Table 4.
Summary of clinical features in KBG patients in our study and the literature
| Our study |
Literature |
Total |
|||||||
|---|---|---|---|---|---|---|---|---|---|
| total | mutation | deletion | total | mutation | deletion | total | mutation | deletion | |
| Cases | 12 (100) | 9 (75.0) | 3 (25.0) | 183 (100) | 130 (71.0) | 53 (29.0) | 195 (100) | 139 (71.3) | 56 (28.7) |
| Gender | |||||||||
| Male | 8/12 (66.7) | 6/9 (66.7) | 2/3 (66.7) | 101/166 (61.0) | 72/121 (59.5) | 29/45 (64.4) | 109/178 (61.2) | 78/130 (60.0) | 31/48 (65.0) |
| Female | 4/12 (33.3) | 3/9 (33.3) | 1/3 (33.3) | 65/166 (39.0) | 49/121 (40.5) | 16/45 (35.6) | 69/178 (38.8) | 52/128 (40.0) | 17/48 (35.0) |
| Unknown | − | − | − | 17/183 (9.3) | 9/130 (6.9) | 8/53 (15.1) | 17/195 (8.7) | 9/139 (6.5) | 8/56 (14.3) |
| Short stature | 9/12 (75.0) | 8/9 (88.9) | 1/3 (33.3) | 102/177 (57.6) | 79/127 (62.2) | 23/50 (46.0) | 111/189 (58.7) | 87/136 (64.0) | 24/53 (45,3) |
| Craniofacial dysmorphism | 12/12 (100) | 9/9 (100) | 3/3 (100) | 168/170 (98.8) | 116/117 (99.1) | 52/53 (98.1) | 180/182 (98.9) | 125/126 (99.2) | 55/56 (98.2) |
| Typical facial gestalt | 12/12 (100) | 9/9 (100) | 3/3 (100) | 156/181 (86.2) | 105/128 (82.0) | 51/53 (96.2) | 168/193 (87.0) | 114/137 (83.2) | 54/56 (96.4) |
| Long protuberant philtrum | 12/12 (100) | 9/9 (100) | 3/3 (100) | 92/149 (61.7) | 69/108 (63.9) | 23/41 (56.1) | 104/161 (64.6) | 78/117 (66.7) | 26/44 (59.1) |
| Nose anomalies | 12/12 (100) | 9/9 (100) | 3/3 (100) | 134/165 (81.2) | 97/120 (80.8) | 37/45 (82.2) | 146/177 (82.5) | 106/129 (82.2) | 40/48 (83.3) |
| Oral findings | 12/12 (100) | 9/9 (100) | 3/3 (100) | 108/154 (70.1) | 75/109 (68.8) | 33/45 (73.3) | 120/166 (72.3) | 84/118 (71.2) | 36/48 (75.0) |
| Large and prominent ears | 12/12 (100) | 9/9 (100) | 3/3 (100) | 92/127 (72.4) | 74/99 (74.7) | 18/28 (64.3) | 104/139 (74.8) | 83/108 (76.9) | 21/31 (67.7) |
| Macrodontia | 12/12 (100) | 9/9 (100) | 3/3 (100) | 121/143 (84.6) | 95/108 (88.0) | 26/35 (74.3) | 133/154 (86.3) | 104/117 (88.9) | 29/37 (78.3) |
| Skeletal anomalies | 12/12 (100) | 9/9 (100) | 3/3 (100) | 79/105 (75.2) | 61/77 (79.2) | 18/28 (64.3) | 91/117 (77.8) | 70/86 (81.4) | 21/31 (67.7) |
| Delayed bone age | 10/12 (83.3) | 7/9 (77.8) | 3/3 (100) | 43/86 (50.0) | 34/63 (54.0) | 9/23 (39.1) | 54/98 (55.1) | 42/72 (58.3) | 12/26 (46.2) |
| Costovertebral anomalies | 11/12 (91.6) | 8/9 (88.8) | 3/3 (100) | 22/105 (21.0) | 21/79 (26.6) | 1/26 (3.8) | 33/117 (28.2) | 28/88 (31.8) | 4/29 (13.7) |
| Spine anomalies | 8/12 (66.7) | 7/9 (77.8) | 1/3 (33.3) | 20/86 (23.3) | 13/60 (21.7) | 7/26 (26.9) | 28/98 (28.6) | 20/69 (29.0) | 8/29 (27.6) |
| Joint stiffness | 11/12 (91.6) | 8/9 (88.8) | 3/3 (100) | 6/27 (22.2) | 3/16 (18.8) | 3/11 (27.3) | 17/39 (43.5) | 11/25 (44.0) | 6/14 (42.9) |
| Hand anomalies | 12/12 (100) | 9/9 (100) | 3/3 (100) | 126/166 (75.9) | 93/119 (78.2) | 33/47 (70.2) | 138/178 (77.5) | 102/128 (79.7) | 36/50 (72.0) |
| Neurological involvement | 12/12 (100) | 9/9 (100) | 3/3 (100) | 175/180 (97.2) | 124/128 (96.9) | 51/52 (98.1) | 187/192 (97.4) | 133/137 (97.1) | 54/55 (98.2) |
| Developmental delay | 10/12 (83.3) | 7/9 (77.8) | 3/3 (100) | 140/178 (78.7) | 96/129 (74.4) | 44/49 (89.8) | 150/190 (78.9) | 103/138 (74.6) | 47/52 (90.4) |
| Intellectual disability | 10/12 (83.3) | 7/9 (77.8) | 3/3 (100) | 157/173 (90.7) | 113/124 (91.1) | 44/49 (89.8) | 167/185 (90.3) | 120/133 (90.2) | 47/52 (90.4) |
| Behavioral features | 12/12 (100) | 9/9 (100) | 3/3 (100) | 104/168 (61.9) | 81/119 (68.1) | 23/49 (46.9) | 116/180 (64.4) | 90/128 (70.3) | 26/52 (50.0) |
| Epilepsy/convulsion | 3/7 (42.8) | 3/4 (75.0) | 0/3 (0) | 52/173 (30.1) | 39/124 (31.5) | 13/49 (26.5) | 55/180 (30.5) | 42/128 (32.8) | 13/52 (25.0) |
| EEG anomalies | 3/7 (42.8) | 3/4 (75.0) | 0/3 (0) | 61/122 (50.0) | 45/81 (55.5) | 15/40 (37.5) | 64/128 (50.0) | 48/85 (56.5) | 15/43 (34.9) |
| Brain imaging anomalies | 8/10 (80.0) | 6/8 (75.0) | 2/2 (100) | 36/84 (42.9) | 19/56 (33.9) | 17/28 (60.7) | 44/94 (46.8) | 25/64 (39.0) | 19/30 (63.3) |
Values represent number of cases with percentages in parentheses.