PMC9507790_01
PMC9507790_02
PMC9507790_03
PMC9507790_04
This figure depicts the malformed great toes of patient 2's baby. Based on physical exam, there was high clinical suspicion for FOP, and subsequent testing for the ACVR1/ALK2 gene mutation confirmed a diagnosis of classic FOP.
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fig1
Her infant was diagnosed with classic FOP based on malformed great toes and confirmatory genetic testing (Figure 1).
This image is a 3D model of patient 3's computed tomographic chest scan performed at the time of her initial presentation to our care. The sternum is absent to allow for visualization of the path of the spine, which is depicted in purple. Heterotopic bone formation is portrayed in red.
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fig2
An 18 yo G2P0010 with classic FOP, severe restrictive pulmonary disease, chronic hypertension, and seizure disorder, presented to our care at 15 weeks gestation (Figure 2).
PMC9507790_05
PMC9507790_06
This figure depicts the feet of the baby born to patient 3 in this case series. The great toes appear normal. Genetic testing was performed immediately following delivery and revealed absence of the ACVR1/ALK2 gene mutation.
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fig3
Her infant had an uncomplicated course; his great toes were normal, and genetic testing ruled-out a diagnosis of FOP (Figure 3).