A Clinical Study of Beckwith-Wiedemann Syndrome

DOI Open Access
  • KATO Tomoki
    Division of Research and Treatment for Oral and Maxillofacial Congenital Anomalies, School of Dentistry, Aichi Gakuin University Division of Molecular Genetics & Epigenetics, Department of Biomolecular Sciences, Faculty of Medicine, Saga University
  • IMURA Hideto
    Division of Research and Treatment for Oral and Maxillofacial Congenital Anomalies, School of Dentistry, Aichi Gakuin University Division of Molecular Genetics & Epigenetics, Department of Biomolecular Sciences, Faculty of Medicine, Saga University
  • HIGASHIMOTO Ken
    Cleft Lip and Palate Center, Aichi Gakuin University Hospital
  • YAGI Hitomi
    Cleft Lip and Palate Center, Aichi Gakuin University Hospital
  • SHIBASAKI Tatsunori
    Division of Research and Treatment for Oral and Maxillofacial Congenital Anomalies, School of Dentistry, Aichi Gakuin University Division of Molecular Genetics & Epigenetics, Department of Biomolecular Sciences, Faculty of Medicine, Saga University
  • FURUKAWA Hiroo
    Division of Research and Treatment for Oral and Maxillofacial Congenital Anomalies, School of Dentistry, Aichi Gakuin University Division of Molecular Genetics & Epigenetics, Department of Biomolecular Sciences, Faculty of Medicine, Saga University
  • NIIMI Teruyuki
    Division of Research and Treatment for Oral and Maxillofacial Congenital Anomalies, School of Dentistry, Aichi Gakuin University Division of Molecular Genetics & Epigenetics, Department of Biomolecular Sciences, Faculty of Medicine, Saga University
  • FUJIWARA Kumiko
    Division of Research and Treatment for Oral and Maxillofacial Congenital Anomalies, School of Dentistry, Aichi Gakuin University Division of Molecular Genetics & Epigenetics, Department of Biomolecular Sciences, Faculty of Medicine, Saga University
  • SUZUKI Satoshi
    Division of Research and Treatment for Oral and Maxillofacial Congenital Anomalies, School of Dentistry, Aichi Gakuin University Division of Molecular Genetics & Epigenetics, Department of Biomolecular Sciences, Faculty of Medicine, Saga University
  • TOYAMA Yoshitaka
    Division of Research and Treatment for Oral and Maxillofacial Congenital Anomalies, School of Dentistry, Aichi Gakuin University Division of Molecular Genetics & Epigenetics, Department of Biomolecular Sciences, Faculty of Medicine, Saga University
  • MINAMI Katsuhiro
    Division of Research and Treatment for Oral and Maxillofacial Congenital Anomalies, School of Dentistry, Aichi Gakuin University Division of Molecular Genetics & Epigenetics, Department of Biomolecular Sciences, Faculty of Medicine, Saga University
  • INOUE Chisako
    Division of Molecular Genetics & Epigenetics, Department of Biomolecular Sciences, Faculty of Medicine, Saga University
  • HAYAKAWA Toko
    Division of Molecular Genetics & Epigenetics, Department of Biomolecular Sciences, Faculty of Medicine, Saga University
  • SOEJIMA Hidenobu
    Cleft Lip and Palate Center, Aichi Gakuin University Hospital
  • NATSUME Nagato
    Division of Research and Treatment for Oral and Maxillofacial Congenital Anomalies, School of Dentistry, Aichi Gakuin University Division of Molecular Genetics & Epigenetics, Department of Biomolecular Sciences, Faculty of Medicine, Saga University

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Other Title
  • Beckwith-Wiedemann症候群の臨床的研究
  • —Analysis of Imprinting Gene and Follow Up—
  • ―インプリント遺伝子解析と臨床経過を中心として―

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Abstract

Beckwith-Wiedemann Syndrome (BWS) is a common overgrowth syndrome that involves abdominal wall defects, macroglossia, and gigantism. BWS is caused by an imprinted gene within the chromosome 11p15.5 region. A patient was referred to our center for speech disorder and macroglossia. Speech training and conservative treatment were performed. An imprinted gene was analyzed in the BWS patient. We detected hypomethylation of KvDMR1 in this patient. We report on the imprinted gene and mechanism of BWS development.

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