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.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7453031 | PMC |
| http://dx.doi.org/10.1093/ejcts/ezaa108 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Performance evaluation of CMIP6 climate models for selecting a suitable GCM for future precipitation at different places of Tamil Nadu.
Environ Monit Assess
July 2023
Department of Environmental and Water Resources Engineering, School of Civil Engineering, Vellore Institute of Technology, Vellore, 632014, Tamil Nadu, India.
Climate change refers to long-term variations in climate parameters. Future climate information can be projected using a GCM (General Circulation Model). Identifying a particular GCM is crucial for climate impact studies.
View Article and Find Full Text PDFDifferent GCMs yet similar outcome: predicting the habitat distribution of Shorea robusta C.F. Gaertn. in the Indian Himalayas using CMIP5 and CMIP6 climate models.
Environ Monit Assess
May 2023
Department of Botany, University of Delhi, Delhi, 110007, India.
Climate change impact on the habitat distribution of umbrella species presents a critical threat to the entire regional ecosystem. This is further perilous if the species is economically important. Sal (Shorea robusta C.
View Article and Find Full Text PDFIs Gorlin-Chaudhry-Moss syndrome associated with aortopathy?
Eur J Cardiothorac Surg
September 2020
Department of Cardiothoracic Surgery, Leiden University Medical Center, Leiden, Netherlands.
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.
View Article and Find Full Text PDFA 9-year-old Korean girl with Fontaine progeroid syndrome: a case report with further phenotypical delineation and description of clinical course during long-term follow-up.
BMC Med Genet
November 2019
Department of Pediatrics, Seoul National University College of Medicine, Seoul National University Children's Hospital, 101 Daehak-ro, Jongno-gu, Seoul, 03080, South Korea.
Background: Gorlin-Chaudhry-Moss syndrome (GCMS) and Fontaine-Farriaux syndrome (FFS) are extremely rare genetic disorders that share similar clinical manifestations. Because a de novo missense mutation of the solute carrier family 25 member 24 (SLC25A24) gene was suggested to be the common genetic basis of both syndromes, it has been proposed recently that they be integrated into a single disorder under the name of Fontaine progeroid syndrome (FPS).
Case Presentation: A 9-year-old Korean girl presented with typical clinical features of FPS.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!