Gorlin-chaudhry-moss syndrome revisited: Expanding the phenotype


Rosti R. O. , Karaer K., Karaman B. , Torun D., Güran S., Bahçe M.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, no.7, pp.1737-1742, 2013 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: Issue: 7
  • Publication Date: 2013
  • Doi Number: 10.1002/ajmg.a.35954
  • Title of Journal : AMERICAN JOURNAL OF MEDICAL GENETICS PART A
  • Page Numbers: pp.1737-1742

Abstract

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

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. (c) 2013 Wiley Periodicals, Inc.