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A Case of William’s Syndrome in a Ugandan Child

A Feasible Diagnosis Even in a Low-Resource Setting

Bibliographic Data

ID15716845
AuthorsMassimo Mapelli (0000-0001-9985-7407, University of Milan, corresponding author), Paola Zagni (Azienda Ospedaliera Fatebenefratelli e Oftalmico), Valeria Calbi (0000-0003-3514-666X, Vita-Salute San Raffaele University), Aliku Twalib (Mulago Hospital), Roberto Ferrara (0000-0002-1991-3286, Fondazione IRCCS Istituto Nazionale dei Tumori), Piergiuseppe Agostoni (0000-0002-8345-6382, University of Milan)
Year2021
Volume8
Issue12
Pages1192-1192
Publication date2021-12-16
Open AccessYes
TypeARTICLE
VenueChildren (JOURNAL)
Journal identifiersISSN: 2227-9067 • E-ISSN: 2227-9067
PublisherMultidisciplinary Digital Publishing Institute (PUBLISHER • CH)
DOI10.3390/children8121192
PMID34943388
OpenAlexW4200032178
LanguageEN

We present the first reported case of WS in Uganda. Cardiac echo and a characteristic clinical picture could be enough to exclude more common causes of heart failure (i.e., rheumatic heart disease) and to make the diagnosis even when specific genetic tests are not available

Abnormality · Cardiology · Cognition · Psychiatry · Stenosis · Supravalvular aortic stenosis · Williams syndrome · Medicine · Williams Syndrome Research · Internal Medicine · Pediatrics

Highly citedNo

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