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Facial view of the patient (a) at the age of 2.5 years, note coarse facial features with long eyelashes and broad nasal bridge; (b) at the age of 6.5 years, note progressively coarsened facial features; (c) at the age of 16 years. (d) brachydactyly, short F5; (e) X-ray of both hands showed hypoplastic distal phalanges.
