title: A family with autosomal dominant oculo-auriculo-vertebral spectrum.
abstract: Oculo-auriculo-vertebral spectrum (MIM 164210) is a term suggested by Gorlin to summarize the different phenotypic expressions of a continuum that has been known as hemifacial microsomia, Goldenhar syndrome, or first and second branchial arch anomalies. The different terms indicate the extremely variable clinical findings, including especially defects of aural, oral and mandibular development. Additionally, cardiac, renal, skeletal and other anomalies occur. The majority of oculo-auriculo-vertebral spectrum cases are sporadic; nevertheless, several families have been reported with proof of both autosomal dominant and autosomal recessive inheritance. We describe a family with transmission of oculo-auriculo-vertebral spectrum from a mother to her two daughters indicating an autosomal dominant mode of inheritance. Our literature review reveals that patients with autosomal dominant inheritance of oculo-auriculo-vertebral spectrum are more often bilaterally affected than patients with sporadic occurrence of oculo-auriculo-vertebral spectrum. In addition, hearing loss, absent or narrow external auditory canal, anomalies of the mouth and epibulbar dermoids seem to occur less frequently in patients with autosomal dominant oculo-auriculo-vertebral spectrum compared with sporadic oculo-auriculo-vertebral spectrum.
authors.affiliation: Institute of Human Genetics, University Clinic Essen, Essen Institute of Human Genetics and Anthropology, University of Düsseldorf, Düsseldorf Institute of Human Genetics, University Clinic Schleswig-Holstein, Campus Lübeck, Lübeck, Germany.
authors.forename: Christiane
authors.initials: C
authors.lastname: Tasse
authors.forename: Frank
authors.initials: F
authors.lastname: Majewski
authors.forename: Stefan
authors.initials: S
authors.lastname: Böhringer
authors.forename: Sven
authors.initials: S
authors.lastname: Fischer
authors.forename: Hermann-Josef
authors.initials: HJ
authors.lastname: Lüdecke
authors.forename: Gabriele
authors.initials: G
authors.lastname: Gillessen-Kaesbach
authors.forename: Dagmar
authors.initials: D
authors.lastname: Wieczorek
mesh_terms: D000328:Adult; D000368:Aged; D002648:Child; D002675:Child, Preschool; D004424:Ear Canal / Q000002:abnormalities* / Q000473:pathology; D005124:Eye Abnormalities / Q000235:genetics*; D005190:Family; D005260:Female; D005799:Genes, Dominant; D006053:Goldenhar Syndrome / Q000235:genetics* / Q000473:pathology; D006801:Humans; D008297:Male; D009056:Mouth Abnormalities / Q000235:genetics* / Q000473:pathology; D010375:Pedigree