European Heart Journal Advance Access originally published online on March 22, 2006
European Heart Journal 2006 27(17):2045; doi:10.1093/eurheartj/ehi836
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© The European Society of Cardiology 2006. All rights reserved. For Permissions, please e-mail: journals.permissions@oxfordjournals.org
Cardiovascular findings in arterial tortuosity syndrome
1 Division of Pediatric Cardiology, University Children's Hospital Zurich, Steinwiesstr. 75, CH-8032 Zurich, Switzerland
2 Division of Metabolic and Molecular Diseases, University Children's Hospital Zurich, Switzerland
* Corresponding author. Tel: +41 44 266 7382; fax: +41 44 2667981. E-mail address: emanuela.valsangiacomo@kispi.unizh.ch
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A boy presented at birth with an axial diaphragmatic hernia, hyperelastic skin, hyperextensible joints, and arachnodactyly. During infancy, he developed bilateral inguinal herniae and generalized muscular hypotonia. Echocardiography showed an anomalous tortuous course