Literature DB >> 21910232

Two sisters resembling Gorlin-Chaudhry-Moss syndrome.

Teresa Aravena1, Cristóbal Passalacqua, Oscar Pizarro, Mariana Aracena.   

Abstract

The Gorlin-Chaudhry-Moss syndrome (GCMS), was describe initially by Gorlin et al. [Gorlin et al. (1960)] in two sisters with craniosynostosis, hypertrichosis, hypoplastic labia majora, dental defects, eye anomalies, patent ductus arteriosus, and normal intelligence. Two other sporadic instances have been documented. Here, we report on two sisters with a condition with some similarities to GCMS as well as some differences, which could represent either previously unreported variability in GCMS, or it may represent a novel disorder.
Copyright © 2011 Wiley-Liss, Inc.

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Year:  2011        PMID: 21910232     DOI: 10.1002/ajmg.a.34204

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN: 1552-4825            Impact factor:   2.802


  3 in total

1.  Fontaine progeroid syndrome-A case report.

Authors:  Sinéad Lally; Nicola Walsh; Janna Kenny; Orla Franklin; Melanie Cotter; Sarah Richardson; Fiona McEligott; Alan Finan
Journal:  Clin Case Rep       Date:  2022-09-06

2.  De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction.

Authors:  Nadja Ehmke; Luitgard Graul-Neumann; Lukasz Smorag; Rainer Koenig; Lara Segebrecht; Pilar Magoulas; Fernando Scaglia; Esra Kilic; Anna F Hennig; Nicolai Adolphs; Namrata Saha; Beatrix Fauler; Vera M Kalscheuer; Friederike Hennig; Janine Altmüller; Christian Netzer; Holger Thiele; Peter Nürnberg; Gökhan Yigit; Marten Jäger; Jochen Hecht; Ulrike Krüger; Thorsten Mielke; Peter M Krawitz; Denise Horn; Markus Schuelke; Stefan Mundlos; Carlos A Bacino; Penelope E Bonnen; Bernd Wollnik; Björn Fischer-Zirnsak; Uwe Kornak
Journal:  Am J Hum Genet       Date:  2017-11-02       Impact factor: 11.025

3.  A 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.

Authors:  Jaehui Ryu; Jung Min Ko; Choong-Ho Shin
Journal:  BMC Med Genet       Date:  2019-11-27       Impact factor: 2.103

  3 in total

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