Prevalence, prenatal diagnosis and clinical features of oculo-auriculo-vertebral spectrum: a registry-based study in Europe.

doi:10.1038/ejhg.2013.287

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Article

Prevalence, prenatal diagnosis and clinical features of oculo-auriculo-vertebral spectrum: a registry-based study in Europe.

European journal of human genetics : EJHG - 1 Aug 2014

Barisic Ingeborg, Odak Ljubica, Loane Maria, Garne Ester, Wellesley Diana, Calzolari Elisa, Dolk Helen, Addor Marie-Claude, Arriola Larraitz, Bergman Jorieke, Bianca Sebastiano, Doray Berenice, Khoshnood Babak, Klungsoyr Kari, McDonnell Bob, Pierini Anna, Rankin Judith, Rissmann Anke, Rounding Catherine, Queisser-Luft Annette, Scarano Gioacchino, Tucker David

Abstract excerpt

Oculo-auriculo-vertebral spectrum is a complex developmental disorder characterised mainly by anomalies of the ear, hemifacial microsomia, epibulbar dermoids and vertebral anomalies. The aetiology is largely unknown, and the epidemiological data are limited and inconsistent. We present the largest population-based epidemiological study to date, using data provided by the large network of congenital anomalies...

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PMID: 24398798
DOI: 10.1038/ejhg.2013.287
PMCID: PMC4350601

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