Journal article
Antenatal and postnatal findings in encephalocraniocutaneous lipomatosis
Abstract
Encephalocraniocutaneous lipomatosis (ECCL) is a congenital neurocutaneous syndrome that comprises unilateral porencephalic cysts with cortical atrophy; ipsilateral hamartomas of scalp, eyelid, and outer part of the eye; lipomas of the central nervous system (CNS); cranial asymmetry; and characteristic cutaneous lesions. We report on the antenatal and postnatal sonographic and radiologic, and on the postnatal pathologic findings of an infant …
Authors
Nowaczyk MJM; Mernagh JR; Bourgeois JM; Thompson PJ; Jurriaans E
Journal
American Journal of Medical Genetics, Vol. 91, No. 4, pp. 261–266
Publisher
Wiley
Publication Date
April 10, 2000
DOI
10.1002/(sici)1096-8628(20000410)91:4<261::aid-ajmg4>3.0.co;2-s
ISSN
0148-7299