Table 4.
Frequency of features in the present and in previously reported patients with KS
| Clinical features of the total number of KS cases | Mutation | |
|---|---|---|
| 9q34 deletions n (%) | EHMT1 mutationsn (%) | |
| Age range, years | 0–59 | 2.5–41 |
| High birth weight (>P90) | 6/66 (9) | 4/19 (21) |
| Microcephaly | 32/64 (50) | 4/21 (19) |
| Short stature | 18/56 (32) | 3/18 (17) |
| Overweight (BMI >25) | 18/64 (28) | 8/19 (42) |
| DD/ID | 91/91 (100) | 21/21 (100) |
| Heart defect | 27/66 (41) | 9/21 (43) |
| Genital anomaly (in males) | 17/53 (32) | 3/7 (43) |
| Renal anomaly | 7/59 (12) | 3/21 (14) |
| Recurrent infections | 9/35 (26) | 7/11 (64) |
| Hearing deficit | 12/52 (23) | 5/21 (24) |
| Gastro–esophageal reflux | 10/52 (19) | 3/21 (14) |
| Epilepsy | 21/59 (36) | 5/21 (24) |
| Behavioral/psychiatric problems | 32/59 (54) | 15/20 (75) |
| Anomalies on brain imaging | 25/43 (58) | 12/19 (63) |
| Tracheomalacia | 6/53 (11) | 1/21 (5) |
| Umbilical/inguinal hernia | 9/54 (17) | 2/21 (10) |
| Anal atresia | 2/67 (3) | 1/21 (5) |
| Musculoskeletal anomaly | 13/51 (25) | 4/21 (19) |
| Respiratory complications | 8/58 (14) | 1/21 (5) |
Study group included 91 patients with a 9q34.3 deletion (75 previous and 16 present) and 21 patients with an EHMT1 mutation (10 previous and 11 present). Two patients with an EHMT1 mutation are not included, because clinical data were not available.