Velocardiofacial syndrome in Mexican patients: Unusually high prevalence of congenital heart disease.

Autor:	Márquez-Ávila CS; Department of Audiology and Phoniatrics, Hospital Infantil de México Federico Gómez, Calle Dr. Márquez 162, Colonia Doctores, Delegación Cuauhtémoc, C.P. 06720, Mexico City, Mexico. Electronic address: candymarqueza@prodigy.net.mx., Vizcaíno-Alarcón A; Department of Cardiology, Hospital Infantil de México Federico Gómez, Calle Dr. Márquez 162, Colonia Doctores, Delegación Cuauhtémoc, C.P. 06720, Mexico City, Mexico. Electronic address: avizca34@hotmail.com., García-Delgado C; Department of Genetics, Hospital Infantil de México Federico Gómez, Calle Dr. Márquez 162, Colonia Doctores, Delegación Cuauhtémoc, C.P. 06720, Mexico City, Mexico. Electronic address: constanzagarciadelgado@yahoo.com., Núñez-Martínez PM; Department of Genetics, Hospital Infantil de México Federico Gómez, Calle Dr. Márquez 162, Colonia Doctores, Delegación Cuauhtémoc, C.P. 06720, Mexico City, Mexico. Electronic address: pau_nunez@hotmail.com., Flores-Ramírez F; Department of Genetics, Hospital Infantil de México Federico Gómez, Calle Dr. Márquez 162, Colonia Doctores, Delegación Cuauhtémoc, C.P. 06720, Mexico City, Mexico. Electronic address: franciscofloresramirez49@gmail.com., Reyes-de la Rosa Adel P; Department of Genetics, Hospital Infantil de México Federico Gómez, Calle Dr. Márquez 162, Colonia Doctores, Delegación Cuauhtémoc, C.P. 06720, Mexico City, Mexico. Electronic address: areyesdelarosa@gmail.com., Mendelsberg-Fishbein P; Department of Genetics, Hospital Infantil de México Federico Gómez, Calle Dr. Márquez 162, Colonia Doctores, Delegación Cuauhtémoc, C.P. 06720, Mexico City, Mexico. Electronic address: paola_m84@yahoo.com., Ibarra-Grajeda D; Department of Audiology and Phoniatrics, Hospital Infantil de México Federico Gómez, Calle Dr. Márquez 162, Colonia Doctores, Delegación Cuauhtémoc, C.P. 06720, Mexico City, Mexico. Electronic address: dig79@hotmail.com., Medina-Bravo P; Department of Endocrinology, Hospital Infantil de México Federico Gómez, Calle Dr. Márquez 162, Colonia Doctores, Delegación Cuauhtémoc, C.P. 06720, Mexico City, Mexico. Electronic address: drapatty_75@hotmail.com., Balderrábano-Saucedo N; Department of Cardiology, Hospital Infantil de México Federico Gómez, Calle Dr. Márquez 162, Colonia Doctores, Delegación Cuauhtémoc, C.P. 06720, Mexico City, Mexico. Electronic address: balderrabano_6@yahoo.es., Esteva-Solsona S; Department of Endocrinology, Hospital Infantil de México Federico Gómez, Calle Dr. Márquez 162, Colonia Doctores, Delegación Cuauhtémoc, C.P. 06720, Mexico City, Mexico. Electronic address: esteva.endocrino@yahoo.com., Márquez-Quiróz Ldel C; Department of Genetics, Hospital Infantil de México Federico Gómez, Calle Dr. Márquez 162, Colonia Doctores, Delegación Cuauhtémoc, C.P. 06720, Mexico City, Mexico. Electronic address: marquezquiroz@yahoo.com.mx., Flores-Cuevas A; Department of Genetics, Hospital Infantil de México Federico Gómez, Calle Dr. Márquez 162, Colonia Doctores, Delegación Cuauhtémoc, C.P. 06720, Mexico City, Mexico. Electronic address: arturocuevas_14@yahoo.com., Sánchez-Urbina R; Department of Genetics, Hospital Infantil de México Federico Gómez, Calle Dr. Márquez 162, Colonia Doctores, Delegación Cuauhtémoc, C.P. 06720, Mexico City, Mexico. Electronic address: rs_urbina@yahoo.com.mx., Morales-Jiménez AB; Department of Genetics, Hospital Infantil de México Federico Gómez, Calle Dr. Márquez 162, Colonia Doctores, Delegación Cuauhtémoc, C.P. 06720, Mexico City, Mexico. Electronic address: ariadnamorales@ciencias.unam.mx., Garibay-Nieto N; Department of Endocrinology, Hospital Infantil de México Federico Gómez, Calle Dr. Márquez 162, Colonia Doctores, Delegación Cuauhtémoc, C.P. 06720, Mexico City, Mexico. Electronic address: gngaribay@hotmail.com., Del Bosque-Garza J; Department of Psychiatrics, Hospital Infantil de México Federico Gómez, Calle Dr. Márquez 162, Colonia Doctores, Delegación Cuauhtémoc, C.P. 06720, Mexico City, Mexico. Electronic address: drjesusdelbosque@gmail.com., Pietropaolo-Cienfuegos D; Department of Allergy and Inmunology, Hospital Infantil de México Federico Gómez, Calle Dr. Márquez 162, Colonia Doctores, Delegación Cuauhtémoc, C.P. 06720, Mexico City, Mexico. Electronic address: dpietro4@hotmail.com., Gutiérrez-Camacho C; Department of Education, Hospital Infantil de México Federico Gómez, Calle Dr. Márquez 162, Colonia Doctores, Delegación Cuauhtémoc, C.P. 06720, Mexico City, Mexico. Electronic address: claudia.g.cam@gmail.com., García-Morales L; Department of Endocrinology, Hospital Infantil de México Federico Gómez, Calle Dr. Márquez 162, Colonia Doctores, Delegación Cuauhtémoc, C.P. 06720, Mexico City, Mexico. Electronic address: letygarcia17@yahoo.com.mx., Morán-Barroso VF; Department of Genetics, Hospital Infantil de México Federico Gómez, Calle Dr. Márquez 162, Colonia Doctores, Delegación Cuauhtémoc, C.P. 06720, Mexico City, Mexico. Electronic address: vfmoran@himfg.edu.mx.
Jazyk:	angličtina
Zdroj:	International journal of pediatric otorhinolaryngology [Int J Pediatr Otorhinolaryngol] 2015 Nov; Vol. 79 (11), pp. 1886-91. Date of Electronic Publication: 2015 Sep 08.
DOI:	10.1016/j.ijporl.2015.08.038
Abstrakt:	Introduction: Velocardiofacial syndrome (VCFS) is the most common microdeletion syndrome with an incidence of 1:4000 live births. Its phenotype is highly variable with facial, velopharyngeal, cardiac, endocrine, immunologic and psychiatric abnormalities. It is caused by a microdeletion in chromosome 22q11.2. 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. (Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.)
Databáze:	MEDLINE
Externí odkaz:	Zobrazit plný text záznamu Full Text from ScienceDirect