Affiliation:
1. Department of Cardiothoracic Surgery, Leiden University Medical Center, Leiden, Netherlands
2. Department of Radiology, Leiden University Medical Center, Leiden, Netherlands
Abstract
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.
Publisher
Oxford University Press (OUP)
Subject
Cardiology and Cardiovascular Medicine,Pulmonary and Respiratory Medicine,General Medicine,Surgery
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