Table 2 Clinical Features of FOP non-survivors
Patient number | 1 | 2 | 8 | 21 | 34 | 39 | 41 | 45 | 98 |
|---|---|---|---|---|---|---|---|---|---|
Gender | F | M | F | M | F | M | F | F | F |
Age of onset | 4 | 3 | 2 | 0.1 | 6 | 0.7 | 2.5 | 1 | 6 |
Age of diagnose (years) | >18 | >18 | ≤18 | ≤18 | >18 | >18 | ≤18 | ≤18 | ≤18 |
Age of death (years) | >18 | >18 | >18 | ≤18 | >18 | >18 | >18 | ≤18 | >18 |
Course of disease (years) | 1 | 6 | 6 | 4 | 6 | 3 | 6 | 6 | 7 |
ACVR1 mutation | |||||||||
-Coden change | R206H | R206H | R206H | R206H | R206H | R206H | R206H | R206H | R206H |
-Nucleotide change (cDNA position) | c.617G > A | c.617G > A | c.617G > A | c.617G > A | c.617G > A | c.617G > A | c.617G > A | c.617G > A | c.1067G > A |
Typical FOP features | |||||||||
-Congenital malformations of Great toes | Y | Y | Y | Y | Y | Y | Y | Y | Y |
-progressive HO | Y | Y | Y | Y | Y | Y | Y | Y | Y |
-onset site | Scalp | Neck | Neck | Shoulder | Back | Scalp | Scalp | Scalp | elbow |
Classification | classic FOP | classic FOP | classic FOP | classic FOP | classic FOP | classic FOP | classic FOP | classic FOP | classic FOP |
Biochemical tests | |||||||||
-OC (u/L) | 38.1 | 40.7 | 12.7 | 64.7 | 6.58 | 41.5 | 43.9 | 64.8 | 38.0 |
-Ca (mmol/L) | 2.3 | 2.35 | 2.08 | 2.4 | 2.24 | 2.3 | 2.62 | 2.24 | 2.21 |
-P (mmol/L) | 1.16 | 1.42 | 1.21 | 1.45 | 0.72 | 1.2 | 1.34 | 1.65 | 1.02 |
-PTH (pg/ml) | 30.9 | 95.4 | 90.9 | 29 | 53.3 | 86.5 | 37.8 | 50.9 | 78.7 |