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(a) Brain MRI of patient 13 with a 1.16 Mb microdeletion encompassing ANKRD11, showing macrodontia of the permanent dentition and lack of space between the teeth as a result of the macrodontia. (b) On clinical examination, the patient has facial features of KBG syndrome, including a short nose with a bulbous nasal tip, a round face, bushy eyebrows, prominent eyelashes, hypertelorism and an exagerrated cupid's bow-shaped mouth (c) with large deciduous upper central incisors.
