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. Author manuscript; available in PMC: 2018 May 22.
Published in final edited form as: Eur J Med Genet. 2017 Nov 23;61(3):152–156. doi: 10.1016/j.ejmg.2017.11.009

Fig. 1.

Fig. 1

Pictures of the patient at initial presentation i.e. 20 months of age, showing (a) facial dysmorphism, (b) low set and posteriorly rotated ears, retro-micrognathia, (c–d) transverse palmar crease and contractures of the interphalangeal joints.