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(a, b) Facial picture of the 8-year-old girl showing facial dimorphism: flat face, blepharophimosis, hypertelorism, broad nasal bridge, and high palate. (c, d) Hands photograph showing bones and joints defects: single transverse palmar crease and brachydactyly. (e) The 8p22.1 microduplication and its coordinates in our patient.
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Bones and joints defects were also evident: pectum excavatum, single transverse palmar crease, brachydactyly, flat foot, and stature below 25th percentile (Figure 1).
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