Anophthalmia and Dysmorphic Syndrome

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Note what signs you see.

I (W. Wertelecki, M.D.) see a relatively large head and no evidence of ocular globes.

PERSPECTIVE: Clinically (without an autopsy) it is not possible to distinguish agenesis from aplasia of ocular globes (lack of genes or lack of expression). In any case, it is fundamental to remember that the eyes derive from the cerebral frontal lobes. Another perspective is whether there are extra-cephalic concurrent malformations (as in this case).

Please, see four additional images of this patient.


Tags: pt13q-, sxAnoph