Oculo–facio–cardio–dental syndrome with craniosynostosis, temporal hypertrichosis, and deafness. Issue 5 (20th March 2017)

• Record Type: Journal Article
• Authors: O'Byrne, James J.; Laffan, Eoghan; Murray, Dylan J.; Reardon, William
• Is Part Of: American journal of medical genetics. Volume 173:Issue 5(2017)
• Page Start: 1374
• Page End: 1377
• Publication Date: 2017-03-20
• Subjects: BCL 6 interacting co‐repressor gene -- Gorlin–Chaudhry–Moss syndrome -- oculo–facio–cardio–dental syndrome; Medical genetics -- Periodicals; 616.14205
• DOI: 10.1002/ajmg.a.38128
• Languages: English
• ISSNs: 1552-4825

Abstract

Abstract : We report the case of a 7‐month‐old girl with atypical oculo–facio–cardio–dental syndrome (OFCD). A novel de novo pathogenic mutation in the BCL6 interacting co‐repressor gene ( BCOR ) (c.4540C>T; p.Arg1514*), was identified on the X chromosome. This case expands the phenotype of OFCD as it is the first report of a case presenting with craniosynostois, temporal hypertrichosis, supraorbital grooving, and underdevelopment of the midface.