Mild Prominence of the Sylvian Fissure in a Bainbridge-Ropers Syndrome Patient with a Novel Frameshift Variant in ASXL3

Key Clinical MessageA 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.