J S Bamforth, V M Riccardi, P Thisen, D Chitayat, J M Friedman, J Caruthers, J G Hall
{"title":"Encephalocraniocutaneous lipomatosis. Report of two cases and a review of the literature.","authors":"J S Bamforth, V M Riccardi, P Thisen, D Chitayat, J M Friedman, J Caruthers, J G Hall","doi":"","DOIUrl":null,"url":null,"abstract":"<p><p>We describe 2 patients with unilateral facial and cerebral malformations consistent with encephalocraniocutaneous lipomatosis. The characteristic facial appearance seems to develop with age, possibly as a consequence of increased intracranial pressure. However, the clinical data suggest that this condition arises as a result of a disruption of cephalic neural crest and anterior neural tube.</p>","PeriodicalId":77754,"journal":{"name":"Neurofibromatosis","volume":"2 3","pages":"166-73"},"PeriodicalIF":0.0000,"publicationDate":"1989-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Neurofibromatosis","FirstCategoryId":"1085","ListUrlMain":"","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 0
Abstract
We describe 2 patients with unilateral facial and cerebral malformations consistent with encephalocraniocutaneous lipomatosis. The characteristic facial appearance seems to develop with age, possibly as a consequence of increased intracranial pressure. However, the clinical data suggest that this condition arises as a result of a disruption of cephalic neural crest and anterior neural tube.