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Beckwith-Wiedemann Syndrome: Three case reports

Joana Moscoso1, Filipa Cirurgiao1, Joana Dias2, Ana Laura Fitas3,Catarina Diamantino3, Rosa Pina3, Lurdes Lopes3

1 - Hospital de Sao Francisco Xavier, Centro Hospitalar Lisboa Ocidental, Lisboa, Portugal
2 - Hospital Beatriz Angelo, Lisboa, Portugal
3 - Hospital de Dona Estefania, Centro Hospitalar Lisboa Central, Lisboa, Portugal

- Reunião da Sociedade Portuguesa de Endocrinologia e Diabetologia Pediátrica, reunião nacional, publicação sob a forma de resumo

Beckwith-Wiedemann Syndrome (BWS) is an overgrowth disorder, occurring in 1/13,700 births. BWS is usually sporadic, but 15% of cases are familial. Variable phenotype may include overgrowth, macroglossia, abdominal wall defects, neonatal hypoglycemia, lateralized overgrowth and predisposition to embryonal tumors. We describe three male cases of BWS followed at our clinic. BWS remains a diagnostic challenge and the existence of milder forms of the disease probably underestimates its incidence.  Infants with BWS are at increased risk for mortality, due to complications of prematurity, macroglossia, hypoglycemia, tumors, and, rarely, cardiomyopathy. These cases presented with macroglossia, one with hypoglycemia and two with prematurity but none developed tumors.  The increased risk for neoplasia occurs in the first eight years of life. Prognosis is generally favorable after early childhood. Embryonal tumors’ screening should be stratified according to genotype and multidisciplinary approach should be performed.