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. 2016 Jan 5;53(4):264–269. doi: 10.1136/jmedgenet-2015-103620

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Affected infant III:2 showing (A) facial dysmorphism including a tall forehead with bitemporal narrowing, a long philtrum and a small chin; (B) the right hand showing long tapered fingers with contractures and (C) the left foot with overlapping toes. Affected infant III:4 showing (D) facial dysmorphism including a square forehead and small chin; apparent deficiency of pectoralis and proximal limb musculature (E and F) contractures of the proximal interphalangeal joints in the right and left hand, respectively.