Is Gorlin–Chaudhry–Moss syndrome associated with aortopathy?

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...

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Published in:European journal of cardio-thoracic surgery 2020-09, Vol.58 (3), p.654-655
Main Authors: Legué, Juno, François, Jules H M, van Rijswijk, Carla S P, van Brakel, Thomas J
Format: Article
Language:English
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Case Reports
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Summary: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.
ISSN:1010-7940
1873-734X
DOI:10.1093/ejcts/ezaa108