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2023

ANUÁRIO DO HOSPITAL
DONA ESTEFÂNIA

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Multiple haemangiomas, diaphragmatic eventration and Beckwith-Wiedemann syndrome: an unusual association

Telma Francisco1, Rui Miguel Gonçalves2, Cristina Borges3, Maria Teresa Neto4

1 Departamento de Pediatria do Hospital de Dona Estefânia, Centro Hospitalar de Lisboa Central, Lisboa;
2 Serviço de Genética Médica do Hospital de Dona Estefânia, Centro Hospitalar de Lisboa Central, Lisboa;
3 Serviço de Cirurgia Pediátrica do Hospital de Dona Estefânia, Centro Hospitalar de Lisboa Central, Lisboa;
4 Unidade de Cuidados Intensivos Neonatais do Hospital de Dona Estefânia, Centro Hospitalar de Lisboa Central, Lisboa

BMJ Case Reports. 2013 Aug 20;2013.

Resumo:
A 6-month-old girl with Beckwith-Wiedemann syndrome, multiple haemangiomas (axillary, laryngeal, pulmonary and hepatic) and diaphragmatic eventration was reported. All tumours responded to treatment with propranolol. The surgical correction of diaphragmatic eventration was crucial to a better outcome.