Spivey Pamela S, Bradshaw Wanda T
Levine Children's Hospital, Department of Neonatology, Charlotte, North Carolina 28204, USA.
Adv Neonatal Care. 2009 Dec;9(6):279-84; quiz 285. doi: 10.1097/ANC.0b013e3181c2003f.
Beckwith-Wiedemann Syndrome (BWS) is the most common overgrowth syndrome in infancy. The characteristic findings are macroglossia, abdominal wall defects, and macrosomia. Genetic studies in infants with BWS demonstrate 3 major subgroups of patients: familial, sporadic, or chromosomally abnormal. Recognition in the neonatal period is important because of the high incidence of childhood malignant tumors associated with BWS. This article provides an overview of the syndrome and discusses its etiology, physical findings, and diagnostic evaluation. Management and clinical implications including family support will also be discussed.
贝克威思-维德曼综合征（BWS）是婴儿期最常见的过度生长综合征。其特征性表现为巨舌、腹壁缺损和巨大儿。对患有BWS的婴儿进行的基因研究表明，患者主要分为3个亚组：家族性、散发性或染色体异常性。由于与BWS相关的儿童期恶性肿瘤发病率较高，因此在新生儿期进行识别很重要。本文概述了该综合征，并讨论了其病因、体格检查结果和诊断评估。还将讨论包括家庭支持在内的管理和临床意义。
