Bainbridge-ropers syndrome caused by loss-of-function variants in ASXL3: Clinical abnormalities medical imaging features and gene variation in infancy of case report

摘要

Prominent forehead, protruding superior orbital crest, strabismus, nose unprecedentedly tilted, middle flat, lower lip eversion, and small jaw . Both hands were clawed, no clenched fists, wrists sagged, and both wrists slightly ulnar when laid flat