Clinical manifestations in the Sotos syndrome children carrying a mutation at the NSD1 locus
| Deletion (n=6) | Point mutations (n=16) | |
|---|---|---|
| Parental age at birth | ||
| Paternal age (y) | 33.8 (22–43) | 35.2 (29–50) |
| Maternal age (y) | 32.6 (29–38) | 29.2 (21–36) |
| Sex | 4 M/2 F | 9 M/7 F |
| Age range (y) | 3–11 | 4–30 |
| Diagnosis | ||
| Typical Sotos | 2 | 14 |
| Sotos-like | 4 | 2 |
| Mental retardation | ||
| Severe (walking >3 y, no speech) | 4 | – |
| Moderate speech delay | 2 | 16 |
| Behavioural problems | 2 | – |
| Additional features | ||
| Congenital heart defect | 3 | 2 |
| Feeding difficulties | 3 | 3 |
| Macrosomia at birth | 2 | 8 |
| Neonatal hypoglycaemia | 2 | 2 |
| Seizures | 2 | 3 |
| Deep set nails | – | 7 |
| Hyperlaxity | – | 9 |
| Strabismus | – | 6 |
| Scoliosis | – | 6 |
| Corpus callosum agenesis | 2 | 4 |
| Cutis laxa | 1 | – |
| Renal malformation | 1 | – |
| Cleft palate | 1 | – |
| Cleft lip | 1 | – |