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Figure 1

From: Identification of de novo EP300 and PLAU variants in a patient with Rubinstein–Taybi syndrome-related arterial vasculopathy and skeletal anomaly

Figure 1

Facial and dental characteristics of the patient. The face was long and narrow and showed signs of third nerve palsy, grimacing smile, pinched and hump nose, maxillary retrognathia compared to the mandible, and skeletal Class III malocclusion without microencephaly (A,B). Dental examination revealed V-shaped and high arched palate, crowding of the teeth, anterior open bite, many dental caries, teeth fractures and ectopic eruptions, and narrow maxillary width compared to the mandible (C–E).

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