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Medicina & Laboratorio

2021, Number 3

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Medicina & Laboratorio 2021; 25 (3)

Williams-Beuren syndrome with isolated pulmonary stenosis: first case report in Cauca, Colombia

Realpe-Cisneros SI, Realpe-Cisneros LG, Caicedo-Rodríguez MI, Acosta-Aragón MA

Language: Spanish
References: 17
Page: 649-456
PDF size: 285.99 Kb.


ABSTRACT

Williams Beuren syndrome is a rare congenital disease caused by microdeletion of chromosome 7, which occurs mainly due to a de novo mutation, and less frequently due to an autosomal dominant inheritance. It is characterized by typical multisystemic manifestations, including “elfin-like” facial features, growth retardation and neurological alterations, such as mental retardation and hypersocial behavior. About 80% of patients present structural cardiovascular anomalies related to arterial stenosis. The aim of this report is to present the first case of Wil- liams-Beuren syndrome in the department of Cauca, of a 24-month-old patient who attended at the Clinical Genetics service at the San José de Popayán University Hospital, in whom clinical diagnosis was confirmed by molecular analysis.


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