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亚伯拉罕·林肯患马方综合征样的母亲:最早已知的2B型多发性内分泌腺瘤病病例?

Abraham Lincoln's marfanoid mother: the earliest known case of multiple endocrine neoplasia type 2B?

作者信息

Sotos John G

机构信息

Department of Medicine, University of North Carolina School of Medicine, Chapel Hill, North Carolina, USA.

出版信息

Clin Dysmorphol. 2012 Jul;21(3):131-136. doi: 10.1097/MCD.0b013e328353ae0c.

Abstract

The nature and cause of President Abraham Lincoln's unusual physical features have long been debated, with the greatest attention directed at two monogenic disorders of the transforming growth factor β system: Marfan syndrome and multiple endocrine neoplasia type 2B. The present report examines newly discovered phenotypic information about Lincoln's biological mother, Nancy Hanks Lincoln, and concludes that (a) Lincoln's mother was skeletally marfanoid, (b) the President and his mother were highly concordant for the presence of numerous facial features found in various transforming growth factor β disorders, and (c) Lincoln's mother, like her son, had hypotonic skeletal muscles, resulting in myopathic facies and 'pseudodepression'. These conclusions establish that mother and son had the same monogenic autosomal dominant marfanoid disorder. A description of Nancy Hanks Lincoln as coarse-featured, and a little-known statement that a wasting disease contributed to her death at age 34, lends support to the multiple endocrine neoplasia type 2B hypothesis.

摘要

亚伯拉罕·林肯总统不同寻常的身体特征的本质和成因长期以来一直存在争议,其中最受关注的是转化生长因子β系统的两种单基因疾病:马凡综合征和2B型多发性内分泌肿瘤。本报告研究了有关林肯生母南希·汉克斯·林肯的新发现的表型信息,并得出以下结论:(a)林肯的母亲骨骼呈马凡样;(b)总统与其母亲在各种转化生长因子β疾病中出现的众多面部特征方面高度一致;(c)林肯的母亲和她儿子一样,骨骼肌张力减退,导致肌病面容和“假性抑郁”。这些结论表明,母子二人患有相同的单基因常染色体显性马凡样疾病。将南希·汉克斯·林肯描述为面容粗糙,以及一项鲜为人知的说法,即一种消耗性疾病导致她34岁死亡,这为2B型多发性内分泌肿瘤假说提供了支持。

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