Department of Cardiothoracic Surgery, Leiden University Medical Center, Leiden, Netherlands.
Department of Radiology, Leiden University Medical Center, Leiden, Netherlands.
Eur J Cardiothorac Surg. 2020 Sep 1;58(3):654-655. doi: 10.1093/ejcts/ezaa108.
Gorlin-Chaudhry-Moss syndrome (GCMS) is a rare disorder consisting of craniofacial dysostosis, hypertrichosis, underdeveloped genitalia, and ocular and dental anomalies. Recently, GCMS has been reclassified together with Fontaine syndrome as Fontaine progeroid syndrome (FPS), after a common genetic basis was found. It was previously thought that GCMS/FPS was not associated with aortopathy, but in recent years 3 patients with aortic disease have been described. We describe the fourth case, who is the oldest patient with GCMS/FPS reported in the medical literature: a 45-year-old patient who presented with acute aortic dissection. We therefore recommend screening patients previously diagnosed with GCMS/FPS for aortic pathology to aid early detection and avoid patient presentation in an acute setting.
戈尔林-乔德里-莫斯综合征（GCMS）是一种罕见的疾病，包括颅面发育不全、多毛症、生殖器发育不全以及眼部和牙齿异常。最近，在发现共同的遗传基础后，GCMS 已与 Fontaine 综合征一起重新分类为 Fontaine 早衰综合征（FPS）。此前认为 GCMS/FPS 与主动脉病无关，但近年来已描述了 3 例主动脉疾病患者。我们描述了第四例病例，这是文献中报道的最年长的 GCMS/FPS 患者：一位 45 岁的患者，表现为急性主动脉夹层。因此，我们建议对以前诊断为 GCMS/FPS 的患者进行主动脉病理筛查，以帮助早期发现并避免患者在急性情况下就诊。
