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In 1985, Goldstein et al. reported a new syndrome presented in a German-Irish family (a 52-year-old mother and her four children, two girls and two boys) for the first time. Distichiasis with congenital anomalies of the heart and peripheral vasculature syndrome is characterized by distichiasis, congenital heart defects, and mixed peripheral vascular abnormalities (Goldstein et al. 1985). The prevalence of this very rare genetic syndrome is unknown. So far, in medical literature, only five cases have been reported. Symptoms of this syndrome may appear at any age of life (Goldstein et al. 1985; Orphanet 2024).

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Distichiasis with Congenital Anomalies of the Heart and Peripheral Vasculature

  • 动态工具书词条

  • 发表日期：

    2025年

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  • Asmae Akbari

摘要

In 1985, Goldstein et al. reported a new syndrome presented in a German-Irish family (a 52-year-old mother and her four children, two girls and two boys) for the first time. Distichiasis with congenital anomalies of the heart and peripheral vasculature syndrome is characterized by distichiasis, congenital heart defects, and mixed peripheral vascular abnormalities (Goldstein et al. 1985). The prevalence of this very rare genetic syndrome is unknown. So far, in medical literature, only five cases have been reported. Symptoms of this syndrome may appear at any age of life (Goldstein et al. 1985; Orphanet 2024).