作者: M. J. P. Maclaren , I. Kluijt , F. D. Koole
DOI: 10.1007/BF01203299
关键词:
摘要: Encephalocraniocutaneous lipomatosis (ECCL) is a sporadically occurring disorder that belongs to the group of neurocutaneous syndromes. Important characteristics case we present are: intracranial lipomas, skull hamartoma, bilateral lipodermoids and jaw tumors (ossifying fibromas compound odontomas). We propose four minimal criteria for diagnosis ECCL review ocular abnormalities reported date.