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 | Â | Organomegaly | Ear creases/pits | Facial naevus flammeus | |
Hemihypertrophy | Hemihypertrophy | ||||
Hypoglycaemia | |||||
Hypoglycaemia | |||||
Nephromegaly | Â | Â | |||
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 |