Suppr超能文献

豹皮综合征。

LEOPARD Syndrome.

作者信息

Ghosh Sudip Kumar, Majumdar Biswajit, Rudra Olympia, Chakraborty Sougat

机构信息

R.G.Kar Medical College, Kolkata.

出版信息

Dermatol Online J. 2015 Oct 16;21(10):13030/qt2d55s0t1.

Abstract

LEOPARD syndrome (LS) is an autosomal dominantly inherited or sporadic disorder of variable penetrance and expressivity. The acronym LEOPARD stands for its cardinal clinical features including Lentigines, Electrocardiographic conduction abnormalities, Ocular hypertelorism, Pulmonary stenosis, Abnormalities of genitalia, Retardation of growth, and Deafness. We present herein a patient with LEOPARD syndrome and distinctive features. It was noteworthy that our patient presented with the concern of generalized lentiginosis and subsequent evaluation revealed that the patient had LEOPARD syndrome. In this report we would like to highlight the importance of detailed clinical examination and appropriate imaging in patients with multiple lentigines.

摘要

豹皮综合征(LS)是一种常染色体显性遗传或散发的疾病,其外显率和表现度各不相同。首字母缩写词LEOPARD代表其主要临床特征,包括雀斑样痣、心电图传导异常、眼距增宽、肺动脉狭窄、生殖器异常、生长发育迟缓及耳聋。我们在此报告一例具有独特特征的豹皮综合征患者。值得注意的是,我们的患者最初因泛发性雀斑样痣前来就诊,后续评估发现其患有豹皮综合征。在本报告中,我们想强调对多发雀斑样痣患者进行详细临床检查及适当影像学检查的重要性。

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验