Fig. 1From: A novel PIK3R1 mutation of SHORT syndrome in a Chinese female with diffuse thyroid disease: a case report and review of literatureImage of the patient. a, b, c, d. Facial abnormalities included triangular face with a small chin, thin lip, downturned mouth, low-set posteriorly rotated ears, obvious beard and bushy eyebrows. e, f. Thicken and short second phalanx of little finger in the left hand. g. Overcrowded and irregular teeth, multiple dental cariesBack to article page