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Cerebro-oculo-facio-skeletal syndrome: further delineation
R Gershoni-Baruch1, R M Ludatscher, C Lichtig
1Department of Pediatrics, Rambam Medical Center, Haifa, Israel.
American Journal of Medical Genetics
|October 1, 1991
Abstract:
We report on a newborn infant with cerebro-oculo-facio-skeletal (COFS) syndrome. Congenital muscular dystrophy-like changes were present in this patient. It is debated whether the clinical spectrum of the COFS phenotype should be expanded to include congenital muscular dystrophy: