Publications by authors named "Christine Pamela Burren"
BMC Med Genomics
June 2024
Article Synopsis
- Fibrodysplasia Ossificans Progressiva (FOP) is a rare genetic disorder that often presents with congenital great toe abnormalities (CBHV), intermittent swelling, and abnormal bone growth.
- A case report describes a three-month-old girl with CBHV whose condition raised concerns for FOP, but comprehensive genetic testing revealed no typical markers for the disorder.
- The findings emphasize the importance of CBHV as an early diagnostic sign for FOP, while also suggesting that affected infants should be carefully evaluated and monitored before confirming a diagnosis.
