| 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) |