Table 1.
Distribution of individual Beckwith-Wiedemann syndrome clinical features according to molecular subtype
| pUPD | IC1 | IC2 | Total | |
|---|---|---|---|---|
| Facial naevus flammeus |
21.1% (40/190) |
3.7% (7/190) |
75.3% (143/190) |
73.1% (190/260) |
| Diastasis recti |
33.3% (14/42) |
23.8% (10/42) |
42.9% (18/42) |
72.4% (42/58) |
| Organomegaly |
38.3% (51/133) |
16.5% (22/133) |
45.1% (60/133) |
72.3% (133/184) |
| Macroglossia |
22.5% (92/408) |
8.1% (33/408) |
69.4% (283/408) |
72.2% (408/565) |
| Polyhydramnios |
24.4% (19/78) |
3.8% (3/78) |
71.8% (56/78) |
71.6% (78/109) |
| Exomphalos |
6.9% (12/173) |
1.7% (3/173) |
91.3% (158/173) |
70.0% (173/247) |
| Prognathism |
22.0% (11/50) |
10.0% (5/50) |
68.0% (34/50) |
67.6% (50/74) |
| Ear creases/pits |
17.9% (47/263) |
6.8% (18/263) |
75.3% (198/263) |
66.8% (263/394) |
| Maxillary hypoplasia |
29.4% (20/68) |
11.8% (8/68) |
58.8% (40/68) |
65.4% (68/104) |
| Macrosomia |
29.7% (80/269) |
8.2% (22/269) |
62.1% (167/269) |
64.4% (269/418) |
| Neonatal hypoglycaemia |
28.9% (58/201) |
8.5% (17/201) |
62.7% (126/201) |
62.4% (201/322) |
| Umbilical hernia |
33.8% (47/139) |
10.8% (15/139) |
55.4% (77/139) |
59.9% (139/232) |
| Inguinal hernia |
18.2% (4/22) |
0.0% (0/22) |
81.8% (18/22) |
59.5% (22/37) |
| Congenital heart defects |
18.0% (9/50) |
10.0% (5/50) |
72.0% (36/50) |
55.6% (50/90) |
| Embryonal tumours |
43.8% (7/16) |
37.5% (6/16) |
18.8% (3/16) |
48.5% (16/33) |
| Hemihypertrophy | 57.3% (98/171) | 7.6% (13/171) | 35.1% (60/171) | 38.2% (171/448) |
IC1, imprinting centre 1; IC2, imprinting centre 2; pUPD, paternal uniparental disomy.