The follow-up of 3 of 5 patients ended up with mortality (60%). vascular malformation osseous is intraosseous vascular malformation with aggressive biological behavior associated with ELMO-2 gene mutation.
Herein, we report loss-of-function mutations in ELMO2 (which translates extracellular signals into cellular movements) that are causative for autosomal-recessive intraosseous vascular malformation (VMOS) in five different families.