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. Author manuscript; available in PMC: 2019 Jan 1.
Published in final edited form as: Am J Med Genet A. 2017 Nov 17;176(1):56–67. doi: 10.1002/ajmg.a.38521

Figure 2.

Figure 2

Representative facial photographs of individuals with PURA syndrome. Facial photographs of subjects with PURA syndrome. (A) DB13-043; (B) DB15-021; (C) DB15-023; (D) DB15-027; (E) DB15-030; (F) DB15-033; (G) DB15-035; (H) DB15-037; (I) DB16-002; (J) DB16-009; (K) DB16-043. Facial images of subject DB16-016 across her lifespan at age 4 months (L), 4.5 years (M), 18 years (N), and 27 years (O) demonstrate early facial hypotonia in infancy that resolved with maturity. Other individuals (A,C,G) had similar hypotonic facies. Some had downslanting palpebral fissures (A,B) but overall there were no consistent dysmorphic facial features across this cohort of individuals with PURA syndrome.