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. 2016 Jul 2;11:89. doi: 10.1186/s13023-016-0465-4

Fig. 1.

Fig. 1

Clinical features of the proband at 2 years of age. a Note the prominent forehead, triangular face, downward-slanting mouth and micrognathia. The proband also presented with very short limbs and body asymmetry, b a low nasal bridge, and c trident hands and fifth finger clinodactyly, d scoliosis