title: Hereditary hemorrhagic telangiectasia and juvenile polyposis: an overlap of syndromes.
abstract: Hereditary hemorrhagic telangiectasia (HHT) (Osler-Weber-Rendu syndrome) is a syndrome characterized by multiorgan telangiectases and arteriovenous malformations. A subset of patients with a mutation in the MADH4 gene on chromosome 18 exhibits an overlapping syndrome of HHT and juvenile polyposis (JPS). We present one such family. Genetic testing is warranted when either HHT or JPS is diagnosed, as early recognition of this syndrome overlap allows appropriate management of these patients.
authors.affiliation: Department of Radiology, Montefiore Medical Center, 111 E. 210th St., Bronx, NY 10467, USA. eweinber@montefiore.org
authors.forename: Erica D
authors.initials: ED
authors.lastname: Poletto
authors.forename: Angela M
authors.initials: AM
authors.lastname: Trinh
authors.forename: Terry L
authors.initials: TL
authors.lastname: Levin
authors.forename: Kalliope
authors.initials: K
authors.lastname: Tsirilakis
authors.forename: Anthony M
authors.initials: AM
authors.lastname: Loizides
mesh_terms: D011125:Adenomatous Polyposis Coli / Q000000981:diagnostic imaging* / Q000235:genetics*; D002648:Child; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D008297:Male; D013577:Syndrome; D013683:Telangiectasia, Hereditary Hemorrhagic / Q000000981:diagnostic imaging* / Q000235:genetics*; D014057:Tomography, X-Ray Computed