EPHB4 and congenital myasthenic syndrome: There were two missense mutations, two frameshift mutations and one non-sense mutation in <i>EPHB4</i> mutation, and two non-sense mutations in <i>RASA1</i> mutation.<h4>Conclusions</h4>The clinical characteristics of CM-AVM include multifocal capillary malformations (CMs), telangiectasia, and arteriovenous malformation (AVM) or arteriovenous fistulas (AVF).