Encephalocraniocutaneous lipomatosis. Report of two cases and a review of the literature.
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.
Bamforth
J S
JS
Department of Medical Genetics, University of British Columbia, Grace Hospital, Vancouver, Canada.
Riccardi
V M
VM
Thisen
P
P
Chitayat
D
D
Friedman
J M
JM
Caruthers
J
J
Hall
J G
JG
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