Bicoronal and metopic craniosynostosis in association with a de novo unbalanced t(2;7) chromosomal translocation. Issue 1 (24th October 2016)

• Record Type: Journal Article
• Authors: O'Byrne, James J.; Ryan, Helen; Murray, Dylan J.; Regan, Regina; Betts, David R.; Murphy, Nuala; Casey, Jillian P.; Lynch, Sally A.
• Is Part Of: American journal of medical genetics. Volume 173:Issue 1(2017)
• Page Start: 274
• Page End: 279
• Publication Date: 2016-10-24
• Subjects: metopic -- coronal -- craniosynostosis -- translocation; Medical genetics -- Periodicals; 616.14205
• DOI: 10.1002/ajmg.a.38001
• Languages: English
• ISSNs: 1552-4825

Abstract

Abstract : We report the case of a developmentally appropriate infant male with a de novo unbalanced chromosome translocation involving bands 2q32.1 and 7p21.3. The child was noted to have metopic and bicoronal craniosynostosis with closely spaced eyes, turricephaly, and flattening of the forehead. © 2016 Wiley Periodicals, Inc.