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Table 4 Clinical phenotypic characterization of patients with ART

From: Association of four imprinting disorders and ART

 

ART (n = 7)

Sp (n = 110)

P value

a. BWS

 Macroglossia (%)

100

82.7

0.597

 Earlobe creases (%)

57.1

43.6

0.698

 Umbilical hernia (%)

57.1

44.5

0.700

 Hemihypertrophy (%)

28.6

34.5

1.000

 Exomphalos (%)

42.9

22.7

0.356

 Exophthalmos (%)

28.6

19.1

0.622

 Hepatomegaly (%)

42.9

16.4

0.108

 Nephromegaly (%)

14.3

16.4

1.000

 Ocular hypertelorism (%)

14.3

13.6

1.000

 Urinary malformation (%)

0

10.9

1.000

 Cryptorchism (%)

28.6

10.0

0.174

 Occlusal interference (%)

14.3

10.9

0.572

 Pancreatic islet hyperplasia (%)

0

8.2

1.000

 Adrenomegaly (%)

0

4.5

1.000

 Splenomegaly (%)

0

3.6

1.000

 

ART (n = 4)

Sp (n = 223)

P value

b. AS

 Mental retardation (%)

100

98.7

1.000

 Epilepsy (%)

100

65.9

0.304

 Dysphasia (%)

100

89.2

1.000

 Hyposomnia (%)

100

46.2

0.048

 Dyschromatosis (%)

75.0

73.5

1.000

 Prognathism (%)

50.0

50.7

1.000

 Convulsions (%)

50.0

35.0

0.615

 Microcephaly (%)

50.0

25.6

0.204

 Ictal laughter (%)

25.0

57.0

0.320

 Ataxic gait (%)

0

60.1

0.027

 Heart malformation (%)

0

2.7

1.000

 

ART (n = 24)

Sp (n = 496)

P value

c. PWS

 Hypotonia (%)

100

86.9

0.059

 Dyschromatosis (%)

91.7

69.0

0.020

 Feeding difficulties (%)

91.7

79.9

0.194

 Almond-shaped eyes (%)

87.5

73.6

0.156

 Acromicria (%)

87.5

58.3

0.005

 Mental retardation (%)

79.2

86.1

0.365

 Short stature (%)

62.5

64.4

0.831

 Triangular mouth (%)

66.7

61.6

0.673

 Cryptorchism (%)

58.3

38.6

0.085

 Hypogonadism (%)

50.0

37.4

0.281

 Bulimia (%)

35.7

52.3

0.281

 Obesity (%)

14.3

49.4

0.012

 Diabetes (%)

8.3

12.7

0.755

 Gastrointestinal injury (%)

8.3

2.8

0.165

 Cardiac failure (%)

4.2

2.8

0.512

 

ART (n = 8)

Sp (n = 59)

P value

d. SRS

 Short stature (%)

100

94.9

1.000

 Failure to thrive (%)

100

94.9

1.000

 Triangular shaped face (%)

87.5

78.0

1.000

 Body asymmetry (%)

87.5

57.6

0.138

 Clinodactyly of the fifth fingers (%)

62.5

47.5

0.476

 Mental retardation (%)

62.5

32.2

0.124

 Sweating (%)

25.0

15.3

0.609

 Heart malformation (%)

25.0

3.4

0.036

 Hypoglycemia (%)

0

10.2

1.000

 Gastrointestinal injury (%)

0

6.8

1.000

 Difficulty in hearing (%)

0

3.4

1.000

 Ptosis (%)

0

5.1

1.000

 Renal hypoplasia (%)

0

1.7

1.000

 Tumorigenesis (%)

12.5

0

0.119

 Diabetes (%)

12.5

0

0.119

 Hypertension (%)

0

1.7

1.000

  1. The percentages of patients presenting each clinical phenotypic in four ART- and Sp-imprinting disorders: (a) BWS, (b) AS, (c) PWS, and (d) SRS. The frequencies of bulimia and obesity were calculated for PWS patients over 3 years old. The total numbers of ART-PWS and Sp-PWS patients over 3 years old were 14 and 415, respectively