贝克威思-威德曼综合征与双胞胎：病例报告及文献复习。
Beckwith-Wiedemann syndrome and twinning: case report and brief review of literature.
机构信息
Department of Medicine, Surgery, and Health Sciences, University of Trieste, Via dell'Istria 65/1, Trieste, 34137, Italy.
Medical Genetics, Institute for Maternal and Child Health, IRCCS Burlo Garofolo, Trieste, Italy.
出版信息
Ital J Pediatr. 2023 Sep 25;49(1):127. doi: 10.1186/s13052-023-01530-8.
BACKGROUND
Beckwith-Wiedemann syndrome (BWS, OMIM #130,650) is a pediatric overgrowth disorder involving a predisposition to tumor development. Although the clinical management of affected patients is well established, it is less clear how to handle with the cases of siblings of affected patients, since the prevalence of the condition in twins (1:1000) is ten times higher than in singletones (1:10000).
CASE PRESENTATION
We report the case of a premature twin patient who during her follow-up develops a clinical phenotype compatible with BWS, genetically confirmed in blood. However, the methylation alteration characteristic of the condition was also found in the almost phenotypically normal sibling, making it challening her management.
CONCLUSION
Through our case report we highlight how the diagnosis of BWS can be made without any prenatal suspicion and we propose a review of the literature on how to manage siblings of affected patients in twinning situation.
背景
贝威二氏综合征（BWS，OMIM #130,650）是一种儿科过度生长障碍，涉及肿瘤发展的倾向。尽管受影响患者的临床管理已经确立，但如何处理受影响患者的兄弟姐妹的情况尚不清楚，因为双胞胎（1:1000）的患病率是单胎（1:10000）的十倍。
病例介绍
我们报告了一例早产双胞胎患者，在随访期间出现了与 BWS 一致的临床表型，该表型在血液中得到了基因证实。然而，该疾病特征的甲基化改变也在表型几乎正常的同胞中发现，这使其管理具有挑战性。
结论
通过我们的病例报告，我们强调了如何在没有任何产前怀疑的情况下做出 BWS 的诊断，并提出了对文献的回顾，以了解如何管理双胞胎中受影响患者的兄弟姐妹的情况。
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