Zammit Matthew, Caruana Elton, Cassar David, Calleja-Agius Jean
Neonatal Netw. 2017 May 1;36(3):129-133. doi: 10.1891/0730-0832.36.3.129.
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.
贝克威思-维德曼综合征(BWS)是最常见的小儿过度生长综合征。BWS表型的特征包括身体特征,如巨舌症、腹壁缺损、巨人症、葡萄酒色斑、内脏肿大和面部中部发育不全,以及生化异常,如低血糖。新生儿护士必须能够在患者早年识别出BWS,因为其医疗并发症、畸形的发生率增加,以及胚胎恶性肿瘤的风险增加。本文重点介绍BWS的表现,以帮助早期检测。