SMAD4 and hereditary hemorrhagic telangiectasia: Hereditary hemorrhagic telangiectasia (HHT) is usually associated with mutations in endoglin (ENG), activin receptor-like kinase 1 (ACVRL1), mothers against decapentaplegic homolog 4 (SMAD4), etc. Only 1 case reported that BMPR2 gene analysis is indicated in patients affected with both HHT and HPAH.[5] Here we report an 11-year-old boy diagnosed with HPAH and suspected HHT, which may be associated with a novel nonsense mutation of BMPR2.