男性患儿，10月龄，因发现右侧腹股沟可复性肿物及阴囊空虚10个月为择期手术入院。术前超声检查发现右侧肾上腺肿块，术后病理诊断为节细胞神经母细胞瘤。患儿的特征性临床表现有脐膨出、前额火焰状红斑、双耳垂褶皱、胚胎性肿瘤等。二代测序发现CDKN1C（chr11：2905365）基因杂合突变，确诊为Beckwith-Wiedemann综合征。该病早期诊断、规范化管理与肿瘤监测对患儿的预后有重要意义。超声检查可以早期发现肿瘤，为临床是否需要干预提供决策依据。

This paper reports the case of a 10-month-old male infant with Beckwith-Wiedemann syndrome (BWS) who presented with a reducible right inguinal mass and an empty scrotum for 10 months and was admitted for elective surgery. Preoperative ultrasonography revealed a right adrenal mass, which was pathologically diagnosed as ganglioneuroblastoma (GNB) after surgical excision. The patient exhibited characteristic features of BWS, including omphalocele, flame-shaped nevus on the forehead, bilateral earlobe creases, and embryonal tumor. Next-generation sequencing identified a heterozygous mutation in the CDKN1C gene (chr11:2905365), confirming the diagnosis of BWS. Early diagnosis, standardized management, and tumor surveillance are crucial for improving prognosis in children with BWS. Ultrasonography enables early detection of tumors and informs clinical decision-making regarding intervention.