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Clin Dysmorphol. 2007 Jan;16(1):35-8.

Oculo-ectodermal syndrome: is arachnoid cyst a common finding?

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  • 1Division of Genetics, Department of Pediatrics, University of California, San Francisco, CA 94143-0748, USA.


Oculo-ectodermal syndrome is a rare condition characterized by aplasia cutis and epibulbar dermoids. We present the case of a 6-year-old girl with oculo-ectodermal syndrome, who was found to have an arachnoid cyst by head computed tomography. This is the third case of oculo-ectodermal syndrome with arachnoid cyst reported in the literature, and suggests that arachnoid cyst may be a phenotypic feature of oculo-ectodermal syndrome.

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