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Table 2 Clinical Features of FOP non-survivors

From: Serum osteocalcin level is associated with the mortality in Chinese patients with Fibrodysplasia ossificans progressiva aged ≤18 years at diagnosis

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