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