Gorlin–chaudhry–moss syndrome revisited: Expanding the phenotype. Issue 7 (17th May 2013)

• Record Type: Journal Article
• Authors: Rosti, Rasim O.; Karaer, Kadri; Karaman, Birsen; Torun, Deniz; Guran, Sefik; Bahce, Muhterem
• Is Part Of: American journal of medical genetics. Volume 161:Issue 7(2013:Jul.)
• Page Start: 1737
• Page End: 1742
• Publication Date: 2013-05-17
• Subjects: Medical genetics -- Periodicals; 616.14205
• DOI: 10.1002/ajmg.a.35954
• Languages: English
• ISSNs: 1552-4825

Abstract

<abstract abstract-type="main" xml:lang="en"> <title>Abstract</title> <sec id="ajmga35954-sec-0001" sec-type="section"> <p>Gorlin–Chaudhry–Moss syndrome (OMIM 233500) is a rare congenital malformation syndrome with the cardinal manifestations of craniofacial dysostosis, hypertrichosis, underdeveloped genitalia, ocular, and dental anomalies. Since 1960, only six affected individuals have been reported. We report a 4‐year and 6‐month‐old female patient with this phenotype and review the clinical presentation of all patients known so far. Previously unreported malformations of the extremities, larynx, and nose are also described, expanding the phenotype of this rare syndrome. Array‐CGH analysis did not show pathological deletions or duplications. © 2013 Wiley Periodicals, Inc.</p> </sec> </abstract>