Two Cases of Oculofaciocardiodental (OFCD) Syndrome due to X-Linked BCOR Mutations Presenting with Infantile Hemangiomas: Phenotypic Overlap with PHACE Syndrome

Figure 5

MRI/MRA images (case 2). (a) Sagittal MRI (T1) image of the brain showing a 1.2 cm diameter extracranial hemangioma on the right frontal scalp (red arrow). (b) Coronal MRI (postcontrast T1W) image showing the larger hemangioma on the right parietal scalp. (c) Axial MRI image (postcontrast T1W) showing both the smaller hemangioma on the right frontal scalp and the larger hemangioma on the right parietal scalp measured 2.9 × 2.3 cm axially. (d) Axial MRI image (SWI) showing both the smaller hemangioma on the right frontal scalp and the larger hemangioma on the right parietal scalp. (e) Head and neck MRA showing intracranial circulation and the large right parietal scalp hemangioma (red arrow). (f) Head MRA showing intracranial circulation and direct circulation (red arrow) to the right parietal scalp hemangioma. (g) Upper body MRA showing branching of upper body large arteries. (h) Zoomed in and angled upper body MRA showing the aberrant right subclavian artery (red arrow) coming directly off the aortic arch and not from the brachiocephalic artery (as it normally should). There is no observed right brachiocephalic artery.

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