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    ARTICLE

    Pulmonary vein stenosis in patients with Smith-Lemli-Opitz syndrome

    Aaron R. Prosnitz1, Jane Leopold2, Mira Irons3, Kathy Jenkins1, Amy E. Roberts1

    Congenital Heart Disease, Vol.12, No.4, pp. 475-483, 2017, DOI:10.1111/chd.12471

    Abstract Objective: To describe a group of children with co-incident pulmonary vein stenosis and SmithLemli-Opitz syndrome and to generate hypotheses as to the shared pathogenesis of these disorders.
    Design: Retrospective case series.
    Patients: Five subjects in a pulmonary vein stenosis cohort of 170 subjects were diagnosed with Smith-Lemli-Opitz syndrome soon after birth.
    Results: All five cases were diagnosed with Smith-Lemli-Opitz syndrome within 6 weeks of life, with no family history of either disorder. All cases had pathologically elevated 7-dehydrocholesterol levels and two of the five cases had previously reported pathogenic 7-dehydrocholesterol reductase mutations. Smith-Lemli-Opitz syndrome severity scores ranged from mild… More >

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