【摘要】 Beckwith-Wiedemann综合征(BWS)是一种生长障碍，BWS与BWS关键区印迹基因的异常表达有关，被认为是一种临床谱，其中受影响的个体可能具有许多或只有1～2个典型的临床特征。出生后新生儿查体尤为重要，有利于该疾病的早诊早治。本文报道了1例以舌大为首发症状的新生儿，住院期间出现低血糖，后期随访有脐疝，基因检测结果提示其携带的c.235Tgt;C(p.Trp79Arg)变异为细胞周期蛋白依赖性激酶抑制剂1C(CDKN1C)基因编码区错义变异，CDKN1C基因235位核苷酸发生T→C转换，即位于第79个氨基酸发生错义突变，导致色氨酸突变为精氨酸，结合患儿的临床特点与基因检测结果，确诊为BWS。本病例报告和相关遗传学研究进展旨在提高对BWS综合征临床诊疗的认识，避免误诊以及漏诊的发生。

    【关键词】 Beckwith-Wiedemann综合征；细胞周期蛋白依赖性激酶抑制剂1C；舌大；病例报告

    【中图分类号】 R 596.1 【文献标识码】 D DOI：10.12114/j.issn.1007-9572.2024.0144

    A Case Report of Neonatal Beckwith-Wiedemann Syndrome and Literature Review

    ZENG Liuyu1，2，YANG Xiufang1，2*

    1.Guangdong Medical University，Zhanjiang 524023，China

    2.Department of Neonatology，Zhongshan People's Hospital，Zhongshan 528403，China

    *Corresponding author：YANG Xiufang，Chief physician；E-mail：yxf8787@163.com

    【Abstract】 Beckwith-Wiedemann syndrome(BWS)is a growth disorder in which BWS is associated with aberrant expression of genes imprinted in the critical region of BWS and is considered a clinical spectrum in which affected individuals may have many or only one or two typical clinical features. Postnatal neonatal screening is particularly important to facilitate early diagnosis and treatment of this disorder. In this paper ......