We describe the phenotypic characteristics of 25 individuals with oculo-auriculo-vertebral spectrum (OAVS) a n d its variants, seen in Northern Ireland between 1969-1989, with special reference to cardiovascular defects. We report the type and prevalence of cardiovascular findings and also estimate
β¦ LIBER β¦
Congenital heart defects in patients with oculo-auriculo-vertebral spectrum (Goldenhar syndrome)
β Scribed by M. Cristina Digilio; Flaminia Calzolari; Rossella Capolino; Alessandra Toscano; Anna Sarkozy; Andrea de Zorzi; Bruno Dallapiccola; Bruno Marino
- Publisher
- John Wiley and Sons
- Year
- 2008
- Tongue
- English
- Weight
- 62 KB
- Volume
- 146A
- Category
- Article
- ISSN
- 1552-4825
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## Abstract Congenital heart defects (CHDs) have been estimated to occur in βΌ20% of patients with Brachmannβde Lange syndrome (BDLS, also known as Cornelia de Lange syndrome, OMIM 122470). We report on the results of a prospective echocardiographic evaluation of a cohort of 87 Italian BDLS patients