Am J Med Genet A. 2007 Sep 12
van Steensel MA, van Geel M, Schrander-Stumpel C, Steijlen PM, Veraart JC.
email: M.A.M. van Steensel (mvst@sder.azm.nl)
*Correspondence to M.A.M. van Steensel, Department of Dermatology, University Hospital Maastricht, P.O. Box 5800, 6202 AZ Maastricht, The Netherlands.
Department of Dermatology, University Hospital Maastricht, Maastricht, The Netherlands.
We describe a Dutch girl with fetal hydrops, congenital lymphedema of the lower legs, complex congenital cardiac malformation, and a typical face with epicanthal folds. This particular combination of symptoms has been previously described by Irons and Bianchi in 1996. Our report confirms their observation and suggests that this particular constellation of symptoms may constitute a new syndrome. Molecular analysis confirms this statement by demonstrating absence of mutations in several genes known to be involved in syndromes with lymphedema.
(c) 2007 Wiley-Liss, Inc.
