title: Arterial hypertension in a child with Williams-Beuren syndrome (7q11.23 chromosomal deletion).
abstract: We report the case of a 7-year-old male child diagnosed with Williams-Beuren syndrome and arterial hypertension refractory to clinical treatment. The diagnosis was confirmed by genetic study. Narrowing of the descending aorta and stenosis of the renal arteries were also diagnosed. Systemic vascular alterations caused by deletion of the elastin gene may occur early in individuals with Williams-Beuren syndrome, leading to the clinical manifestation of systemic arterial hypertension refractory to drug treatment.
authors.affiliation: Instituto do Carcao do Hospital das Clinical, Sao Paulo, Brazil. crsylos@netpoint .com.br
authors.forename: Cristina de
authors.initials: Cd
authors.lastname: Sylos
authors.forename: Alexandre C
authors.initials: AC
authors.lastname: Pereira
authors.forename: Estela
authors.initials: E
authors.lastname: Azeka
authors.forename: Nana
authors.initials: N
authors.lastname: Miura
authors.forename: Sônia Maria Ferreira
authors.initials: SM
authors.lastname: Mesquita
authors.forename: Munir
authors.initials: M
authors.lastname: Ebaid
mesh_terms: D001013:Aorta, Thoracic / Q000002:abnormalities*; D006328:Cardiac Catheterization; D002648:Child; D002872:Chromosome Deletion; D002897:Chromosomes, Human, Pair 7; D006801:Humans; D006973:Hypertension / Q000188:drug therapy / Q000235:genetics*; D008297:Male; D012078:Renal Artery Obstruction / Q000150:complications* / Q000175:diagnosis; D018980:Williams Syndrome / Q000150:complications* / Q000235:genetics / Q000503:physiopathology