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

Clinical Epigenetics

Table 5 Published clinical diagnostic criteria for Beckwith-Wiedemann syndrome

	Elliott *et al.*[17]	DeBaun and Tucker[16]	Weksberg *et al.*[19]	Zarate *et al.*[20]	Gaston *et al.*[18]
Major features	Abdominal wall defect	Abdominal wall defect	Abdominal wall defect	Abdominal wall defect	Abdominal wall defect
	Macroglossia	Ear creases/pits	Ear creases/pits	Macroglossia	Macroglossia
	Macrosomia	Hypoglycaemia	Embryonal tumours	Macrosomia	Macrosomia
		Macroglossia	Embryonal tumours		Organomegaly
		Macrosomia	Hemihypertrophy
			Macroglossia
			Macrosomia
Minor features	Ear creases/pits	Nil	Hypoglycaemia	Cardiomegaly	Ear creases/pits
	Facial naevus flammeus		Organomegaly	Ear creases/pits	Facial naevus flammeus
	Hemihypertrophy				Hemihypertrophy
	Hypoglycaemia				Hemihypertrophy
	Hypoglycaemia				Hypoglycaemia
	Nephromegaly
			Renal malformation	Facial naevus flammeus
				Hemihypertrophy
				Hypoglycaemia
				Mid-face hypoplasia
				Polyhydramnios
Clinical diagnosis of Beckwith-Wiedemann syndrome	At least three major features, or two major features plus three or more minor features	At least two major features	At least three major features, or two major features and one or more minor features	At least three major features, or two major features and one or more minor features	Complete and incomplete Beckwith-Wiedemann syndrome classification.
					Complete – at least three major features.
					Incomplete – less than three major features and one or more minor features

ISSN: 1868-7083