Table 1 General and clinical characteristics of children with Williams–Beuren syndrome (WBS).

From: Metabolomic profiles in serum uncover novel biomarkers in children with Williams–Beuren syndrome

Characteristics

Value*

Age, years

5.0 ± 2.6

Sex (female)

10 (40)

Birthweight, gram

2711.6 ± 469.1

Birth height, centimeter

48.3 ± 2.1

Gestational age at birth, week

38.9 ± 2.1

Height, centimeter

104.6 ± 20.4

Weight, kg

17.7 ± 9.7

BMI, kg/m2

15.3 ± 2.8

Weight status

 Normal

19 (76)

 Emaciated

4 (16)

 Obese

2 (8)

Short stature

6 (24)

Head circumference, centimeter

47.7 ± 2.3

Small head circumference, yes

7 (28)

Indirect inguinal hernia, yes

18 (72)

Congenital heart disease

23 (92)

 SVAS

20 (80)

 SVPS

11 (44)

 PPS

18 (72)

Presence of atrial septal defect

6 (24)

Presence of ventricular septal defect

0

PDA

1 (4)

Hypercalcemia

2 (8)

Hypercalciuria

6 (24)

HyperTSHemia

8 (32)

Hypothyroidism

2 (8)

Thyroid dysplasia according to B ultrasound test

3 (14.3)

Kidney problems

 

 Calcium deposition

2 (15.4)

 Structural malformation

2 (15.4)

Developmental delay

22 (88)

Developmental retardation extent

 

 71–80

4 (18.2)

 61–70

2 (9.1)

 51–60

6 (27.3)

 ≤ 50

10 (45.5)

  1. BMI, body mass index; SVAS, supravalvular aortic stenosis; SVPS, supravalvular pulmonary stenosis; PPS, Peripheral pulmonic stenosis; PDA, patent ductus arteriosus.
  2. Values presented in this table are means, standard deviations, numbers and percentages. Missing data in 6 (24%) individuals for head circumstance; 15 (60%) for gene deletion size; 3 (12%) for developmental delay and developmental retardation extent.