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Oculo-auriculo-vertebral spectrum: A review of the literature and genetic update

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Beleza-Meireles, Ana [UCL] Clayton-Smith, Jill Saraiva, Jorge M. Tassabehji, May

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.

Document type Article de périodique (Journal article) – Article de recherche
Publication date 2014
Language Anglais
Journal information "Journal of Medical Genetics : an international peer-reviewed journal for health professionals and researchers in all areas of genetics" - Vol. 51, no. 10, p. 635-645 (2014)
Peer reviewed yes
Publisher B M J Group ((United Kingdom) London)
issn 0022-2593
e-issn 1468-6244
Publication status Publié
Affiliation UCL - (SLuc) Centre de génétique médicale UCL
Links
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Bibliographic reference Beleza-Meireles, Ana ; Clayton-Smith, Jill ; Saraiva, Jorge M. ; Tassabehji, May. Oculo-auriculo-vertebral spectrum: A review of the literature and genetic update. In: Journal of Medical Genetics : an international peer-reviewed journal for health professionals and researchers in all areas of genetics, Vol. 51, no. 10, p. 635-645 (2014)
Permanent URL http://hdl.handle.net/2078.1/164097