Table 2 Clinical characteristics of patients with Beckwith–Wiedemann syndrome (BWS) with a methylation defect involving various loci and patients with BWS with a methylation defect restricted to KCNQ1OT1.
| Patients with BWS with involvement of various imprinted genes (n = 10) | Patients with BWS with involvement of KCNQ1OT1 (n = 30) | p* Value | |
|---|---|---|---|
| Sex | 6F/4M | 15F/15M | |
| Delivery (weeks): median (range) | 37 (29–38) | 36 (21–41) | |
| Macrosomia† | 71% | 43.5% | NS |
| Macroglossia | 100% | 100% | NS |
| Organomegaly | 22% | 46% | NS |
| Abdominal wall | 70% | 73% | NS |
| Exomphalos (n) | 4/7 | 14/22 | NS |
| Hemihyperplasia | 20% | 20% | NS |
| Ear abnormalities | 60% | 56% | NS |
| Hypoglycaemia | 60% | 46% | NS |
NS, non‐significant.
*χ2 test
†Birth weight or birth height ⩾2 SD according to Usher and McLean charts. Twin patients (n = 6) were not included.