Table 1.
Beckwith–Wiedemann syndrome/11p overgrowth spectrum clinical features
Patient # | Hemihypertrophy | Macroglossia | Macrosomia | Ear findings | Umbilical hernia | Hepatomegaly | Tumour | Major features |
---|---|---|---|---|---|---|---|---|
Surgery | ||||||||
1 | + | + | + | + | − | + | − | 5 |
2 | + | − | + | + | + | + | − | 5 |
3 | + | − | + | − | − | − | − | 2 |
4 | + | + | + | + | + | + | − | 6 |
5 | + | − | − | − | − | − | − | 1 |
6 | + | + | + | + | − | + | − | 5 |
7 | − | − | + | − | − | + | − | 2 |
8 | + | + | + | − | − | − | − | 3 |
9 | + | − | + | − | − | − | − | 2 |
10 | + | + | + | − | − | + | + | 5 |
11 | + | − | + | + | + | + | + | 6 |
12 | + | − | − | − | − | − | − | 1 |
13 | + | − | + | + | + | + | − | 5 |
14 | − | − | − | − | + | − | − | 1 |
Octreotide | ||||||||
15 | + | + | + | + | − | + | − | 5 |
16 | + | + | + | + | + | + | − | 6 |
17 | + | + | + | − | + | + | − | 5 |
18 | + | + | + | + | + | + | + | 7 |
19 | + | + | + | − | + | + | − | 5 |
20 | + | + | + | − | + | + | + | 6 |
Diazoxide | ||||||||
21 | + | + | + | − | + | + | − | 5 |
22 | + | + | − | − | − | + | + | 4 |
23 | + | − | − | − | + | − | − | 2 |
24 | + | + | + | + | + | + | − | 6 |
25 | + | − | − | − | + | + | − | 3 |
26 | + | − | + | + | + | − | − | 4 |
27 | − | + | + | + | + | + | − | 5 |
28 | − | + | + | + | + | + | − | 5 |
24/28 | 16/28 | 22/28 | 13/28 | 17/28 | 20/28 | 5/28 |