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拉布森-门登霍尔综合征:两例病例报告并文献复习。

Rabson-Mendenhall syndrome: two case reports and a brief review of the literature.

机构信息

Department of Oral Medicine & Radiology, School of Dental Sciences, Sharda University (Deemed University), Plot #32-34, Knowledge Park III, Greater Noida, U. P., 201306, India.

出版信息

Odontology. 2010 Feb;98(1):89-96. doi: 10.1007/s10266-009-0106-7. Epub 2010 Feb 16.

Abstract

Rabson-Mendenhall syndrome is a rare, autosomal recessive disorder characterized by insulin resistance syndrome, growth retardation, coarse and senile-looking faces, mental precocity, early dentition, and pineal hyperplasia. Mutations of the insulin receptor gene affecting insulin action appear to be the basic mechanism underlying this syndrome. We report on Rabson-Mendenhall syndrome in two siblings and briefly review the literature.

摘要

拉布森-门登霍尔综合征是一种罕见的常染色体隐性遗传病,其特征为胰岛素抵抗综合征、生长迟缓、面容粗糙和显老、智力早熟、出牙早以及松果体增生。影响胰岛素作用的胰岛素受体基因突变似乎是该综合征的基本机制。我们报告了两例兄弟姐妹的拉布森-门登霍尔综合征病例,并简要复习了文献。

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