Is Gorlin-Chaudhry-Moss syndrome associated with aortopathy?

Legue, J.; Francois, J.H.M.; Rijswijk, C.S.P. van; Brakel, T.J. van (2020)

Article / Letter to editor

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.

• Gorlin-Chaudhry-Moss syndrome
• Fontaine progeroid syndrome
• Aortopathy dissection

• All authors: Legue, J.; Francois, J.H.M.; Rijswijk, C.S.P. van; Brakel, T.J. van
• Date: 2020-09-01
• Journal: European Journal of Cardio-Thoracic Surgery
• Volume: 58
• Issue: 3
• Pages: 654 - 655
• DOI: doi:10.1093/ejcts/ezaa108
• Link: https://academic.oup.com/ejcts/article/58/3/654/5827589