Cerebro‐oculo‐facio‐skeletal syndrome: Further delineation

1 October 1991

journal article
case report
Published by Wiley in American Journal of Medical Genetics

Vol. 41 (1) , 74-77
https://doi.org/10.1002/ajmg.1320410119

Abstract

We report on a newborn infant with cerebrooculo‐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:

Keywords

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