A case of neonatal osteofibrous dysplasia with novel CDK12 and DDR2 mutations
Amal A Alodaini1, Ammar Abusultan2, Noor A Altarooti2
1Pathology Department, King Fahd University Hospital, Imam Abdulrahman Bin Faisal University, 31441 Dammam, P.O. Box 1982, Kingdom of Saudi Arabia.
Bone Reports
|March 6, 2023
Abstract:
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.


