中国全科医学2024，Vol.27Issue(36)：4615-4620,6.DOI:10.12114/j.issn.1007-9572.2024.0144
新生儿Beckwith-Wiedemann综合征一例报道及文献复习
A Case Report of Neonatal Beckwith-Wiedemann Syndrome and Literature Review
曾柳钰 1杨秀芳1
作者信息
- 1. 524023 广东省湛江市,广东医科大学||528403 广东省中山市人民医院新生儿科
- 折叠
摘要
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,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.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Key words
Beckwith-Wiedemann syndrome/Cyclin dependent kinase inhibitor 1C/Hyperglossia/Case reports分类
医药卫生引用本文复制引用
曾柳钰,杨秀芳..新生儿Beckwith-Wiedemann综合征一例报道及文献复习[J].中国全科医学,2024,27(36):4615-4620,6.
