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, ss.1737-1742, 2013 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: Konu: 7
  • Basım Tarihi: 2013
  • Doi Numarası: 10.1002/ajmg.a.35954
  • Dergi Adı: AMERICAN JOURNAL OF MEDICAL GENETICS PART A
  • Sayfa Sayıları: ss.1737-1742

Özet

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.

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