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 disease is a genetic disorder of neurological development, which includes different clinical manifestations such as growth and intellectual retardation, congenital heart disease and distinctive facial features, with an incidence of 1/10,000 live births in the world¹. Case report of an older infant, with a perinatal history of intrauterine growth retardation (IUGR), threatened preterm delivery and breech position, for which she required a cesarean section in a highly complex clinic with availability neonatal intensive care unit. In which said pathology was suspected, due to the presence of phenotypic characteristics such as epicanthal fold, wide nasal bridge, thick lips, bitemporal narrowing, being diagnosed with Williams syndrome, through genetic and imaging tests in which it is important to highlight that no one of the most frequent characteristics of this syndrome, which is congenital heart disease, the highlight in this case being its marked weight, height and psychomotor retardation. The objective of this report is to present the main clinical characteristics that guide the early diagnosis of Williams Syndrome, which belongs to the group of rare diseases. So that health personnel can provide comprehensive management and thus generate greater visibility of this disease in the scientific community.