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Gorlin–chaudhry–moss syndrome revisited: Expanding the phenotype


  • Conflict of interest: none.

Correspondence to:

Rasim O. Rosti, M.D., Department of Neuroscience, University of California, San Diego, 9500 Gilman Drive, M/C 0665, LBR, Rm 481 La Jolla, CA 92093-0665.



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.