title: Encephalocraniocutaneous lipomatosis. Report of two cases and a review of the literature.
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.
authors.affiliation: Department of Medical Genetics, University of British Columbia, Grace Hospital, Vancouver, Canada.
authors.forename: J S
authors.initials: JS
authors.lastname: Bamforth
authors.forename: V M
authors.initials: VM
authors.lastname: Riccardi
authors.forename: P
authors.initials: P
authors.lastname: Thisen
authors.forename: D
authors.initials: D
authors.lastname: Chitayat
authors.forename: J M
authors.initials: JM
authors.lastname: Friedman
authors.forename: J
authors.initials: J
authors.lastname: Caruthers
authors.forename: J G
authors.initials: JG
authors.lastname: Hall
mesh_terms: D000293:Adolescent; D001932:Brain Neoplasms / Q000000981:diagnostic imaging / Q000473:pathology* / Q000503:physiopathology; D002675:Child, Preschool; D005260:Female; D006222:Hamartoma / Q000000981:diagnostic imaging / Q000473:pathology* / Q000503:physiopathology; D006801:Humans; D008068:Lipomatosis / Q000000981:diagnostic imaging / Q000473:pathology* / Q000503:physiopathology; D011859:Radiography; D012878:Skin Neoplasms / Q000000981:diagnostic imaging / Q000473:pathology* / Q000503:physiopathology