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This syndrome was first observed in a three-generation family with seven affected members. It is an extremely rare heart-hand syndrome characterized by several cardiovascular anomalies including patent arterial duct (PDA), a bicuspid aortic valve, and a pseudocoarctation of the aorta, as well as brachydactyly and hypoplasia of the fifth metacarpal. It has been confirmed that this syndrome is distinct from an allelic variant of Char syndrome (Gelb et al. 1999).

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Patent Ductus Arteriosus and Bicuspid Aortic Valve with Hand Anomalies

  • 动态工具书词条

  • 发表日期：

    2025年

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  • Mohammad Sadeq Najafi

摘要

This syndrome was first observed in a three-generation family with seven affected members. It is an extremely rare heart-hand syndrome characterized by several cardiovascular anomalies including patent arterial duct (PDA), a bicuspid aortic valve, and a pseudocoarctation of the aorta, as well as brachydactyly and hypoplasia of the fifth metacarpal. It has been confirmed that this syndrome is distinct from an allelic variant of Char syndrome (Gelb et al. 1999).