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作者

冯婷婷 沈 鑫 李尚滨

作者单位

山东第一医科大学附属省立医院全科医学科，山东 济南 山东第一医科大学附属省立医院全科医学科，山东 济南 山东第一医科大学附属省立医院老年医学科，山东 济南

刊名

Advances in Clinical Medicine

年份

2024

卷号

Vol.14 No.12

页码

1072-1077

ISSN

2161-8712

关键词

Noonan综合征 遗传性疾病 特殊面容 新生儿 Noonan Syndrome Hereditary Disorders Special Facial Features Neonatal

摘要

Noonan syndrome is a hereditary disease caused by mutations in genes related to the RAS-mitogen-activated protein kinase signalling pathway , which is predominantly inherited in an autosomal dominant manner, with individual mutations leading to autosomal recessive inheritance. At present, there is still a lack of experience in the diagnosis and treatment of NS in China, and most of the diagnosis relies on the clinical features of the patient that become obvious with age and the NS-related gene ...更多

Noonan syndrome is a hereditary disease caused by mutations in genes related to the RAS-mitogen-activated protein kinase signalling pathway , which is predominantly inherited in an autosomal dominant manner, with individual mutations leading to autosomal recessive inheritance. At present, there is still a lack of experience in the diagnosis and treatment of NS in China, and most of the diagnosis relies on the clinical features of the patient that become obvious with age and the NS-related gene test. This means that it may not be possible to detect and diagnose NS in time and intervene in the disease progression of NS as early as possible, so that by the time the patient seeks treatment for various NS-related complications, irreversible organic damage has already occurred. A case of neonatal Noonan syndrome admitted to the Provincial Hospital of Shandong First Medical University was retrospectively analysed and the relevant literature was reviewed and summarized. The aim is to provide clinicians with relevant diagnostic experience and improve their knowledge and understanding of NS.收起

文献类型

期刊