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 2). Multiple lesions of congenital hypertrophy of the retinal pigment epithelium (CHRPE) present bilaterally ((a) right eye; (b) left eye) in a female with aphakia after surgical removal of congenital cataracts. Asymmetric increased cup to disc ratio was present in the left eye.</div>

Case Reports in Genetics

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Figure 4: Two Cases of Oculofaciocardiodental (OFCD) Syndrome due to X-Linked BCOR Mutations Presenting with Infantile Hemangiomas: Phenotypic Overlap with PHACE Syndrome 

Figure 4 | Two Cases of Oculofaciocardiodental (OFCD) Syndrome due to X-Linked BCOR Mutations Presenting with Infantile Hemangiomas: Phenotypic Overlap with PHACE Syndrome 