Clinical diagnosis | Suspected | Total | |
---|---|---|---|
n = 21 | (n = 10) | (n = 31) | |
Age, months, median (IQR) | 4 (2, 12) | 2.5 (1, 4.5) | 3 (2, 6.5) |
Gender | |||
Boy | 13 (61.9%) | 5 (50.0%) | 18 (58.1%) |
Girl | 8 (38.1%) | 5 (50.0%) | 13 (41.9%) |
BWS score, median (IQR) | 6 (4, 7) | 2 (2, 3) | 4 (3, 6) |
Cardinal features | |||
Macroglossia | 15 (71.4%) | 3 (30%) | 18 (58.1%) |
Lateralized overgrowth | 7 (33.3%) | 2 (20%) | 9 (29.0%) |
Exomphalos | 3 (14.3%) | 0 (0%) | 3 (9.7%) |
Hyperinsulinism | 1 (4.7%) | 0 (0%) | 1 (3.2%) |
Wilms tumor or nephroblastomatosisa | 0 (0%) | 0 (0%) | 0 (0%) |
Suggestive features | |||
Umbilical hernia and/or diastasis recti | 16 (65.0%) | 7 (70.0%) | 23 (74.2%) |
Ear creases and/or pits | 13 (61.9%) | 1 (10.0%) | 14 (45.2%) |
Nephromegaly and/or hepatomegaly | 10 (47.6%) | 2 (20.0%) | 12 (38.7%) |
Facial naevus simplex | 11 (52.3) | 0 (0%) | 11 (35.5%) |
Birthweight > 2 SDS above the mean | 8 (38.1%) | 2 (20.0%) | 10 (32.3%) |
Transient hypoglycaemia | 5 (23.8%) | 0 (0%) | 5 (16.1%) |
Polyhydramnios | 4 (19.0%) | 1 (10.0%) | 5 (16.1%) |
Typical BWS tumorsb | 0 (0%) | 0 (0%) | 0 (0%) |