusultan, Ammar
Altarooti, Noor A.
Aldossari, Asma
Hegazi, Tarek M.
Alomran, Ammar K.
Awadalla, Awadia S.
author_sort Alodaini, Amal A.
collection PubMed
description Osteofibrous dysplasia [OFD] is a rare, benign pediatric fibro-osseous lesion that exclusively arises in the lower limbs. Apart from the limited number of familial OFD cases with MET mutation, no other genetic aberrations have been identified. Herein, we report a case of OFD in a four-month- old girl's leg with novel cyclin-dependent kinase 12 and discoidin domain receptor 2 gene mutations. Further studies to understand their role in the pathogenesis and clinical utility are needed.
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spelling pubmed-99824532023-03-04 A case of neonatal osteofibrous dysplasia with novel CDK12 and DDR2 mutations Alodaini, Amal A. Abusultan, Ammar Altarooti, Noor A. Aldossari, Asma Hegazi, Tarek M. Alomran, Ammar K. Awadalla, Awadia S. Bone Rep Case Report Osteofibrous dysplasia [OFD] is a rare, benign pediatric fibro-osseous lesion that exclusively arises in the lower limbs. Apart from the limited number of familial OFD cases with MET mutation, no other genetic aberrations have been identified. Herein, we report a case of OFD in a four-month- old girl's leg with novel cyclin-dependent kinase 12 and discoidin domain receptor 2 gene mutations. Further studies to understand their role in the pathogenesis and clinical utility are needed. Elsevier 2023-02-23 /pmc/articles/PMC9982453/ /pubmed/36875508 http://dx.doi.org/10.1016/j.bonr.2023.101666 Text en © 2023 The Authors https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
spellingShingle Case Report
Alodaini, Amal A.
Abusultan, Ammar
Altarooti, Noor A.
Aldossari, Asma
Hegazi, Tarek M.
Alomran, Ammar K.
Awadalla, Awadia S.
A case of neonatal osteofibrous dysplasia with novel CDK12 and DDR2 mutations
title A case of neonatal osteofibrous dysplasia with novel CDK12 and DDR2 mutations
title_full A case of neonatal osteofibrous dysplasia with novel CDK12 and DDR2 mutations
title_fullStr A case of neonatal osteofibrous dysplasia with novel CDK12 and DDR2 mutations
title_full_unstemmed A case of neonatal osteofibrous dysplasia with novel CDK12 and DDR2 mutations
title_short A case of neonatal osteofibrous dysplasia with novel CDK12 and DDR2 mutations
title_sort case of neonatal osteofibrous dysplasia with novel cdk12 and ddr2 mutations
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9982453/
https://www.ncbi.nlm.nih.gov/pubmed/36875508
http://dx.doi.org/10.1016/j.bonr.2023.101666
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