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BWS (OMIM 130650) is an autosomal dominant disease, inherited with variable expression, characterized by somatic overgrowth and a predisposition to embryonal tumors. It was first described by Beckwith in 1963 and by Wiedemann in 1964 (Wiedemann, J Genet Hum. 13:223–32, 1964; Beckwith, Birth Def Orig Art Ser. V:188–96, 1969). The incidence is estimated to be 1 in 14,000 births, evenly distributed among boys and girls (Araujo et al. Radiol Bras. 46:379–81, 2014).

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Prenatal Diagnosis of Beckwith-Wiedemann Syndrome Using 3D Ultrasound and Fetal MRI

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  • 发表日期：

    2025年

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  • Heron Werner,
  • Gabriele Tonni

摘要

BWS (OMIM 130650) is an autosomal dominant disease, inherited with variable expression, characterized by somatic overgrowth and a predisposition to embryonal tumors. It was first described by Beckwith in 1963 and by Wiedemann in 1964 (Wiedemann, J Genet Hum. 13:223–32, 1964; Beckwith, Birth Def Orig Art Ser. V:188–96, 1969). The incidence is estimated to be 1 in 14,000 births, evenly distributed among boys and girls (Araujo et al. Radiol Bras. 46:379–81, 2014).