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Lymphedema, cardiac septal defects, and characteristic facies: Possible new case of Irons–Bianchi syndrome
Author(s) -
van Steensel M.A.M.,
van Geel M.,
SchranderStumpel C.,
Steijlen P.M.,
Veraart J.C.J.M.
Publication year - 2007
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.31949
Subject(s) - lymphedema , medicine , atrioventricular cushions , dermatology , heart disease , cancer , breast cancer
Abstract 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. © 2007 Wiley‐Liss, Inc.