|
1
|
(HPO:0000926)
|
Platyspondyly |
|
|
|
|
150 / 7739
|
|
2
|
(HPO:0000938)
|
Osteopenia |
|
|
|
|
138 / 7739
|
|
3
|
(HPO:0002645)
|
Wormian bones |
|
|
|
|
65 / 7739
|
|
4
|
(HPO:0002757)
|
Recurrent fractures |
|
|
|
|
47 / 7739
|
|
5
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
|
6
|
(HPO:0004586)
|
Biconcave vertebral bodies |
|
|
|
|
15 / 7739
|
|
7
|
(HPO:0005084)
|
Anterior radial head dislocation |
|
|
|
|
2 / 7739
|
|
8
|
(HPO:0006394)
|
Limited pronation/supination of forearm |
|
|
|
|
4 / 7739
|
|
9
|
(HPO:0008422)
|
Vertebral wedging |
|
|
|
|
7 / 7739
|
|
10
|
(OMIM)
|
Birth length normal |
|
|
|
|
15 / 7739
|
|
11
|
(OMIM)
|
Birth weight normal |
|
|
|
|
14 / 7739
|
|
12
|
(OMIM)
|
Normal sclerae |
|
|
|
|
4 / 7739
|
|
13
|
(OMIM)
|
Normal teeth |
|
|
|
|
15 / 7739
|
|
14
|
(OMIM)
|
Moderate to severe bone fragility |
|
|
|
|
2 / 7739
|
|
15
|
(OMIM)
|
Moderately deforming osteogenesis imperfecta |
|
|
|
|
2 / 7739
|
|
16
|
(OMIM)
|
Irregular, meshlike matrix lamellae in the histology of the iliac crest |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
Calcified interosseous membrane (forearms) |
|
|
|
|
1 / 7739
|
|
18
|
(OMIM)
|
Hyperplastic callus |
|
|
|
|
1 / 7739
|
|
19
|
(OMIM)
|
Metaphyseal bands adjacent to growth plate (distal femora, proximal tibiae, distal radii) |
|
|
|
|
1 / 7739
|
|
20
|
(OMIM)
|
Elevated serum alkaline phosphatase during hyperplastic callus formation |
|
|
|
|
1 / 7739
|
|
21
|
(OMIM)
|
Increased urinary collagen type I N-telopeptide excretion (NTx) during hyperplastic callus formation |
|
|
|
|
1 / 7739
|