Fig. 1From: Distal Arthrogryposis type 5 in an Italian family due to an autosomal dominant gain-of-function mutation of the PIEZO2 genea Patient’s front view. High forehead, low anterior hairline, deep-set eyes, wide and depressed nasal bridge, bulbous nose, anteverted nares, long and thick philtrum, increased nasogenian folds and half-opened mouth with “whistling” appearance. b. Lateral view. Right posteriorly rotated ear with thick helix, and microretrognathiaBack to article page