Camptodactyly-arthropathy-coxa vara-pericarditis (CACP) syndrome, caused by biallelic pathogenic mutations in the PRG4 gene, is characterized by early-onset camptodactyly, noninflammatory arthropathy, coxa vara deformity, and rarely, pericardial effusion. Herein, we report 3 patients with CACP syndrome from 2 unrelated families. All patients are female, born to consanguineous parents, and had camptodactyly since the first years of their lives. Two patients had a prior diagnosis of juvenile idiopathic arthritis. Hip changes were present in 2 patients, and 2 of 3 patients had undergone surgery for camptodactyly. Routine echocardiographic evaluations were normal during the 2-year follow-up. This paper represents the third study including CACP patients from Turkey. Clinically, all 3 patients resembled juvenile idiopathic arthritis cases and received unnecessary medication. There is also an ongoing need for improving awareness of CACP and an effective treatment focusing on the lubrication of the joint space in CACP patients.
Mol Syndromol

中文翻译：

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类似青少年特发性关节炎的弯曲指关节病-Coxa Vara-心包炎综合征：来自土耳其南部的单中心经验

由PRG4 中的双等位基因致病突变引起的弯指 - 关节病 - 髋内翻 - 心包炎 (CACP) 综合征该基因的特点是早发性弯曲、非炎症性关节病、髋内翻畸形和罕见的心包积液。在此，我们报告了来自 2 个无关家庭的 3 名 CACP 综合征患者。所有患者都是女性，由近亲父母所生，并且从他们生命的最初几年开始就患有弯曲指。两名患者事先被诊断为幼年特发性关节炎。2 名患者出现髋关节改变，3 名患者中有 2 名接受了弯曲手术。2 年随访期间常规超声心动图评估正常。本文代表了第三项研究，包括来自土耳其的 CACP 患者。临床上，所有 3 名患者都类似于幼年特发性关节炎病例，并接受了不必要的药物治疗。
摩尔综合征