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Table 1 Clinical features of patients with clinical diagnosis of BWS (n = 21, BWS score ≥ 4) or suspected BWS (n = 10, BWS score ≥ 2 and < 4)

From: Clinical and molecular features of children with Beckwith-Wiedemann syndrome in China: a single-center retrospective cohort study

 

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%)

  1. a Multifocal and/or bilateral Wilms tumor or nephroblastomatosis
  2. b Neuroblastoma, rhabdomyosarcoma, unilateral Wilms tumour, hepatoblastoma, adrenocortical carcinoma or phaeochromocytoma
  3. BWS Beckwith-Wiedemann syndrome, IQR interquartile range