Beckwith-Wiedemann syndrome

Abstract

Beckwith-Wiedemann syndrome is a complex and infrequent genetic disorder associated with chromosome 11p15 changes characterized by overgrowth, abdominal wall defects, macroglossia, neonatal hypoglyce-mia and predisposition to embryonal tumors. It is diagnosed following different clinical and para-clinical diagnostic criteria and its early diagnosis is essential due to the risk of complications, highlighting the increased incidence of different tumors. We present the case of a 6-month-old girl,with no personal nor family history of significance, in whom Beckwith-Wiedemann syndrome diagnosis was made and a close follow-up was undertaken.