Is Gorlin–Chaudhry–Moss syndrome associated with aortopathy?
Open Access
- 1 May 2020
- journal article
- editorial
- Published by Oxford University Press (OUP) in European Journal of Cardio-Thoracic Surgery
- Vol. 58 (3), 654-655
- https://doi.org/10.1093/ejcts/ezaa108
Abstract
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.This publication has 5 references indexed in Scilit:
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