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Severe complications and gastric carcinoma in Mulvihill-Smith syndrome
  1. OLIVER BARTSCH
  1. Institut für Klinische Genetik, Universitätsklinikum Carl Gustav Carus, Technische Universität, Fetscherstrasse 74, 01307 Dresden, Germany
  2. Klinik für Innere Medizin and Institut für Humangenetik, Medizinische Universität, 23538 Lübeck, Germany
  3. Städtische Kinderklinik, 81545 München-Harlaching, Germany
    1. DIETHER LUDWIG,
    2. EBERHARD SCHWINGER
    1. Institut für Klinische Genetik, Universitätsklinikum Carl Gustav Carus, Technische Universität, Fetscherstrasse 74, 01307 Dresden, Germany
    2. Klinik für Innere Medizin and Institut für Humangenetik, Medizinische Universität, 23538 Lübeck, Germany
    3. Städtische Kinderklinik, 81545 München-Harlaching, Germany
      1. KLAUS-DIETER TYMPNER
      1. Institut für Klinische Genetik, Universitätsklinikum Carl Gustav Carus, Technische Universität, Fetscherstrasse 74, 01307 Dresden, Germany
      2. Klinik für Innere Medizin and Institut für Humangenetik, Medizinische Universität, 23538 Lübeck, Germany
      3. Städtische Kinderklinik, 81545 München-Harlaching, Germany

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        Editor—Little is still known about the long term outcome of the rare, progeria-like disorder of Mulvihill-Smith syndrome (McKusick 176690). In 1994 we described the clinical progress of a patient (fig 1) up to the age of 20 years.1 The patient had facioskeletal and dental abnormalities, severe viral infections, allergic rhinitis and conjunctivitis, visual loss, delayed puberty, modest achievement at school, and reactive depression. We now report the clinical course until his death.

        Figure 1

        Facial view of the patient aged 21 years.

        He attended office clerk training for physically handicapped people but had coordination …

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