Cerebro-oculo-facio-skeletal syndrome: further delineation.
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:
Gershoni-Baruch
R
R
Department of Pediatrics, Rambam Medical Center, Haifa, Israel.
Ludatscher
R M
RM
Lichtig
C
C
Sujov
P
P
Machoul
I
I
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