title: Oculoauriculovertebral spectrum: report of nine familial cases with evidence of autosomal dominant inheritance and review of the literature.
abstract: Oculoauriculovertebral spectrum (OAVS; OMIM 164210) is a complex condition characterized by defects of aural, oral, mandibular and vertebral development. The aetiology of this condition is likely to be heterogeneous; most cases are sporadic, however, familial cases suggesting autosomal recessive and autosomal dominant inheritance have been reported. In this study, we describe the clinical aspects of nine familial cases with evidence of autosomal dominant inheritance and compare them with reports in the literature. Interfamilial and intrafamilial clinical variabilities were observed in this study (reinforcing the necessity of careful examination of familial members). We suggest that oculoauriculovertebral spectrum with autosomal dominant inheritance is characterized mainly by bilateral auricular involvement and rarely presents extracranial anomalies.
authors.affiliation: Department of Clinical Genetics, Hospital de Reabilitação de Anomalias Craniofaciais, Universidade de São Paulo, Bauru, Sao Paulo, Brazil.
authors.forename: Siulan
authors.initials: S
authors.lastname: Vendramini-Pittoli
authors.forename: Nancy Mizue
authors.initials: NM
authors.lastname: Kokitsu-Nakata
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics*; D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D005190:Family; D005260:Female; D005799:Genes, Dominant; D006053:Goldenhar Syndrome / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male