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Table 1 Distribution of individual Beckwith-Wiedemann syndrome clinical features according to molecular subtype

From: Methylation analysis and diagnostics of Beckwith-Wiedemann syndrome in 1,000 subjects

  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)
  1. IC1, imprinting centre 1; IC2, imprinting centre 2; pUPD, paternal uniparental disomy.