Chronic intestinal pseudo-obstruction syndrome and gastrointestinal malrotation in an infantwith schaaf-yang syndrome - Expanding the phenotypic spectrum

Allan Bayat, Michael Bayat, Ricardo Lozoya, Christian P Schaaf

    Publikation: Bidrag til tidsskriftArtikelForskningpeer review

    Abstract

    We report a novel patient with the phenotypic characteristics of Schaaf-Yang syndrome. In addition, the patient has a severe chronic digestive malfunction, rendering him dependent on intermittent enteral supplementation. To our knowledge, this is the first report of Schaaf-Yang syndrome associated with severe chronic digestive malfunction manifesting with both a malrotation and signs of a chronic intestinal pseudo-obstruction.

    OriginalsprogEngelsk
    Sider (fra-til)627-630
    Antal sider4
    TidsskriftEuropean Journal of Medical Genetics
    Vol/bind61
    Udgave nummer10
    DOI
    StatusUdgivet - okt. 2018

    Fingeraftryk

    Udforsk hvilke forskningsemner 'Chronic intestinal pseudo-obstruction syndrome and gastrointestinal malrotation in an infantwith schaaf-yang syndrome - Expanding the phenotypic spectrum' indeholder.

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