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Sturge-Weber syndrome

Monday 23 June 2003

MIM.185300

Synopsis

- sporadic (isolated cases)
- macrocephaly
- facial hemangioma
- choroidal hemangioma
- glaucoma
- buphthalmos
- hemangioma in at least first branch (ophthalmic) of trigeminal nerve (unilateral or occasionally bilateral)
- arachnoid hemangioma
- cerebral cortical atrophy

Etiology:

- somatic mosaicism (12221183)


- MIM.185300