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先天性挛缩性蜘蛛指(Beals-Hecht 综合征):一种罕见的结缔组织疾病。

Congenital contractural arachnodactyly (Beals-Hecht syndrome): a rare connective tissue disorder.

机构信息

Pediatric Cardiology Clinic, Jessenius Faculty of Medicine, Comenius University, Kollarova 13, 03601, Martin, Slovakia.

出版信息

Wien Klin Wochenschr. 2013 May;125(9-10):288-90. doi: 10.1007/s00508-013-0358-7. Epub 2013 Apr 18.

Abstract

Congenital contractural arachnodactyly (CCA) or Beals-Hecht syndrome (BHS) presents a very rare connective tissue disorder characterized by narrow body habitus, crumpled ears, arachnodactyly, contractures, and scoliosis. In our case report, the physical examination revealed typical physical findings to determine the physical diagnosis of BHS in contrast to negative finding on DNA analysis. From clinical point-of-view, it is important to include a complex clinical approach in making the diagnosis.

摘要

先天性挛缩性蜘蛛指(趾)畸形(CCA)或 Beals-Hecht 综合征(BHS)是一种非常罕见的结缔组织疾病,其特征为身材矮小、耳朵褶皱、蜘蛛指(趾)畸形、挛缩和脊柱侧凸。在我们的病例报告中,体格检查显示出典型的体格发现,以确定 BHS 的体格诊断,而 DNA 分析结果为阴性。从临床角度来看,重要的是在做出诊断时采用复杂的临床方法。

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