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Table 5 Published clinical diagnostic criteria for Beckwith-Wiedemann syndrome

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

  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 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
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