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, we report a case of a neonate with a large tongue as the first symptom, hypoglycemia during hospitalization, and umbilical hernia in the late follow-up, and genetic testing results suggesting that he carried a c.235T>C (p.Trp79Arg) variant as a missense variant in the coding region of the cyclin dependent kinase inhibitor 1C (CDKN1C) gene, and that a T→C transition in nucleotides at position 235 of the CDKN1C gene, i.e., a missense mutation in the amino acid located in amino acid 79. This resulted in the mutation of tryptophan to arginine. Combining the clinical features of the child with the genetic test results, the diagnosis of BWS was confirmed. The purpose of this case report and the related genetic research progress is to improve the understanding of the clinical diagnosis and treatment of BWS, and to avoid misdiagnosis and under-diagnosis.

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.235T>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。