Velocardiofacial syndrome in Mexican patients: Unusually high prevalence of congenital heart disease.
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История · было → стало
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Márquez-Ávila Candy Sue, Vizcaíno-Alarcón Alfredo, García-Delgado Constanza, Núñez-Martínez Paulina María, Flores-Ramírez Francisco, Reyes-de la Rosa Alejandra del Pilar, Mendelsberg-Fishbein Paola, Ibarra-Grajeda Diana, Medina-Bravo Patricia, Balderrábano-Saucedo Norma, Esteva-Solsona Salvador, Márquez-Quiróz Luz del Carmen, Flores-Cuevas Arturo, Sánchez-Urbina Rocío, Morales-Jiménez Ariadna Berenice, Garibay-Nieto Nayely, Del Bosque-Garza Jesús, Pietropaolo-Cienfuegos Dino, Gutiérrez-Camacho Claudia, García-Morales Leticia, Morán-Barroso Verónica Fabiola
Аннотация
OBJECTIVES: We present 7 years of experience evaluating patients with VCFS regarding their main clinical characteristics.
MATERIAL AND METHODS: The patients included were multidisciplinary evaluated and had a positive FISH analysis for del22q11.2.
RESULTS: A total of 62 patients were assessed, a 34 female/28 male ratio was observed with ages ranging from 9 days to 16 years, all but one patient had typical facial features. A diagnosis of congenital heart disease was established in 97% of the patients; other clinical characteristics were identified with different percentages such as cleft palate, and hypocalcaemia. Three cases had a familial presentation.
DISCUSSION: While the clinical findings of this study were in general terms in keeping with the literature, it is interesting the unexpectedly high percentage of congenital heart disease identified in Mexican children with VCFS that also was the main cause for clinical referral.