A case of neonatal osteofibrous dysplasia with novel CDK12 and DDR2 mutations.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 36875508.
- Also identified by DOI 10.1016/j.bonr.2023.101666 and PMC identifier 9982453.
- Licence recorded as CC BY-NC-ND.
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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.