Fig. 2.

Case photographs and pedigrees. a Cutaneous AVM of the ear (left panel) and large birthmark covering the right face, ear, and scalp (left and right panels) of case 60. b Pedigree of family suspicious for HHT in which exome sequencing of the proband (case 1) showed a RASA1 frameshift. c Family pedigree of case 48 with a novel RASA1 splice site variant in which the affected infant was diagnosed prenatally with cerebral AVFs. d Fetal color Doppler ultrasound demonstrates a high-flow arteriovenous shunt in the posterior fossa (affected sibling of case 48). e MRI demonstrates a signal void (arrow) representing a high flow with arteriovenous shunting along the surface of the left cerebellar hemisphere (affected sibling of case 48). f Frontal early and latter images of the left vertebral artery shows the multiple AVFs in the posterior fossa draining to a markedly dilated tributary to the left transverse sinus (affected sibling of case 48). g The thigh of case 69 had innumerable, diffuse tiny telangiectases (arrows, left panel) with significant surrounding halos giving the skin a mottled effect (left panel). Pale pink capillary malformation (~1 cm) on the left arm of case 69 (right panel)