Table 1 Growth parameters at birth and at diagnosis for all patients.
| Clinical features shown by BWS patients | Clinical features shown by WHS patient (Pt3) | ||||
|---|---|---|---|---|---|
| A | Patient 1 | Deceased brother of patient 1 | Patient 2 | B | Patient 3 |
| Measures at birth | Measures at birth | ||||
| Length | 53 cm (90°p) | 58 cm (>97°p) | 47.5 cm (<50°p) | Length | Probably low for gestational age |
| Weight | 4250 g (>97°p) | 5100 g (>97°p) | 4360 g (>97°p) | Weight | Probably low for gestational age |
| CC | 34.5 cm (3–10°p)) | NK | 37 cm (<3°p) | CC | Probably low for gestational age |
| Apgar index | 3, 5 | 7 | 8, 9 | Apgar index | Probably low (asphyxia/fetal distress) |
| Age at diagnosis | 2 months | At birth | 6 years | Age at diagnosis | 15 years |
| Measures at diagnosis | Measures at diagnosis | ||||
| Length | 56 cm (50°p) | 58 cm (>97°p) | 116 cm (75°p) | Length | 160 cm (10°p) |
| Weight | 4870 g (75°p) | 5100 g (>97°p) | 25.9 kg (∼97°p) | Weight | 39.5 kg (<3°p) |
| CC | 36 (3°p) | NK | 52 cm (75°p) | CC | 51 cm (<3°p) |
| Major BWS features | WHS clinical features | ||||
| Macrosomy | + | + | − | Typical craniofacial features | + |
| Macroglossia | + | + | + | Prenatal onset growth deficiency | NK, probably low for gestational age |
| Omphalocele | − | + | − | Postnatal growth retardation, | + |
| including microcephaly | |||||
| Embryonal tumour | − | Nephroblastoma | − | Hypotonia | + |
| Hemihypertrophy | − | − | + | Developmental delay and MR | Severe with absent language |
| Renal abnormalities | Hydronephrosis at birth, | − | − | Seizures (50–100%) | Generalised tonic‐clonic seizures |
| polycystic kidney | |||||
| Minor BWS features | Skeletal anomalies (60–70%) | Thoracolumbar scoliosis | |||
| Polyhydramnios | − | − | + | Congenital heart defects (30–50%) | − |
| Haemangioma | − | − | + | Cleft lip and cleft palate (30–50%) | − |
| Diastasis recti | + | + | + | Colobomata (30–50%) | − |
| Developmental delay | Borderline/mild | / | − | Hypospadias (30–50%) | − |
| Learning disabilities | − | / | + | ||
| Additional features | Urinary tract malformations (25%) | − | |||
| Hypotonia and | + | + | + | Hearing loss (>40%) | − |
| hyporeactivity | |||||
| Seizures, brain oedema, | − | + | − | Structural brain abnormalities (33%) | Hypoplasia of corpus |
| adrenal haemorrhage, | callosum, absence of forceps | ||||
| pneumothorax | major and gyrus cinguli | ||||
| Cryptorchidism | Monolateral | Bilateral | / | Other features reported in WHS | Umbilical hernia, right |
| Scoliosis | − | / | + | preauricular tag | |
In section A, major and minor BWS features, as well as additional findings shown by BWS patients are displayed to make the comparison easier. In section B, all WHS features are compared to those shown by patient 3. Percentages are displayed only for non‐mandatory findings (NK, not known). CC, cranial circumference; °p, percentile. MR, mental retardation.