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  • Title: Prenatal diagnosis of pulmonary arteriovenous malformations with a postnatal diagnosis of Osler-Weber-Rendu syndrome.
    Author: Daglar HK, Kaymak D, Ceylaner S, Uysal NŞ, Sanhal CY.
    Journal: J Clin Ultrasound; 2024 Jun; 52(5):658-663. PubMed ID: 38563516.
    Abstract:
    Hereditary Hemorrhagic Telangiectasia (HHT), commonly known as Osler-Weber-Rendu disease, is an autosomal dominant multisystemic vascular disease associated with approximately 70% of cases of pulmonary arteriovenous malformations (PAVMs). Prenatal cases of PAVMs typically present with pulmonary vein dilatation on ultrasonography. This study presents a prenatal diagnosis of PAVMs with enlarged right pulmonary vein, cardiomegaly, cystic-appearing areas in the right lung and subsequent confirmation of Osler-Weber-Rendu syndrome using autopsy and whole exom sequencing.
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