CASE REPORTS
JOURNAL ARTICLE
REVIEW
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Encephalocraniocutaneous lipomatosis: case report and review of the literature.

Cornea 2003 May
PURPOSE: Encephalocraniocutaneous lipomatosis is a congenital neurocutaneous syndrome characterized by lipomatous craniofacial hamartomas. The most common ocular manifestation is epibulbar choristoma, but many additional eye anomalies may be present.

METHODS: To our knowledge, this is the first reported case with bilateral aniridia. We report a case of a boy affected by this syndrome and review the literature.

CONCLUSION: Regarding this case, we suggest adding aniridia to the possible ocular anomalies in this syndrome.

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