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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