Mild prominence of the Sylvian fissure in a Bainbridge-Ropers syndrome patient with a novel frameshift variant in ASXL3.
Yasutsugu ChinenSadao NakamuraAkira GanahaShin HayashiJohji InazawaKumiko YanagiKoichi NakanishiTadashi KanameKenji NaritomiPublished in: Clinical case reports (2017)
A Japanese boy aged 7 years with Bainbridge-Ropers syndrome (BRPS) had a prominent domed forehead without metric ridge, mild prominence of the Sylvian fissure with bitemporal hollowing, and a heterozygous de novo novel variant "p.P1010Lfs*14" in ASXL3 gene in addition to typical findings of BRPS.