Fig. 3
From: Somatic mutation spectrum of a Chinese cohort of pediatrics with vascular malformations
Clinical features of patients with PWS and SWS. a Patient P44, a 3-month-old girl with PWS and GNAQ c.548G > A;p.R183Q mutation. She had capillary malformations on the righ face and neck. She had normal intraocular pressure and no abnormalities in cerebral MRI. b Patient P41, a 3-month-old girl with PWS and GNAQ c.548G > A;p.R183Q mutation. She showed capillary malformation on the left lower limb and had symmetric low limbs. c Patient P36, a 2-month-old boy with SWS and GNAQ c.548G > A;p.R183Q. He had capillary malformation on bilateral lateral parts, right auricle and scalp with clear border, as well as pressure of fading and right eyeball protrusion. d MRI showed that outside the brain interval of bilateral temporal lobe were widened significantly with increased vascular shadows, and that some of them were circuity and dilated