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

<div>Ocular phenotype (case 1). Multiple lesions of congenital hypertrophy of the retinal pigment epithelium (CHRPE) shown inferiorly and pigmentation near the optic nerve in the right eye of a female with aphakia after surgical removal of congenital cataracts.</div>

Case Reports in Genetics

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Figure 1

Figure 1: Two Cases of Oculofaciocardiodental (OFCD) Syndrome due to X-Linked BCOR Mutations Presenting with Infantile Hemangiomas: Phenotypic Overlap with PHACE Syndrome 

Figure 1 | Two Cases of Oculofaciocardiodental (OFCD) Syndrome due to X-Linked BCOR Mutations Presenting with Infantile Hemangiomas: Phenotypic Overlap with PHACE Syndrome 