Suppr超能文献

一个比利时家庭中的I型毛发-鼻-指综合征。

Tricho-rhino-phalangeal syndrome type I in a Belgian family.

作者信息

Verbruggen L A, Van Laere C, Lamoureux J, Van Tiggelen R

出版信息

Clin Rheumatol. 1987 Jun;6(2):185-91. doi: 10.1007/BF02201022.

Abstract

We report three cases of tricho-rhino-phalangeal syndrome (TRPS) type I in a Belgian family. They presented typical characteristics such as a pear-shaped nose, and short, deformed fingers with cone-shaped epiphyses of some middle phalanges of the hands. Hair growth was practically normal in our patients, except for some narrowing of the lateral part of the eyebrows. Perthes-like hip dysplasia was documented in two of our cases. The proband presented at the age of 31 with Kienböch's disease of the right wrist. Blood and urine analysis showed no clear anomalies. In this patient, echography revealed a renal cyst containing a stone. The relationship of these findings to TRPS is discussed.

摘要

我们报告了一个比利时家族中的3例I型毛发-鼻-指综合征(TRPS)。他们表现出典型特征,如梨形鼻,以及手部一些中节指骨骨骺呈锥形的短而畸形的手指。除了眉毛外侧部分有些变窄外,我们患者的毛发生长基本正常。我们的2例患者记录有佩特兹样髋关节发育不良。先证者31岁时出现右手舟骨缺血性坏死。血液和尿液分析未显示明显异常。在该患者中,超声检查发现一个肾囊肿内有结石。讨论了这些发现与TRPS的关系。

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验