Table 2. Phenotypic manifestations of DS patients
Phenotypic Features |
Pediatric(n=67) |
Adult (n=28) |
Total (n=95) |
Percentage (%) |
Epicanthic fold |
65 |
24 |
89 |
93.7 |
Brachicephaly |
59 |
27 |
86 |
90.6 |
Nasal bridge flat |
60 |
20 |
80 |
84.2 |
Upward slanting |
56 |
23 |
79 |
83.2 |
Wide gap between 1,2 great toe |
53 |
24 |
77 |
81.1 |
Clinodactily |
48 |
26 |
74 |
77.9 |
Small nose |
48 |
23 |
71 |
74.7 |
Short broad neck |
46 |
23 |
69 |
72.6 |
Increased nuchal skin fold |
42 |
16 |
58 |
61.1 |
Single palmar crease |
39 |
19 |
58 |
61.1 |
Fissured tongue |
35 |
15 |
50 |
52.6 |
Small ear |
31 |
14 |
45 |
47.4 |
Protruded abdomen |
30 |
15 |
45 |
47.3 |
Small mouth |
31 |
13 |
44 |
46.3 |
Protruding macroglossia |
29 |
6 |
35 |
36.8 |
Divarification of recti |
24 |
11 |
35 |
36.8 |
Flat nipple |
30 |
4 |
34 |
35.8 |
Single flexion crease of 5th finger |
12 |
5 |
17 |
17.9 |
Refractive errors |
4 |
7 |
11 |
11.6 |
Dysplastic ear |
5 |
2 |
7 |
7.4 |
Nystagmus |
5 |
2 |
7 |
7.4 |
Strabismus |
3 |
2 |
5 |
5.3 |
Umbilical hernia |
4 |
0 |
4 |
4.2 |
Polydactily |
1 |
0 |
1 |
1.1 |
Hyperlinearity |
1 |
0 |
1 |
1.1 |