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. Author manuscript; available in PMC: 2016 Aug 23.
Published in final edited form as: Am J Med Genet A. 2011 Jun 10;155A(7):1597–1604. doi: 10.1002/ajmg.a.34040

FIG. 1.

FIG. 1

Clinical photographs. A: Patient at age 3 weeks. Note flexion of all four extremities, consistent with arthrogryposis. Relative macrocephaly, prominent forehead, and widely open metopic suture were noted. B: AP view of the face highlights the short nose and anteverted nares. C,D: The patient’s feet shows mild cutaneous 2–4 toe syndactyly and proximally placed great toes. E: Patient at age 8 months. Note rhizomesomelic shortening of the extremities. F: Profile at 8 months is significant for progressive relative macrocephaly with frontal bossing. Head circumference was at the 95th percentile for age, while length was 4.5 SD below the mean. Note again the short nose with anteverted nares.