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Table 3 Sample characteristics and clinical features of CHARGE syndrome reported in the eligible studies

From: Phenotypic characteristics and variability in CHARGE syndrome: a PRISMA compliant systematic review and meta-analysis

 

Sample Size (Male)

Mean Age (Range)

CHD7 positive

Coloboma

Choanal Atresia

Anosmia

Facial Palsy

Feeding and Swallowing Difficulties

External Ear Anomaly

Middle Ear Anomaly

Abadie et al. [15]

64 (29)

10.7 (.75-30)

80% (51/64)

75% (46/61)

37% (22/59)

-

46% (22/48)

-

-

-

Asher et al. [41]

16 (-)

-

-

-

100% (16/16)

-

-

-

-

-

Bernstein and Denno [42]

29 (-)

- (3-21)

-

-

-

-

-

-

-

-

Blake and Brown [43]

39 (22)

6 (1.5-20)

-

85% (33/39)

64% (25/39)

-

56% (22/39)

85% (33/39)

87% (34/39)

62% (23/37)

Blake et al. [44]

50 (29)

-

-

91% (43/47)

60% (28/47)

-

45% (21/47)

88% (44/50)

100% (50/50)

66% (33/50)

Blake et al. [19]

30 (14)

17.6 (13-30)

-

90% (27/30)

63% (19/30)

-

-

-

-

-

Cheng et al. [45]

12 (10)

11.9 (.25-21)

100% (12/12)

67% (6/9)

0% (0/10)

-

30% (3/10)

70% (7/10)

83% (10/12)

0% (0/4)

Dammeyer [46]

17 (6)

9 (3-15)

-

-

-

-

-

-

-

-

Davenport et al. [47]

9 (6)

12.2 (1.5-27)

-

89% (8/9)

29% (2/7)

33% (1/3)

29% (2/7)

60% (3/5)

78% (7/9)

50% (1/2)

Deuce et al. [48]

44 (-)

7.9 (1-15)

64% (18/28)

95% (40/42)

55% (23/42)

100% (20/20)

52% (22/42)

84% (37/44)

25% (11/44)

-

Deuce [49]

52 (-)

-

-

-

-

-

-

-

-

-

Dobbelsteyn et al. [50]

39 (24)

6.8 (0.5-17)

-

86% (32/37)

41% (16/39)

-

59% (23/39)

90% (35/39)

-

-

Hale et al. [8]

24 (15)

-

67% (16/24)

78% (18/23)

42% (10/24)

-

-

83% (19/23)

96% (23/24)

-

Hartshorne et al. [51]

87 (52)

11.1 (6-18)

50% (16/32)

84% (73/87)

60% (52/87)

40% (35/87)

48% (42/87)

70% (61/87)

-

-

Hartshorne et al. [18]

53 (33)

- (13-39)

-

77% (41/53)

64% (34/53)

-

-

-

-

-

Hartshorne and Cypher [52]

100 (43)

7* (1-30)

-

86% (86/100)

54% (54/100)

-

48% (48/100)

74% (74/100)

-

-

Hartshorne et al. [53]

160 (85)

10.9 (3-33)

-

85% (136/160)

64% (102/160)

-

48% (77/160)

79% (126/160)

-

-

Harvey et al. [54]

17 (8)

- (0.5-15)

-

88% (15/17)

82% (14/17)

41% (7/17)

100% (9/9)

94% (16/17)

-

100% (9/9)

Hittner et al. [55]

10 (5)

-

-

100% (10/10)

-

-

60% (6/10)

-

100% (10/10)

-

Hsu et al. [56]

20 (6)

9 (0.6-18)

95% (19/20)

95% (19/20)

60% (12/20)

-

-

-

-

-

Husu et al. [57]

18 (6)

8.3 (1-15)

100% (18/18)

94% (16/17)

41% (7/17)

29% (2/7)

40% (6/15)

67% (12/15)

88% (15/17)

-

Issekutz et al. [1]

77 (40)

-

-

77% (59/77)

64% (49/77)

-

49% (38/77)

70% (54/77)

75% (12/16)

81% (13/16)

Johansson et al. [58]

31 (15)

8.9 (0.1-31)

-

-

-

-

39% (12/31)

-

-

23% (7/31)

Jongmans et al. [10]

46 (22)

11.2 (0–40)

100% (46/46)

72% (33/46)

37% (17/46)

-

22% (10/46)

-

-

-

Lasserre et al. [59]

8 (7)

9.8 (7-13)

-

63% (5/8)

-

-

-

-

-

-

Legendre et al. [11]

119 (57)

11 (<1-53)

79% (93/118)

72% (82/117)

43% (49/114)

82% (23/28)

70% (54/77)

84% (65/77)

87% (100/115)

39% (45/115)

Oley et al. [60]

20 (14)

- (0-14)

-

85% (17/20)

65% (13/20)

-

60% (12/20)

25% (5/20)

80% (16/20)

-

Raqbi et al. [61]

21 (11)

8.6 (5-12)

-

90% (19/21)

33% (7/21)

22% (2/9)

76% (16/21)

81% (17/21)

-

-

Reda and Hartshorne [62]

25 (11)

- (1-4.5)

-

88% (22/25)

60% (15/25)

20% (5/25)

36% (9/25)

88% (22/25)

84% (21/25)

-

Roger et al. [63]

45 (23)

-

-

69% (31/45)

60% (27/45)

-

27% (12/45)

70% (31/44)

84% (36/43)

-

Salem-Hartshorne and Jacob [64]

100 (50)

-

-

83% (83/100)

65% (65/100)

-

-

-

-

-

Shiohama et al. [65]

10 (7)

14.7 (-)

-

70% (7/10)

60% (6/10)

60% (6/10)

-

-

-

-

Shoji et al. [66]

25 (13)

9.7 (1-25)

81% (17/21)

56% (14/25)

12 (3/25)

24% (6/25)

24% (6/25)

-

52% (13/25)

-

Smith et al. [67]

13 (8)

9 (3-24)

-

85% (11/13)

62% (8/13)

-

55% (6/11)

83% (10/12)

100% (12/12)

92% (12/13)

Sohn et al. [68]

18 (8)

4.7 (0-20)

100% (18/18)

72% (13/18)

22% (4/18)

50% (2/4)

78% (14/18)

72% (13/18)

100% (18/18)

54% (7/13)

Souriau et al. [69]

71 (-)

8 (<1-30)

-

-

-

55% (17/31)

-

-

-

-

Strömland et al. [70]

31 (15)

8.1 (0.1-31)

-

90% (28/31)

35% (11/31)

-

32% (10/31)

81% (25/31)

90% (28/31)

23% (7/31)

Tellier et al. [71]

47 (17)

-

-

79% (37/47)

57% (27/47)

-

36% (17/47)

96% (45/47)

100% (47/47)

27% (3/11)

Thelin and Fussner [72]

28 (11)

7* (3-27)

-

-

75% (21/28)

11% (3/28)

-

86% (24/28)

-

-

Wessels et al. [73]

13 (7)

5.5 (<1-19)

62% (8/13)

62% (8/13)

54% (7/13)

-

-

-

-

-

Wincent et al. [74]

15 (8)

-

60% (9/15)

80% (12/15)

27% (4/15)

-

21% (3/14)

-

87% (13/15)

-

Wulffaert et al. [17]

22 (16)

11 (2-22)

95% (21/22)

-

-

-

-

-

-

-

 

Inner Ear Anomaly

Heart Defect

Growth Deficiency

Genital Hypoplasia

Cleft lip or Palate

Tracheoesophageal Fistula

Brain Anomaly

Characteristic Face

Hearing Impairment

Abadie et al. [15]

95% (61/64)

62% (38/61)

46% (25/55)

51% (24/47)

17% (10/58)

29% (14/48)

50% (26/52)

-

81% (46/57)

Asher et al. [41]

-

-

-

-

-

-

25% (3/12)

-

-

Bernstein and Denno [42]

-

-

-

-

-

-

-

-

100% (29/29)

Blake and Brown [43]

70% (26/37)

79% (31/39)

64% (25/39)

51% (20/39)

18% (7/39)

-

-

-

92% (34/37)

Blake et al. [44]

38% (19/50)

84% (42/50)

91% (39/43)

93% (25/27)

16% (8/50)

11% (5/44)

38% (18/47)

-

74% (37/50)

Blake et al. [19]

-

77% (23/30)

70% (21/30)

73% (22/30)

57% (17/30)

27% (8/30)

-

-

-

Cheng et al. [45]

100% (5/5)

83% (10/12)

63% (5/8)

67% (8/12)

10% (1/10)

-

71% (5/7)

-

100% (12/12)

Dammeyer [46]

-

-

-

-

-

-

-

-

89% (17/19)

Davenport et al. [47]

-

56% (5/9)

67% (6/9)

100% (9/9)

25% (2/8)

33% (1/3)

40% (2/5)

-

100% (8/8)

Deuce et al. [48]

82% (27/33)

30% (13/44)

18% (8/44)

9% (6/44)

7% (3/44)

-

-

5% (2/44)

93% (41/44)

Deuce [49]

-

-

-

-

-

-

-

-

94% (49/52)

Dobbelsteyn et al. [50]

-

79% (31/39)

69% (25/36)

70% (21/30)

26% (10/39)

8% (3/39)

-

59% (17/29)

-

Hale et al. [8]

100% (17/17)

83% (20/24)

70% (16/23)

64% (14/22)

29% (7/24)

17% (4/24)

47 (9/19)

-

96% (23/24)

Hartshorne et al. [51]

-

78% (68/87)

82% (71/87)

62% (54/87)

29% (25/87)

22% (19/87)

-

-

85% (74/87)

Hartshorne et al. [18]

-

74% (39/53)

85% (45/53)

-

42% (22/53)

9% (5/53)

-

75% (40/53)

95% (50.5/53)

Hartshorne and Cypher [52]

-

75% (75/100)

62% (62/100)

39% (39/100)

27% (27/100)

14% (14/100)

-

-

91% (86/94)

Hartshorne et al. [53]

-

80% (128/160)

74% (118/160)

56% (90/160)

29% (46/160)

22% (35/160)

-

-

-

Harvey et al. [54]

-

82% (14/17)

100% (10/10)

56% (5/9)

35% (6/17)

29% (5/17)

24 (4/17)

71% (12/17)

47% (8/17)

Hittner et al. [55]

-

100% (10/10)

-

-

-

-

100% (3/3)

-

100% (10/10)

Hsu et al. [56]

95% (19/20)

-

-

-

-

-

60% (12/20)

-

-

Husu et al. [57]

90% (9/10)

78% (14/18)

60% (9/15)

28% (5/18)

50% (6/18)

19% (3/16)

-

94% (17/18)

93% (14/15)

Issekutz et al. [1]

90% (9/10)

84% (65/77)

58% (45/77)

38% (29/77)

18% (14/77)

19% (15/77)

54% (36/67)

55% (42/77)

58% (15/26)

Johansson et al. [58]

68% (21/31)

-

-

-

-

-

-

-

-

Jongmans et al. [10]

77% (20/26)

65% (30/46)

68% (21/31)

39% (18/46)

37% (17/46)

17% (8/46)

9% (4/46)

-

90% (36/40)

Lasserre et al. [59]

100% (8/8)

-

-

-

-

-

-

-

100% (8/8)

Legendre et al. [11]

95% (107/113)

65% (76/117)

34% (23/67)

53% (54/101)

18% (21/117)

20% (21/107)

49% (50/102)

81% (92/113)

93% (105/113)

Oley et al. [60]

-

80% (16/20)

85% (17/20)

70% (14/20)

-

-

-

-

95% (19/20)

Raqbi et al. [61]

-

76% (16/21)

67% (14/21)

48% (10/21)

14% (3/21)

-

-

-

100% (21/21)

Reda and Hartshorne [62]

-

88% (22/25)

60% (15/25)

48% (12/25)

12% (3/25)

28% (7/25)

-

-

84% (21/25)

Roger et al. [63]

-

78% (35/45)

78% (31/40)

-

13% (6/45)

11% (4/45)

18% (5/28)

-

86% (37/43)

Salem-Hartshorne and Jacob [64]

-

81% (81/100)

80% (80/100)

61% (61/100)

32% (32/100)

25% (25/100)

-

-

82% (82/100)

Shiohama et al. [65]

50% (5/10)

80% (8/10)

90% (9/10)

60% (6/10)

40% (4/10)

20% (2/10)

30% (3/10)

100% (10/10)

-

Shoji et al. [66]

48% (12/25)

76% (19/25)

72% (18/25)

40% (10/25)

44% (11/25)

24 (6/25)

8% (2/25)

-

96% (24/25)

Smith et al. [67]

92% (12/13)

69% (9/13)

62% (8/13)

67% (8/12)

23% (3/13)

17 (2/12)

-

-

-

Sohn et al. [68]

72% (13/18)

72% (13/18)

56% (10/18)

83% (15/18)

-

0% (0/18)

28% (5/18)

-

100% (18/18)

Souriau et al. [69]

-

-

-

-

-

-

-

-

100% (71/71)

Strömland et al. [70]

~ 63% (29/46)

52% (16/31)

48% (15/31)

39% (12/31)

19% (6/31)

16% (5/31)

87% (27/31)

-

74% (23/31)

Tellier et al. [71]

100% (12/12)

85% (40/47)

71% (5/7)

34% (16/47)

36% (17/47)

15% (7/47)

83% (39/47)

81% (38/47)

62% (23/37)

Thelin and Fussner [72]

-

75% (21/28)

57% (16/28)

-

32% (9/28)

-

-

-

96% (27/28)

Wessels et al. [73]

100% (1/1)

69% (9/13)

57% (4/7)

73% (8/11)

25% (3/12)

25% (3/12)

67% (6/9)

43% (3/7)

-

Wincent et al. [74]

83% (5/6)

80% (12/15)

79% (11/14)

57% (8/14)

27% (4/15)

-

-

-

64% (7/11)

Wulffaert et al. [17]

-

-

-

-

-

-

-

-

77% (17/22)