Int J Pediatr Otorhinolaryngol 2015 Nov 8;79(11):1886-91. Epub 2015 Sep 8.
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:
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.