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Additionally, we reviewed (i) the brain imaging studies and clinical data of these new cases of ECCL and six other previously published ECCL patients, and (ii) the literature on 42 other patients who had undergone some form of neuroimaging, including three cases with probable or uncertain ECCL diagnoses. Thirty\u2010three of 52 patients showed intracranial lipomas, frequently of cerebello\u2010pontine location, and\/or spinal lipomatosis. The latter has been found in 12\/13 patients who had imaging studies of the spine. Other frequent findings included congenital anomalies of the meninges, in particular arachnoid cysts, and remarkably asymmetric anomalies caused by putative focal vascular defects, such as (partial) atrophy of one hemisphere or thin cerebral mantle, porencephalic cysts and calcifications. Vessel anomalies were found in nine patients. No correlation between the brain anomalies and the degree of retardation or epilepsy could be established. These data provide evidence that the brain anomalies in ECCL are not primary brain malformations but arise secondary to a mesenchymal defect affecting mostly neural crest derivatives. \u00a9 2007 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.32074","type":"journal-article","created":{"date-parts":[[2007,11,14]],"date-time":"2007-11-14T22:16:27Z","timestamp":1195078587000},"page":"2963-2972","source":"Crossref","is-referenced-by-count":58,"title":["Brain anomalies in encephalocraniocutaneous lipomatosis"],"prefix":"10.1002","volume":"143A","author":[{"given":"Ute","family":"Moog","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marilyn C.","family":"Jones","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David 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