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Article

Encephalocraniocutaneous lipomatosis (ECCL): neuroradiological findings in three patients and a new association with fibrous dysplasia.

American journal of medical genetics. Part A - 1 Jul 2011

Delfino Luciana Nogueira, Fariello Giuseppe, Quattrocchi Carlo Cosimo, Aiello Costanza, Menchini Laura, Devito Rita, Zama Mario, Claps Dianella, Vigevano Federico, Longo Daniela

Abstract excerpt

Encephalocraniocutaneous lipomatosis (ECCL) is a rare neurocutaneous syndrome characterized by involvement of tissues of ectodermal and mesodermal origin such as skin, eye, adipose tissue, and brain. Since 1970, when Haberland and Perou had described the first patient, 54 cases of ECCL have been reported in literature. We report on three new boys with ECCL. In addition to their typical dermal, ocular and central...

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PMID: 21626669
DOI: 10.1002/ajmg.a.33954

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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