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Gorlin–chaudhry–moss syndrome revisited: Expanding the phenotype
Author(s) -
Rosti Rasim O.,
Karaer Kadri,
Karaman Birsen,
Torun Deniz,
Guran Sefik,
Bahce Muhterem
Publication year - 2013
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.35954
Subject(s) - craniofacial , hypertrichosis , phenotype , medicine , larynx , presentation (obstetrics) , dermatology , anatomy , biology , genetics , surgery , gene
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.