title: Lymphedema, cardiac septal defects, and characteristic facies: possible new case of Irons-Bianchi syndrome.
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.
authors.affiliation: Department of Dermatology, University Hospital Maastricht, Maastricht, The Netherlands. mvst@sder.azm.nl
authors.forename: M A M
authors.initials: MA
authors.lastname: van Steensel
authors.forename: M
authors.initials: M
authors.lastname: van Geel
authors.forename: C
authors.initials: C
authors.lastname: Schrander-Stumpel
authors.forename: P M
authors.initials: PM
authors.lastname: Steijlen
authors.forename: J C J M
authors.initials: JC
authors.lastname: Veraart
mesh_terms: D002675:Child, Preschool; D019066:Facies; D005260:Female; D051858:Forkhead Transcription Factors / Q000235:genetics; D006345:Heart Septal Defects, Ventricular / Q000175:diagnosis*; D006609:High Mobility Group Proteins / Q000235:genetics; D006801:Humans; D015160:Hydrops Fetalis / Q000175:diagnosis; D008209:Lymphedema / Q000151:congenital* / Q000175:diagnosis* / Q000473:pathology; D010641:Phenotype; D055760:SOXF Transcription Factors; D013577:Syndrome; D014157:Transcription Factors / Q000235:genetics; D040321:Vascular Endothelial Growth Factor Receptor-3 / Q000235:genetics
chemical_list: D051858:Forkhead Transcription Factors; D006609:High Mobility Group Proteins; C095473:SOX18 protein, human; D055760:SOXF Transcription Factors; D014157:Transcription Factors; C082078:mesenchyme fork head 1 protein; D040321:Vascular Endothelial Growth Factor Receptor-3