title: Cerebro-oculo-facio-skeletal syndrome: further delineation.
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:
authors.affiliation: Department of Pediatrics, Rambam Medical Center, Haifa, Israel.
authors.forename: R
authors.initials: R
authors.lastname: Gershoni-Baruch
authors.forename: R M
authors.initials: RM
authors.lastname: Ludatscher
authors.forename: C
authors.initials: C
authors.lastname: Lichtig
authors.forename: P
authors.initials: P
authors.lastname: Sujov
authors.forename: I
authors.initials: I
authors.lastname: Machoul
mesh_terms: D000015:Abnormalities, Multiple / Q000473:pathology*; D001176:Arthrogryposis / Q000473:pathology; D005124:Eye Abnormalities / Q000473:pathology; D005183:Failure to Thrive; D005808:Genes, Recessive / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008831:Microcephaly / Q000473:pathology; D008854:Microscopy, Electron; D009132:Muscles / Q000648:ultrastructure; D009136:Muscular Dystrophies / Q000151:congenital*; D013577:Syndrome