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Diagnostic approach

The morphologic lens provides a systematic approach to psychiatric presentations in which developmental craniofacial features are identified. Searching the differential associated with widely spaced eyes and bulbous nose leads toward the diagnosis revealed further below, with the accompanying hypocalcemia providing an additional supporting clue.

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Widely spaced eyes (hypertelorism)

Bulbous nose

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Today's answer

22q11.2 microdeletion syndrome (velocardiofacial syndrome)

The combination of psychosis, widely spaced eyes, a bulbous nose, and hypocalcemia should raise suspicion for 22q11.2 microdeletion syndrome, even in the absence of a known family history or other obvious multisystem involvement.

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22q11.2 microdeletion syndrome / velocardiofacial syndrome

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