Browsing by Author "Restrepo Gaviria, Deisy Lorena"
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Item Síndrome de Williams Beuren en lactante mayor con retraso pondoestatural sin presencia de cardiopatía congénita: reporte de caso(Universidad Santiago de Cali, 2023) Bahena Marín, Valentina; Campo Gallego, Vanessa; Restrepo Gaviria, Deisy Lorena; Kanan Mohamed, Ahmad Talat (Director)Williams Syndrome (WS) is a rare neurodevelopmental genetic disorder (incidence 1/10,000) characterized by growth and intellectual delay, congenital heart disease, and distinctive facial features. This case report describes the early diagnosis of WS in a toddler, despite the absence of the typical congenital heart disease, confirmed by genetic and imaging tests. Key phenotypic features leading to diagnostic suspicion included epicanthal folds, a broad nasal bridge, thick lips, and bitemporal narrowing, with the patient's marked weight/height and psychomotor delay being particularly prominent. The report aims to increase the visibility of WS and promote early recognition of its clinical features for comprehensive and improved management of this rare disease.