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Encephalocraniocutaneous Lipomatosis Without Ocular Malformations.

Pediatric neurology - 1 Jul 2016

Radić Nišević Jelena, Prpić Igor, Antulov Ronald, Sasso Antun, Holjar Erlić Izidora

Abstract excerpt

BACKGROUND: Encephalocraniocutaneous lipomatosis is a rare congenital neurocutaneous syndrome resulting from ectomesodermal dysgenesis and characterized by unique hairless scalp lesions in the form of nevus psiloliparus, ipsilateral ocular malformations, and central nervous system anomalies. According to the 2009 diagnostic criteria proposed by Moog et al., ocular abnormalities are supposed to be the most...

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PMID: 27131628
DOI: 10.1016/j.pediatrneurol.2016.03.005

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