How to Cite this Article: Al-Hertani W, Hastings VA, McGowan-Jordan J, Hurteau J, Graham GE. 2012. Severe craniosynostosis in an infant with deletion 22q11.2 syndrome. Am J Med Genet Part A 161A:153–157.
Severe craniosynostosis in an infant with deletion 22q11.2 syndrome†
Article first published online: 13 DEC 2012
Copyright © 2012 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part A
Volume 161, Issue 1, pages 153–157, January 2013
How to Cite
Al-Hertani, W., Hastings, V.A., McGowan-Jordan, J., Hurteau, J. and Graham, G. E. (2013), Severe craniosynostosis in an infant with deletion 22q11.2 syndrome. Am. J. Med. Genet., 161: 153–157. doi: 10.1002/ajmg.a.35491
- Issue published online: 22 DEC 2012
- Article first published online: 13 DEC 2012
- Manuscript Accepted: 20 APR 2012
- Manuscript Received: 21 SEP 2011
- deletion 22q11.2 syndrome;
- cloverleaf skull
We report a male infant with 22q11.2 deletion syndrome and very severe multi-sutural craniosynostosis associated with increased intracranial pressure, marked displacement of brain structures, and extensive erosion of the skull. While uni- or bi-sultural craniosynostosis is a recognized (though relatively uncommon) feature of 22q11 deletion syndrome, a severe multi-sutural presentation of this nature has never been reported. SNP Microarray was otherwise normal and the patient did not have common mutations in FGFR2, FGFR3, or TWIST associated with craniosynostosis. While markedly variable expressivity is an acknowledged feature of deletion 22q11 syndrome, herein we also consider and discuss the possibility that this infant may have been additionally affected with an undiagnosed single gene disorder. © 2012 Wiley Periodicals, Inc.