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Ophthalmologic abnormalities in encephalocraniocutaneous lipomatosis
M J MacLaren1, I Kluijt, F D Koole
1Department of Ophthalmology, Academic Hospital of the Free University, Amsterdam, The Netherlands.
Documenta Ophthalmologica. Advances in Ophthalmology
|January 1, 1995
Abstract:
Encephalocraniocutaneous lipomatosis (ECCL) is a sporadically occurring disorder that belongs to the group of neurocutaneous syndromes. Important characteristics of the case we present are: intracranial lipomas, a skull hamartoma, bilateral lipodermoids and jaw tumors (ossifying fibromas and compound odontomas). We propose four minimal criteria for the diagnosis of ECCL and review the ocular abnormalities reported to date.