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Table 1 Clinical Features of FOP patients

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

 

Classic FOP

FOP-plus

FOP variants

Patient number

60cases

46

70

7

42

54

ACVR1 mutation

 -Coden change

R206H (45 cases) or not complete (15 cases)

R206H

R206H

R258S

R206H

C306D

 -Nucleotide change (cDNA position)

c.617G > A (45 cases) or not complete(15 cases)

c.617G >  A

c.617G > A

c.744G > C

c.617G > A

c.1067G > A

Gender

M&F (26/34)

M

M

M

M

F

Age of onset (years)

0–13

18

5

6

2

2.5

Typical FOP features

 -Congenital malformations of Great toes

Y

Y

Y

N

Y

Y

 -progressive HO

Y

Y

Y

Y

Y

Y

 -onset site

Scalp(45%); Neck(20%); Back(15%); Shoulder(6.7%); Hip (5%); Others (8.3%)

Shoulder

Back

Knee

Scalp

Shoulder

Other typical FOP features

 -Thumb malformations

1.7%

Y

Y

Y

Y

N

 -Knee osteochondromas

51.7%

N

N

Y

N

N

 - Scoliosis

56.7%

N

N

Y

N

Y

 -Conductive hearing impairment

5%

N

N

N

N

N

Atypical FOP features features

N

Childhood glaucoma

Cryptorchidism

Minimal changes in great toes

No changes in great toes

Minimal changes in great toes