CACP syndrome and PRG4 mutation.

IF 0.6 Q3 MEDICINE, GENERAL & INTERNAL

BMJ Case Reports Pub Date : 2025-09-21 DOI:10.1136/bcr-2025-266148

Juliette Trochain, Cecilia Moscovici, Marie Le Nezet, Paul Legendre

引用次数: 0

Abstract

We report the case of a patient with a late diagnosis of camptodactyly-arthropathy-coxa vara-pericarditis syndrome, following his first episode of constrictive pericarditis in adulthood. We also aim to review the existing literature on this rare disease.

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CACP综合征与PRG4突变。

我们报告的病例患者的camptodacy关节病-髋外翻心包炎综合征的晚期诊断，继他的收缩性心包炎在成年期的第一次发作。我们还旨在回顾有关这种罕见疾病的现有文献。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

BMJ Case Reports Medicine-Medicine (all)

CiteScore

1.40

自引率

0.00%

发文量

1588

期刊介绍： BMJ Case Reports is an important educational resource offering a high volume of cases in all disciplines so that healthcare professionals, researchers and others can easily find clinically important information on common and rare conditions. All articles are peer reviewed and copy edited before publication. BMJ Case Reports is not an edition or supplement of the BMJ.