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Title: Beckwith-Wiedemann syndrome review : a guide for the neonatal nurse
Authors: Zammit, Matthew
Caruana, Elton
Cassar, David
Calleja-Agius, Jean
Keywords: Epigenetics
Children -- Diseases
Infant health services
Growth disorders
Issue Date: 2017
Publisher: Springer Publishing Company
Citation: Zammit, M., Caruana, E., Cassar, D., & Calleja-Agius, J. (2017). Beckwith-Wiedemann syndrome review : a guide for the neonatal nurse. Neonatal Network, 36(3), 129-133.
Abstract: Beckwith-Wiedemann syndrome (BWS) is the most common pediatric overgrowth syndrome. Features characteristic of the BWS phenotype include both physical attributes, such as macroglossia, abdominal wall defects, gigantism, nevus flammeus, visceromegaly, and mid-face hypoplasia, as well as biochemical abnormalities such as hypoglycemia. It is essential for the neonatal nurse to be able to recognize BWS in the patient’s early years of life because of the increased frequency of medical complications, malformations, and the increased risk of embryonic malignancies. This article focuses on the presentation of BWS as an aid to early detection.
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