1
|
(HPO:0000592)
|
Blue sclerae |
|
|
|
|
85 / 7739
|
2
|
(HPO:0000703)
|
Dentinogenesis imperfecta |
|
|
|
|
18 / 7739
|
3
|
(HPO:0000938)
|
Osteopenia |
|
|
|
|
138 / 7739
|
4
|
(HPO:0000951)
|
Abnormality of the skin |
|
|
|
|
147 / 7739
|
5
|
(HPO:0001388)
|
Joint laxity |
|
|
|
|
117 / 7739
|
6
|
(HPO:0002650)
|
Scoliosis |
|
|
|
|
705 / 7739
|
7
|
(HPO:0002659)
|
Increased susceptibility to fractures |
|
|
|
|
110 / 7739
|
8
|
(HPO:0002812)
|
Coxa vara |
5/8 [HPO:probinson]
|
|
|
|
58 / 7739
|
9
|
(HPO:0002953)
|
Vertebral compression fractures |
|
|
|
|
14 / 7739
|
10
|
(HPO:0003155)
|
Elevated alkaline phosphatase |
|
|
|
|
52 / 7739
|
11
|
(HPO:0003179)
|
Protrusio acetabuli |
|
|
|
|
37 / 7739
|
12
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
13
|
(HPO:0004586)
|
Biconcave vertebral bodies |
|
|
|
|
15 / 7739
|
14
|
(HPO:0008422)
|
Vertebral wedging |
|
|
|
|
7 / 7739
|
15
|
(OMIM)
|
Birth length normal |
|
|
|
|
15 / 7739
|
16
|
(OMIM)
|
Birth weight normal |
|
|
|
|
14 / 7739
|
17
|
(OMIM)
|
White to faintly blue sclera |
|
|
|
|
1 / 7739
|
18
|
(OMIM)
|
Moderate to severe bone fragility |
|
|
|
|
2 / 7739
|
19
|
(OMIM)
|
Moderately deforming osteogenesis imperfecta |
|
|
|
|
2 / 7739
|
20
|
(HPO:0004349)
|
Reduced bone mineral density |
|
|
|
|
165 / 7739
|
21
|
(OMIM)
|
No wormian bones |
|
|
|
|
1 / 7739
|
22
|
(OMIM)
|
Unilateral/bilateral coxa vara (5/8 patients) |
|
|
|
|
1 / 7739
|
23
|
(OMIM)
|
'Fish-scale' pattern of lamellae |
|
|
|
|
1 / 7739
|
24
|
(OMIM)
|
Increased osteoid volume |
|
|
|
|
1 / 7739
|
25
|
(OMIM)
|
Hyperosteoidosis |
|
|
|
|
1 / 7739
|
26
|
(OMIM)
|
Bulbous metaphyses |
|
|
|
|
2 / 7739
|
27
|
(OMIM)
|
Bowed extremities |
|
|
|
|
1 / 7739
|
28
|
(OMIM)
|
Long bone deformities |
|
|
|
|
2 / 7739
|
29
|
(OMIM)
|
Normal skin |
|
|
|
|
5 / 7739
|
30
|
(OMIM)
|
No easy bruisability |
|
|
|
|
1 / 7739
|
31
|
(OMIM)
|
Elevated serum alkaline phosphatase |
|
|
|
|
3 / 7739
|
32
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
33
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
34
|
(HPO:0000248)
|
Brachycephaly |
|
|
|
|
222 / 7739
|
35
|
(HPO:0000325)
|
Triangular face |
|
|
|
|
91 / 7739
|
36
|
(HPO:0002751)
|
Kyphoscoliosis |
|
|
|
|
131 / 7739
|