|
1
|
(HPO:0000272)
|
Malar flattening |
|
|
|
|
277 / 7739
|
|
2
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
|
3
|
(HPO:0000463)
|
Anteverted nares |
|
|
|
|
305 / 7739
|
|
4
|
(HPO:0000773)
|
Short ribs |
|
|
|
|
70 / 7739
|
|
5
|
(HPO:0005257)
|
Thoracic hypoplasia |
|
|
|
|
79 / 7739
|
|
6
|
(HPO:0000926)
|
Platyspondyly |
|
|
|
|
150 / 7739
|
|
7
|
(HPO:0000946)
|
Hypoplastic ilia |
|
|
|
|
21 / 7739
|
|
8
|
(HPO:0001538)
|
Protuberant abdomen |
|
|
|
|
36 / 7739
|
|
9
|
(HPO:0001591)
|
Bell-shaped thorax |
|
|
|
|
35 / 7739
|
|
10
|
(HPO:0003016)
|
Metaphyseal widening |
|
|
|
|
41 / 7739
|
|
11
|
(HPO:0003173)
|
Hypoplastic pubic bone |
|
|
|
|
8 / 7739
|
|
12
|
(HPO:0003175)
|
Hypoplastic ischia |
|
|
|
|
12 / 7739
|
|
13
|
(HPO:0003196)
|
Short nose |
|
|
|
|
264 / 7739
|
|
14
|
(HPO:0011800)
|
Midface retrusion |
|
|
|
|
221 / 7739
|
|
15
|
(OMIM)
|
Respiratory compromise due to small size of thorax |
|
|
|
|
1 / 7739
|
|
16
|
(OMIM)
|
Metaphyseal cupping of ribs |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
Relatively large skull |
|
|
|
|
1 / 7739
|
|
18
|
(OMIM)
|
Posteriorly narrowed vertebral bodies |
|
|
|
|
1 / 7739
|
|
19
|
(OMIM)
|
Delayed ossification of the cervical vertebral bodies (in some patients) |
|
|
|
|
1 / 7739
|
|
20
|
(OMIM)
|
Delayed ossification of ischia |
|
|
|
|
1 / 7739
|
|
21
|
(OMIM)
|
Delayed ossification of pubis |
|
|
|
|
1 / 7739
|
|
22
|
(OMIM)
|
Shortening of the long bones |
|
|
|
|
1 / 7739
|
|
23
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
24
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|