title: Portal hypertension in Williams syndrome: report of two patients.
abstract: Williams or Williams-Beuren syndrome (WBS) is a developmental disorder with multisystemic manifestations characterized by distinctive facial features, mental disability with unique cognitive and personality profiles, vascular stenoses, growth retardation, and occasional infantile hypercalcemia, caused by haploinsufficiency for genes deleted in chromosome band 7q11.23. However, with the exception of arterial stenoses caused by haploinsufficiency for the elastin gene (ELN), no specific implication of any other gene in the phenotype has been established. We present two patients with portal hypertension leading to splenomegaly and pancytopenia carrying the common 1.5 Mb WBS deletion. We propose this is an additional severe vascular complication of ELN deficiency and discuss the specific characteristics of the portal venous tract that could explain the impact of ELN deficiency in that venous territory. This complication is potentially lethal and should thus be considered in any patient with WBS and splenomegaly.
authors.affiliation: Genetics Unit, Department of Experimental Sciences, Universitat Pompeu Fabra, Barcelona, Spain. miguel.delcampo@cexs.upf.es
authors.forename: Miguel Del Campo
authors.initials: Mdel C
authors.lastname: Casanelles
authors.forename: Juan José
authors.initials: JJ
authors.lastname: Gil-Fernández
authors.forename: Luis F Magano
authors.initials: LF
authors.lastname: Casero
authors.forename: Manuel García
authors.initials: MG
authors.lastname: Bengoechea
authors.forename: Rosario
authors.initials: R
authors.lastname: Serrano
authors.forename: José María Fernández
authors.initials: JM
authors.lastname: Rañada
authors.forename: Luis Alberto Pérez
authors.initials: LA
authors.lastname: Jurado
mesh_terms: D000328:Adult; D002874:Chromosome Mapping; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics*; D017353:Gene Deletion; D006801:Humans; D006975:Hypertension, Portal / Q000150:complications / Q000235:genetics*; D008297:Male; D010198:Pancytopenia / Q000150:complications; D011860:Radiography, Abdominal; D013163:Splenomegaly / Q000150:complications; D014057:Tomography, X-Ray Computed; D018980:Williams Syndrome / Q000150:complications / Q000235:genetics*