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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