Case Report: Pregnancy and Birth in a Mild Phenotype of Alström Syndrome

    October 2022 in “ Frontiers in Genetics
    Luca Marozio, Francesca Dassie, Gianluca Bertschy, Emilie Marion Canuto, Gabriella Milan, Stefano Cosma, Pietro Maffei, Chiara Benedetto
    This case report described the first documented instance of a 27-year-old woman with Alström syndrome (AS) successfully conceiving, experiencing pregnancy, and giving birth. Despite AS being a rare multisystemic disease with potential fertility issues, the woman, who had a mild phenotype of AS, managed to conceive spontaneously. Her pregnancy was largely uneventful until 34 weeks when she developed preeclampsia, leading to an urgent cesarean section at 35 weeks + 3 days, resulting in the birth of a healthy male infant. The case highlighted the importance of managing AS-related comorbidities during pregnancy.
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