How to cite this article: Ferguson JS, Gunatheesan S, Brice G, Hastings R, Newbury-Ecob R, Mortimer PS, Mansour S. 2011. Primary lymphedema with coarctation of the aorta: Possible new syndrome or variant of Irons–Bianchi syndrome? Am J Med Genet Part A 155: 2762–2765.
Primary lymphedema with coarctation of the aorta: Possible new syndrome or variant of Irons–Bianchi syndrome?†
Article first published online: 22 SEP 2011
Copyright © 2011 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part A
Volume 155, Issue 11, pages 2762–2765, November 2011
How to Cite
Ferguson, J. S., Gunatheesan, S., Brice, G., Hastings, R., Newbury-Ecob, R., Mortimer, P. S. and Mansour, S. (2011), Primary lymphedema with coarctation of the aorta: Possible new syndrome or variant of Irons–Bianchi syndrome?. Am. J. Med. Genet., 155: 2762–2765. doi: 10.1002/ajmg.a.34188
- Issue published online: 20 OCT 2011
- Article first published online: 22 SEP 2011
- Manuscript Accepted: 21 MAY 2011
- Manuscript Received: 24 NOV 2010
- coarctation of the aorta;
- congenital heart defect;
- Irons–Bianchi syndrome;
- Mucke syndrome
We present a boy with congenital lymphedema, a congenital heart defect (coarctation of the aorta), and mild dysmorphic features. Clinical impression and targeted investigations ruled out Noonan syndrome and Milroy syndrome, but it was not clear whether or not he had Irons–Bianchi syndrome. We discuss the genomic and lymphoscintigraphy evaluation of this case, and review whether the small number of current case reports represent the original Irons–Bianchi syndrome or variants. We anticipate that ongoing molecular investigations such as Next Generation Sequencing will delineate a currently clinically defined phenotypic spectrum. © 2011 Wiley Periodicals, Inc.