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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Detalles Bibliográficos
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
Descripción
Sumario: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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