A case of neonatal osteofibrous dysplasia with novel CDK12 and DDR2 mutations
Amal A. Alodaini,
Ammar Abusultan,
Noor A. Altarooti,
Asma Aldossari,
Tarek M. Hegazi,
Ammar K. Alomran,
Awadia S. Awadalla
Affiliations
Amal A. Alodaini
Pathology Department, King Fahd University Hospital, Imam Abdulrahman Bin Faisal University, 31441 Dammam, P.O. Box 1982, Kingdom of Saudi Arabia; Corresponding author at: Imam Abdulrahman Bin Faisal University, Eastern Campus VC-13, Dammam 7135, Kingdom of Saudi Arabia.
Ammar Abusultan
Orthopedic surgery Department, King Fahd University Hospital, Imam Abdulrahman Bin Faisal University, 31441 Dammam, P.O. Box 1982, Kingdom of Saudi Arabia
Noor A. Altarooti
Orthopedic surgery Department, King Fahd University Hospital, Imam Abdulrahman Bin Faisal University, 31441 Dammam, P.O. Box 1982, Kingdom of Saudi Arabia
Asma Aldossari
Orthopedic surgery Department, King Fahd University Hospital, Imam Abdulrahman Bin Faisal University, 31441 Dammam, P.O. Box 1982, Kingdom of Saudi Arabia
Tarek M. Hegazi
Diagnostic Radiology Department, King Fahd University Hospital, Imam Abdulrahman Bin Faisal University, 31441 Dammam, P.O. Box 1982, Kingdom of Saudi Arabia
Ammar K. Alomran
Orthopedic surgery Department, King Fahd University Hospital, Imam Abdulrahman Bin Faisal University, 31441 Dammam, P.O. Box 1982, Kingdom of Saudi Arabia
Awadia S. Awadalla
Pathology Department, King Fahd University Hospital, Imam Abdulrahman Bin Faisal University, 31441 Dammam, P.O. Box 1982, Kingdom of Saudi Arabia
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.
