中国实用儿科杂志

中国实用儿科杂志 ›› 2025, Vol. 40 ›› Issue (11): 964-968.DOI: 10.19538/j.ek2025110617

• 病例报告 • 上一篇    

Turnpenny-Fry综合征1例报告及文献复习

  

  1. 济南市儿童医院康复科，山东  济南  250022
  • 出版日期:2025-11-06 发布日期:2025-12-12
  • 通讯作者: 巩克波，电子信箱：695638021@qq.com

A Case Report and Literature Review of Turnpenny-Fry Syndrome

  1. Rehabilitation Department of Jinan Children’s Hospital，Jinan  250022，China
  • Online:2025-11-06 Published:2025-12-12

摘要： Turnpenny-Fry综合征是一种由PCGF2基因突变引起的罕见先天性发育异常疾病，特征为多系统发育受损，涵盖神经系统、骨骼系统及免疫系统功能异常。该文回顾性分析2023年9月济南市儿童医院收治的1例Turnpenny-Fry综合征病例，涉及多个未曾明确的临床表现，并伴随复杂的基因突变而具有特殊性，拓展该疾病的临床谱系。通过深入剖析患儿的临床特征及遗传学诊断结果，以期加深对Turnpenny-Fry综合征的病因机制和潜在发病途径的理解，为Turnpenny-Fry综合征的临床诊断提供参考，并为其基因型与表型关联的研究积累资料。

关键词:

Abstract: Turnpenny-Fry syndrome（OMIM：618371）is a rare congenital developmental disorder caused by mutations in the PCGF2 gene，characterized by multisystem developmental impairments involving the nervous，skeletal，and immune systems.This article retrospectively analyzes a case admitted to Jinan Children’s Hospital in September 2023 of Turnpenny-Fry syndrome with a specific PCGF2 gene mutation（c.68G>A）.The patient exhibited multiple previously unreported clinical manifestations，demonstrating the phenotypic complexity of this disorder.This unique case expands the known clinical spectrum of the syndrome.Through in-depth analysis of the clinical characteristics and genetic diagnosis，this study enhances understanding of the pathogenesis and potential disease mechanisms of Turnpenny-Fry syndrome.The findings provide valuable scientific insights for future advances in gene therapy and precision medicine approaches for this condition.

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