PMC6190576_01
Clinical and radiological features.. Patient face (A) note high forehead, bilateral ptosis, upslanting palpebral fissures, telecanthus, broad nasal bridge, and long philtrum. Patient brain MRI at 6 years of age (midsagittal T1-weighted (B) and Axial T2-weighted (C) images) showing rudimentary corpus callosum (arrow) and paucity of white matter around posterior horns of lateral ventricles (arrowheads). Face of a patient with STAR syndrome is shown in order to demonstrate the striking resemblance (D) (reprinted by permission from Macmillan Publishers Ltd).
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F1
Physical examination at that time revealed facial dysmorphism which consisted of high forehead, mild bilateral ptosis, upslanting palpebral fissures, telecanthus, broad nasal bridge and long philtrum (figure 1A). MRI at 6 years of age disclosed a rudimentary corpus callosum and paucity of white matter with attendant lateral ventricular widening (Fig.1 B-C). MRI of the spine, performed because of the dysmorphism, disclosed dys-segmentation of C3-C4 and a rudimentary coccyx with adjacent dermal sinus.