title: Oculo-auriculo-vertebral spectrum: a review of the literature and genetic update.
abstract: Oculo-auriculo-vertebral spectrum (OAVS, OMIM 164 210) is a developmental disorder primarily involving structures derived from the first and second pharyngeal arches during embryogenesis. The phenotype is clinically heterogeneous and is typically characterised by abnormal development of the ear, mandible anomalies and defects of the vertebral column. OAVS may occur as a multiple congenital abnormality, and associated findings include anomalies of the eye, brain, heart, kidneys and other organs and systems. Both genetic and environmental factors are thought to contribute to this craniofacial condition, however, the mechanisms are still poorly understood. Here, we present a review of the literature on OAVS, discussing what is known about the aetiology, candidate loci, possible mechanisms and the range of clinical features that characterise this condition. We also comment on some important aspects of recurrence risk counselling to aid clinical management.
authors.affiliation: Serviço de Genética, Departamento Pediátrico, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal Center for Human Genetics, Cliniques Universitaires St Luc, Université Catholique de Louvain, Brussels, Belgium Faculty of Medical and Human Sciences, Manchester Centre for Genomic Medicine, Institute of Human Development, University of Manchester, Manchester, UK.
authors.forename: Ana
authors.initials: A
authors.lastname: Beleza-Meireles
authors.affiliation: Faculty of Medical and Human Sciences, Manchester Centre for Genomic Medicine, Institute of Human Development, University of Manchester, Manchester, UK Central Manchester University Hospitals NHS Foundation Trust as part of Manchester Academic Health Science Centre (MAHSC), Manchester, UK.
authors.forename: Jill
authors.initials: J
authors.lastname: Clayton-Smith
authors.affiliation: Serviço de Genética, Departamento Pediátrico, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal.
authors.forename: Jorge M
authors.initials: JM
authors.lastname: Saraiva
authors.affiliation: Faculty of Medical and Human Sciences, Manchester Centre for Genomic Medicine, Institute of Human Development, University of Manchester, Manchester, UK Central Manchester University Hospitals NHS Foundation Trust as part of Manchester Academic Health Science Centre (MAHSC), Manchester, UK.
authors.forename: May
authors.initials: M
authors.lastname: Tassabehji
mesh_terms: D002869:Chromosome Aberrations; D005260:Female; D006053:Goldenhar Syndrome / Q000235:genetics / Q000473:pathology; D006801:Humans; D008297:Male; D010641:Phenotype
keywords: Clinical genetics; Developmental; Genetics; Microarray; Molecular genetics