Abstract for presentation at 11th International Congress of Human Genetics

Characterization of Proteus Syndrome Associated with Atrial Septal Defect in a Thai Male Adolescent with Disproportionate Overgrowth Disorder

  • A/Prof Thanyachai Sura, Division of Medical Genetics and Molecular Medicine, Department of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand
  • Dr Objoon Trachoo, Division of Medical Genetics and Molecular Medicine, Department of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand
  • Dr Supischa Theerasasawat, Division of Medical Genetics and Molecular Medicine, Department of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand
  • Mrs Kanoknan Srichan, Division of Medical Genetics and Molecular Medicine, Department of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand
  • Dr Siripen Puavilai, Division of Dermatology, Department of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand
  • Dr Sukit Yamwong, Division of Cardiology, Department of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand
  • Dr Ake Hansasuta, Division of Neurosurgery, Department of Surgery, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand
  • Dr Vichai Srimuninnimit, Division of Plastic and Maxillofacial Surgery, Department of Surgery, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand

    • We report on a 17-year-old Thai adolescent from Bangkok suspected of an overgrowth syndrome with multiple malformations without significant family history of birth defect. His clinical manifestations were characterized by connective tissue nevi, epidermal nevi, disproportionate overgrowth of right limbs, skull hyperostoses, lipoma, severe varicose veins and specific facial phenotype; therefore, Proteus Syndrome was diagnosed by clinical criteria recommended by the First National Conference on Proteus Syndrome in Bethasda, Maryland, 1998. Further clinical evaluation was performed by abdominal ultrasonography, splenomegaly and abnormal intra-abdominal fat distribution were identified. Atrial Septal Defect was demonstrated by transthoracic echocardiography since abnormal heart sound was detected. To the best of our knowledge, there are no reports of such kind of cardiac involvement in this particular syndrome. However, it would be recognized by the physicians to consider cardiovascular investigation in order to offer early proper cardiac consultation. On the other hand, ongoing genetic management would be done by counseling, referring to support group and monitoring of predicted complications such as pulmonary embolism and malignancies.

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