title: Primary lymphedema with coarctation of the aorta: possible new syndrome or variant of Irons-Bianchi syndrome?
abstract: 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.
authors.affiliation: Department of Dermatology, St George's Healthcare NHS Trust, London, UK. John.Ferguson@gmail.com
authors.forename: John S
authors.initials: JS
authors.lastname: Ferguson
authors.forename: Shymalar
authors.initials: S
authors.lastname: Gunatheesan
authors.forename: Glen
authors.initials: G
authors.lastname: Brice
authors.forename: Rob
authors.initials: R
authors.lastname: Hastings
authors.forename: Ruth
authors.initials: R
authors.lastname: Newbury-Ecob
authors.forename: Peter S
authors.initials: PS
authors.lastname: Mortimer
authors.forename: Sahar
authors.initials: S
authors.lastname: Mansour
mesh_terms: D001017:Aortic Coarctation / Q000175:diagnosis / Q000473:pathology*; D002648:Child; D002675:Child, Preschool; D002872:Chromosome Deletion; D002884:Chromosomes, Human, Pair 15 / Q000235:genetics; D002895:Chromosomes, Human, Pair 5 / Q000235:genetics; D056915:DNA Copy Number Variations; D005260:Female; D005820:Genetic Testing; D006801:Humans; D007231:Infant, Newborn; D007859:Learning Disabilities / Q000235:genetics; D008209:Lymphedema / Q000151:congenital* / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D061305:Lymphoscintigraphy; D008297:Male; D009634:Noonan Syndrome / Q000235:genetics