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

Author:

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

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Reference51 articles.

1. Goldenhar M : Associations malformatives de l’oeil et de l’oreille, en particulier le syndrome dermoïde epibulbaire-appendices auriculaires-fistula auris congenita et ses relations avec la dysostose mandibulo-faciale. J Genet Hum 1952; 1: 243–282.

2. Grabb WC : The first and second brachial arch syndromes. Plast Reconstr Surg 1965; 36: 485–508.

3. Hennekam RC, Krantz ID, Allanson JE : Gorlin's Syndromes of the Head and Neck. Oxford: Oxford University Press, 2010.

4. Rollnick BR, Kaye CI, Nagatoshi K, Hauck W, Martin AO : Oculoauriculovertebral dysplasia and variants: phenotypic characteristics of 294 patients. Am J Med Genet 1987; 26: 361–375.

5. Tasse C, Böhringer S, Fischer S et al: Oculo-auriculo-vertebral spectrum (OAVS): clinical evaluation and severity scoring of 53 patients and proposal for a new classification. Eur J Med Genet 2005; 48: 397–411.

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