title: [Clinico-epidemiologic study of microtia].
abstract: Microtia is a congenital malformation characterized by total or partial absence of the whole auricle or any of its components, varying from a small auricle to the total absence (anotia). There may be associated atresia of the external auditory meatus. The frequency varies in different parts of the world between 0.4 and 5.5/10,000 newborns. In this paper we report the clinical and epidemiological characterization of this congenital malformation in a sample of 97.759 neonates born at the Ruíz y Páez Hospital in Ciudad Bolivar, Venezuela, between April 1978 and December 1994. A total of 38 patients with microtia were identified. The global frequency was 3.8 per 10,000/newborns. In 47.4% of the patients microtia was an isolated malformation and in 52.6% was associated to other malformations. Sixty three percent of the affected were males. The unilateral form was present in 81.5% of the cases, more frequently on the right side. The annual frequency of the defect was stable over the studied years. The clinical classification of the cases with associated malformations allowed us to establish that 18.4% of the cases correspond to developmental fields defects, associated to preauricular dimples and/or tags, 7.8% were cases of the facio-auriculo-vertebral spectrum and in 15.7% the microtia was part of a monogenic or chromosomal syndrome. In 10.5% it was not possible to define any etiological or pathogenic mechanism. The frequency obtained in this study for microtia shows intermediate values when compared with others reports from Latin America.
authors.affiliation: Unidad de Genética Médica, Escuela de Medicina, Universidad de Oriente, Ciudad Bolívar, Venezuela.
authors.forename: O
authors.initials: O
authors.lastname: Sánchez
authors.forename: J R
authors.initials: JR
authors.lastname: Méndez
authors.forename: E
authors.initials: E
authors.lastname: Gómez
authors.forename: D
authors.initials: D
authors.lastname: Guerra
mesh_terms: D000015:Abnormalities, Multiple / Q000453:epidemiology / Q000235:genetics; D002869:Chromosome Aberrations / Q000453:epidemiology / Q000235:genetics; D025063:Chromosome Disorders; D000013:Congenital Abnormalities / Q000453:epidemiology / Q000235:genetics; D004431:Ear, External / Q000002:abnormalities*; D005260:Female; D006801:Humans; D015994:Incidence; D007231:Infant, Newborn; D007843:Latin America / Q000453:epidemiology; D008297:Male; D018811:Maternal Exposure; D012307:Risk Factors; D013577:Syndrome; D014687:Venezuela / Q000453:epidemiology
vernacular_title: Estudio clínico epidemiológico de la microtia.