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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 4.

Figure 4

a-e: 4a-c: Facial appearance of Patient 2 aged <2, 3 and 5 years demonstrating similar facial dysmorphism to Patient 1 with progeric appearance, grey sclerae, broad forehead, bilateral low-set ears, proptosis; 4d-e: Skull and right lower limb X-rays demonstrating thin skull vault, slender bones and osteopenia.