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. Author manuscript; available in PMC: 2018 Jul 31.
Published in final edited form as: Bone. 2016 Oct 24;94:65–74. doi: 10.1016/j.bone.2016.10.023

Figure 1.

Figure 1

a-e: 1a-c: Facial features as an infant and aged >1, 2 and 9 years showing grey sclerae, broad forehead, bilateral low-set ears, proptosis and progeric appearance; 1d-e: Hands and feet at 2-years of age.