title: Clinical features of 149 patients with facio-auriculo-vertebral spectrum.
abstract: Facio-Auriculo-Vertebral (FAV) spectrum, also known as Goldenhar syndrome or first and second branchial arch syndrome, is a complex of mainly craniofacial and vertebral anomalies. Microtia is a principal malformation in this complex; it can be unilateral or bilateral. We performed an observational, retrospective, transverse descriptive clinical study, reviewing 149 records of patients with a diagnosis of microtia treated in the Genetics Department. There was no significant difference in the sex of the individuals involved. The mean age was 6.97 years, with a range of 1 to 52 years. We founded positive inbreeding in 14 patients and consanguinity in 1 case. There was a family history of microtia in 37 cases. The most frequent malformations, besides microtia, were facial, costo-vertebral, limb, cardiac, genital, eye and other defects. Patients had a high percentage of family history, which could suggest an autosomal dominant inheritance with reduced penetrance.
authors.affiliation: Servicio de Genética, Asociación Leonesa de Distrofia Muscular S.A. León, Guanajuato, México.
authors.forename: Liliana A
authors.initials: LA
authors.lastname: Muñoz-Pedroza
authors.forename: María L
authors.initials: ML
authors.lastname: Arenas-Sordo
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D003430:Cross-Sectional Studies; D005260:Female; D006053:Goldenhar Syndrome / Q000175:diagnosis*; D006801:Humans; D007223:Infant; D008297:Male; D008875:Middle Aged; D012189:Retrospective Studies; D055815:Young Adult
keywords: Espectro facio-aurículo-vertebral; Facio-auriculo-vertebral sequence; Goldenhar; Goldenhar syndrome; Hemifacial microsomia; Microsomía hemifacial; Microtia