Article
Beckwith-Wiedemann syndrome: clinical and etiopathogenic aspects of a model genomic imprinting entity.
Archivos argentinos de pediatria - 1 Oct 2018
Cammarata-Scalisi Francisco, Avendaño Andrea, Stock Frances, Callea Michele, Sparago Angela, Riccio Andrea
Abstract excerpt
The Beckwith-Wiedemann syndrome is the most common genetic entity in overgrowth, with an approximate incidence of 1 in 10 00013 700births. Its broad clinical spectrum includes pre- and postnatal macrosomia, macroglossia, pinna abnormalities, abdominal wall defects, visceromegaly, and hyperinsulinemic hypoglycemia. This syndrome predisposes to childhood cancer and is caused by diverse genetic and/or epigenetic...
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